{"Name":"X-linked acrogigantism due to Xq26 microduplication","DiseaseID__c":"GARD:0018433","id":18433,"encodedName":"x-linked-acrogigantism-due-to-xq26-microduplication","IsDeleted":false,"Disease_Name_Full__c":"X-linked acrogigantism due to Xq26 microduplication","Xref_IDs__c":"768472004; 789187001; C3891556; MEDGEN:856021; MONDO:0010491; OMIM:300942; ORPHA:300373","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"OMIM:300942","Disease_Description__c":"X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1; {139250}) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds ({1:Beckers et al., 2015}).","GARD_Name__c":"X-linked acrogigantism due to Xq26 microduplication","GARD_Synonym__c":"chromosome xq26 microduplication syndrome; chromosome xq26.3 duplication syndrome; chromosome xq26.3 duplication syndrome, x-linked dominant; familial infantile gigantism due to dup(x)q(26); familial infantile gigantism due to xq26 microduplication; x-lag (x-linked acrogigantism) due to dup(x)q(26); x-lag (x-linked acrogigantism) due to xq26 microduplication; x-linked acrogigantism","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Chromosome Xq26.3 duplication syndrome is a type of X-linked acrogigantism (XLAG). It is caused by extra genetic material on the X chromosome. This condition is characterized by excessive growth. Overgrowth usually begins during the first year of life in previously normal infants. This overgrowth is caused by the overproduction of growth hormone (GH1). The overproduction is due to pituitary hyperplasia. Pituitary hyperplasia is underdevelopment of the pituitary, and/or a pituitary macroadenoma. Pituitary macroadenoma is is a type of usually benign tumor. Chromosome Xq26.3 duplication syndrome is inherited in an X-linked manner. Most cases represent a single occurrence in a family.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"OMIM:300942","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010491","ORPHANET_ID__c":"ORPHA:300373","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acrogigantismo ligado al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"acrogigantismo ligado al cromosoma x","Spanish_GARD_Synonym__c":"gigantismo infantil familiar; gigantismo infantil hereditario; gigantismo infantil por hiperplasia hipofisaria; hiperplasia hipofisaria hereditaria; x-lag","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":"Chromosome Xq26.3 duplication syndrome is a type of X-linked acrogigantism (XLAG). It is caused by extra genetic material on the X chromosome. This condition is characterized by excessive growth. Overgrowth usually begins during the first year of life in previously normal infants. This overgrowth is caused by the overproduction of growth hormone (GH1). The overproduction is due to pituitary hyperplasia. Pituitary hyperplasia is underdevelopment of the pituitary, and/or a pituitary macroadenoma. Pituitary macroadenoma is is a type of usually benign tumor. Chromosome Xq26.3 duplication syndrome is inherited in an X-linked manner. Most cases represent a single occurrence in a family.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"chromosome xq26 microduplication syndrome; chromosome xq26.3 duplication syndrome; chromosome xq26.3 duplication syndrome, x-linked dominant; familial infantile gigantism due to dup(x)q(26); familial infantile gigantism due to xq26 microduplication; x-lag (x-linked acrogigantism) due to dup(x)q(26); x-lag (x-linked acrogigantism) due to xq26 microduplication; x-linked acrogigantism","Name":"X-linked acrogigantism due to Xq26 microduplication","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association for Multiple Endocrine Neoplasia Disorders UK","Website__c":"https://www.amend.org.uk/"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:300373"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:300373"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:300373"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK476671","Source__c":"Gene Review","Xref__c":"NBK476671"},{"URL__c":"https://www.omim.org/entry/300942","Source__c":"C3891556; MONDO:0010491","Xref__c":"OMIM:300942"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3891556","Source__c":"C3891556","Xref__c":"C3891556"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=856021","Source__c":"C3891556","Xref__c":"MEDGEN:856021"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=768472004","Source__c":"MONDO:0010491","Xref__c":"768472004"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=789187001","Source__c":"C3891556","Xref__c":"789187001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010491","Source__c":"GARD:0018433","Xref__c":"MONDO:0010491"},{"URL__c":"https://www.orpha.net/en/disease/detail/300373","Source__c":"MONDO:0010491","Xref__c":"ORPHA:300373"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GPR101","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gpr101","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002893","HPO_Synonym__c":"Noncancerous