{"Name":"Glucocorticoid deficiency with achalasia","DiseaseID__c":"GARD:0000457","id":457,"encodedName":"glucocorticoid-deficiency-with-achalasia","IsDeleted":false,"Disease_Name_Full__c":"Glucocorticoid deficiency with achalasia","Xref_IDs__c":"45414006; C0271742; C35710; C536008; DOID:0050602; MEDGEN:82889; MONDO:0009279; OMIM:231550; ORPHA:869","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009279","Disease_Description__c":"Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.","GARD_Name__c":"Glucocorticoid deficiency with achalasia","GARD_Synonym__c":"2a syndrome; 3a syndrome; 4a syndrome; aaa syndrome; aaas; achalasia-addisonian syndrome; achalasia-addisonianism-alacrima (triple-a) syndrome; achalasia-addisonianism-alacrima syndrome; achalasia-addisonianism-alacrimia syndrome; acth-resistant adrenal insufficiency, achalasia and alacrima; addisonian achalasia syndrome; adrenal insufficiency-achalasia-alacrima syndrome; alacrima-achalasia-addisonianism; alacrima-achalasia-adrenal insufficiency neurologic disorder; alacrimia-achalasia-addisonianism; allgrove syndrome; double a syndrome; glucocorticoid deficiency and achalasia; hypoadrenalism with achalasia; quaternary a syndrome; triple a syndrome; triple-a syndrome","Curated_Disease_Description_Source__c":"GARD:0000457","Curated_Disease_Description__c":"Triple A syndrome, also called Allgrove syndrome, is an inherited condition that gets its name from three specific features: achalasia, adrenal insufficiency, and alacrima. Most people with triple A syndrome have all three of these features, although some have only two.  Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that connects the throat to the stomach. Achalasia can lead to severe feeding difficulties, vomiting, and weight loss. Signs and symptoms of achalasia can appear at any time between the ages of 6 months and late adolescence. Adrenal insufficiency occurs when the small hormone-producing glands on top of each kidney (adrenal glands) do not produce enough hormones. Features of adrenal insufficiency can include fatigue, loss of appetite, weight loss, low blood pressure, low blood glucose (hypoglycemia), and seizures. The third major feature of triple A syndrome is alacrima. Tear secretion is reduced or completely absent in people with alacrima. This feature is often the first noticeable sign of triple A syndrome in affected infants. Approximately one-third of all people with triple A syndrome also have dysfunction of the autonomic nervous system (dysautonomia). The autonomic nervous system regulates involuntary bodily processes, including digestion, blood pressure, and body temperature. People with triple A syndrome may experience abnormal sweating, changes in the production of saliva, difficulty regulating blood pressure and heart rate, unequal pupil size (anisocoria), and other problems. Additional features of triple A syndrome can include cognitive abilities that decline over time. Affected individuals may also have muscle weakness, difficulty coordinating movements (ataxia), speech problems (dysarthria), short stature, and a small head size (microcephaly). Adults with triple A syndrome often have brittle bones that are prone to fracture (osteoporosis). Optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain, has also been found in affected individuals. People with triple A syndrome may develop skin abnormalities, such as darkening of the skin and thickening of the outer layer of the skin (hyperkeratosis) on the palms of the hands and the soles of the feet.  The symptoms of triple A syndrome typically develop gradually over a period of several years and can vary widely, even among members of the same family.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:869","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009279","ORPHANET_ID__c":"ORPHA:869","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome triple a","Spanish_Description_Source__c":"ORPHA:869","Spanish_Description__c":"El síndrome triple A es una enfermedad multisistémica muy poco frecuente, que se caracteriza por insuficiencia suprarrenal con déficit aislado de glucocorticoides, acalasia, alacrimia (ausencia congénita de secreción lagrimal) disfunción autonómica y neurodegeneración.","Spanish_Disease_Name__c":"síndrome triple a","Spanish_GARD_Synonym__c":"síndrome 2a; síndrome 3a; síndrome 4a; síndrome a cuaternario; síndrome aaa; síndrome de acalasia-addisonismo-alacrimia; síndrome de allgrove; síndrome de insuficiencia suprarrenal-acalasia-alacrimia; síndrome doble a","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Triple A syndrome, also called Allgrove syndrome, is an inherited condition that gets its name from three specific features: achalasia, adrenal insufficiency, and alacrima. Most people with triple A syndrome have all three of these features, although some have only two.  Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that connects the throat to the stomach. Achalasia can lead to severe feeding difficulties, vomiting, and weight loss. Signs and symptoms of achalasia can appear at any time between the ages of 6 months and late adolescence. Adrenal insufficiency occurs when the small hormone-producing glands on top of each kidney (adrenal glands) do not produce enough hormones. Features of adrenal insufficiency can include fatigue, loss of appetite, weight loss, low blood pressure, low blood glucose (hypoglycemia), and seizures. The third major feature of triple A syndrome is alacrima. Tear secretion is reduced or completely absent in people with alacrima. This feature is often the first noticeable sign of triple A syndrome in affected infants. Approximately one-third of all people with triple A syndrome also have dysfunction of the autonomic nervous system (dysautonomia). The autonomic nervous system regulates involuntary bodily processes, including digestion, blood pressure, and body temperature. People with triple A syndrome may experience abnormal sweating, changes in the production of saliva, difficulty regulating blood pressure and heart rate, unequal pupil size (anisocoria), and other problems. Additional features of triple A syndrome can include cognitive abilities that decline over time. Affected individuals may also have muscle weakness, difficulty coordinating movements (ataxia), speech problems (dysarthria), short stature, and a small head size (microcephaly). Adults with triple A syndrome often have brittle bones that are prone to fracture (osteoporosis). Optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain, has also been found in affected individuals. People with triple A syndrome may develop skin abnormalities, such as darkening of the skin and thickening of the outer layer of the skin (hyperkeratosis) on the palms of the hands and the soles of the feet.  The symptoms of triple A syndrome typically develop gradually over a period of several years and can vary widely, even among members of the same family.","Curated_Disease_Description_Source__c":"GARD:0000457","GARD_Synonym__c":"2a syndrome; 3a syndrome; 4a syndrome; aaa syndrome; aaas; achalasia-addisonian syndrome; achalasia-addisonianism-alacrima (triple-a) syndrome; achalasia-addisonianism-alacrima syndrome; achalasia-addisonianism-alacrimia syndrome; acth-resistant adrenal insufficiency, achalasia and alacrima; addisonian achalasia syndrome; adrenal insufficiency-achalasia-alacrima syndrome; alacrima-achalasia-addisonianism; alacrima-achalasia-adrenal insufficiency neurologic disorder; alacrimia-achalasia-addisonianism; allgrove syndrome; double a syndrome; glucocorticoid deficiency and achalasia; hypoadrenalism with achalasia; quaternary a syndrome; triple a syndrome; triple-a syndrome","Name":"Glucocorticoid deficiency with achalasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"International Foundation for Functional Gastrointestinal Disorders","Website__c":"https://iffgd.org/"},{"Account_Name__c":"National Dysautonomia Research Foundation","Website__c":"http://www.ndrf.org"},{"Account_Name__c":"Addison's Disease Self Help Group","Website__c":"https://www.addisonsdisease.org.uk"},{"Account_Name__c":"Martin Mueller IV Achalasia Awareness Foundation, Inc","Website__c":"https://www.achalasiainfo.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:869"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0271742"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000457","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/231550","Source__c":"C0271742; MONDO:0009279; ORPHA:869","Xref__c":"OMIM:231550"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=45414006","Source__c":"C0271742; MONDO:0009279","Xref__c":"45414006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050602","Source__c":"MONDO:0009279","Xref__c":"DOID:0050602"},{"URL__c":"https://www.orpha.net/en/disease/detail/869","Source__c":"C0271742; MONDO:0009279; ORPHA:869","Xref__c":"ORPHA:869"