tumor in pituitary gland; Pituitary gland adenoma","HPO_Name__c":"Pituitary adenoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000845","HPO_Synonym__c":"Elevated circulating somatotropin concentration; Growth hormone excess; Somatotropin excess","HPO_Name__c":"Elevated circulating growth hormone concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010535","HPO_Synonym__c":"Pauses in breathing while sleeping; Sleep apnea; Sleep apnoea","HPO_Name__c":"Sleep apnea","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000870","HPO_Synonym__c":"Hyperprolactinaemia; Hyperprolactinemia; Prolactin excess","HPO_Name__c":"Increased circulating prolactin concentration","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040075","HPO_Name__c":"Hypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000956","HPO_Synonym__c":"Darkened and thickened skin; Keratosis nigricans","HPO_Name__c":"Acanthosis nigricans","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025267","HPO_Synonym__c":"Snore; Snores; Snoring symptoms","HPO_Name__c":"Snoring","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030269","HPO_Synonym__c":"Elevated serum IGF1; Increased serum IGF1; Increased serum insulin-like growth factor 1","HPO_Name__c":"Increased circulating insulin-like growth factor 1 concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002591","HPO_Synonym__c":"Hyperphagia; Voracious appetite","HPO_Name__c":"Polyphagia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031098","HPO_Synonym__c":"Decreased plasma TSH; Decreased thyrotropin level","HPO_Name__c":"Decreased thyroid-stimulating hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001123","HPO_Synonym__c":"Partial loss of field of vision; Visual field defects","HPO_Name__c":"Visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Uncommon (<1-4%)","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:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased back to front length of the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001833","HPO_Synonym__c":"Disproportionately large feet; large feet; long feet; Long foot","HPO_Name__c":"Long foot","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001176","HPO_Synonym__c":"Disproportionately large hands; large hand; Large hands","HPO_Name__c":"Large hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","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:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased functionality of the gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000135","HPO_Synonym__c":"Decreased activity of gonads","HPO_Name__c":"Hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012503","HPO_Synonym__c":"Abnormality of the pituitary gland; disorder of pituitary gland","HPO_Name__c":"Abnormal pituitary gland morphology","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011748","HPO_Synonym__c":"ACTH deficiency; Corticotropin deficiency","HPO_Name__c":"Adrenocorticotropic hormone deficiency","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000873","HPO_Name__c":"Diabetes insipidus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025163","HPO_Synonym__c":"Abnormality of optic chiasm morphology","HPO_Name__c":"Abnormal optic chiasm morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008283","HPO_Synonym__c":"High blood insulin levels while fasting","HPO_Name__c":"Fasting hyperinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased space between two adjacent teeth in the same dental arch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000699","HPO_Synonym__c":"Dental diastasis; Dental diastema; Diastasis of the teeth; Diastema of the teeth; Gap between teeth","HPO_Name__c":"Diastema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased size of the pituitary gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012505","HPO_Name__c":"Enlarged pituitary gland","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031418","HPO_Synonym__c":"Increased BMI","HPO_Name__c":"Increased body mass index","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004924","HPO_Synonym__c":"Abnormal glucose oral tolerance test","HPO_Name__c":"Abnormal oral glucose tolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300373","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["chromosome xq26 microduplication syndrome"," chromosome xq26.3 duplication syndrome"," chromosome xq26.3 duplication syndrome, x-linked dominant"," familial infantile gigantism due to dup(x)q(26)"," familial infantile gigantism due to xq26 microduplication"," x-lag (x-linked acrogigantism) due to dup(x)q(26)"," x-lag (x-linked acrogigantism) due to xq26 microduplication"," x-linked acrogigantism"]}