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82889","Source__c":"C0271742","Xref__c":"MEDGEN:82889"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271742","Source__c":"C0271742","Xref__c":"C0271742"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536008","Source__c":"MONDO:0009279","Xref__c":"C536008"},{"URL__c":"https://medlineplus.gov/genetics/condition/triple-a-syndrome","Source__c":"GARD:0000457","Xref__c":"https://medlineplus.gov/genetics/condition/triple-a-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009279","Source__c":"GARD:0000457","Xref__c":"MONDO:0009279"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35710","Source__c":"C0271742","Xref__c":"C35710"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AAAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aaas","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007440","HPO_Name__c":"Generalized hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007002","HPO_Name__c":"Motor axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally reduced concentration of cortisol in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008163","HPO_Synonym__c":"Decreased cortisol production; Glucocorticoid insufficiency; Hypocortisolemia; Low blood cortisol level; Low to undetectable plasma cortisol; Plasma cortisol low","HPO_Name__c":"Decreased circulating cortisol level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001611","HPO_Synonym__c":"Hypernasal voice; Nasal speech; Nasal voice","HPO_Name__c":"Hypernasal speech","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010486","HPO_Name__c":"Abnormality of the hypothenar eminence","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000846","HPO_Synonym__c":"Hypoadrenalism","HPO_Name__c":"Adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperkeratosis affecting the sole of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007556","HPO_Synonym__c":"Plantar hyperkeratoses","HPO_Name__c":"Plantar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003154","HPO_Synonym__c":"High blood corticotropin levels; Increased circulating ACTH level; Increased plasma ACTH","HPO_Name__c":"Increased circulating ACTH level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012804","HPO_Synonym__c":"Corneal ulcer; Corneal ulcerations","HPO_Name__c":"Corneal ulceration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002571","HPO_Synonym__c":"Achalasia of the esophagus","HPO_Name__c":"Achalasia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of tear secretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000522","HPO_Synonym__c":"Absence of tears in the eyes; Absent lacrimal fluids; Absent tear secretion","HPO_Name__c":"Alacrima","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormally reduced levels of aldosterone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004319","HPO_Synonym__c":"Decreased aldosterone; Decreased aldosterone production; Decreased serum aldosterone; Hypoaldosteronism; Low blood aldosterone level; Mineralocorticoid insufficiency","HPO_Name__c":"Decreased circulating aldosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002173","HPO_Name__c":"Hypoglycemic seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031078","HPO_Name__c":"Impaired cortisol response to corticotropin releasing hormone stimulation test","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001097","HPO_Synonym__c":"Dry eyes; Keratitis sicca; Xerophthalmia","HPO_Name__c":"Keratoconjunctivitis sicca","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Endocrine","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Endocrine","Gastroenterology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["2a syndrome"," 3a syndrome"," 4a syndrome"," aaa syndrome"," aaas"," achalasia-addisonian syndrome"," achalasia-addisonianism-alacrima (triple-a) syndrome"," achalasia-addisonianism-alacrima syndrome"," achalasia-addisonianism-alacrimia syndrome"," acth-resistant adrenal insufficiency, achalasia and alacrima"," addisonian achalasia syndrome"," adrenal insufficiency-achalasia-alacrima syndrome"," alacrima-achalasia-addisonianism"," alacrima-achalasia-adrenal insufficiency neurologic disorder"," alacrimia-achalasia-addisonianism"," allgrove syndrome"," double a syndrome"," glucocorticoid deficiency and achalasia"," hypoadrenalism with achalasia"," quaternary a syndrome"," triple a syndrome"," triple-a syndrome"],"spanishId":12789,"spanishName":"sindrome-de-triple-a"}