{"Name":"Congenital adrenal hypoplasia, X-linked","DiseaseID__c":"GARD:0000555","id":555,"encodedName":"congenital-adrenal-hypoplasia-x-linked","IsDeleted":false,"Disease_Name_Full__c":"Congenital adrenal hypoplasia, X-linked","Xref_IDs__c":"237764004; 93235007; C0342482; C123725; DOID:0080156; MEDGEN:87442; MONDO:0010264; OMIM:300200; ORPHA:95702","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","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":2,"Description_Source__c":"MONDO:0010264","Disease_Description__c":"A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.","GARD_Name__c":"Congenital adrenal hypoplasia, X-linked","GARD_Synonym__c":"adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; adrenal hypoplasia, congenital, x-linked recessive; ahc; isolated x-linked adrenal hypoplasia congenita; x-linked adrenal hypoplasia congenita; x-linked ahc; x-linked congenital adrenal hypoplasia","Curated_Disease_Description_Source__c":"GARD:0000555","Curated_Disease_Description__c":"X-linked adrenal hypoplasia congenita is a disorder that is noticeable from birth (congenital) and affects the development of the adrenal glands, which are hormone-producing (endocrine) organs (glands) located on top of each kidney. These glands produce a variety of hormones that regulate many essential functions in the body, such as response to stress. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood glucose (hypoglycemia), and shock. If untreated, these complications are often life-threatening. Individuals with X-linked adrenal hypoplasia congenita may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:95702","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010264","ORPHANET_ID__c":"ORPHA:95702","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia suprarrenal congénita ligada al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipoplasia suprarrenal congénita ligada al cromosoma x","Spanish_GARD_Synonym__c":null,"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":"X-linked adrenal hypoplasia congenita is a disorder that is noticeable from birth (congenital) and affects the development of the adrenal glands, which are hormone-producing (endocrine) organs (glands) located on top of each kidney. These glands produce a variety of hormones that regulate many essential functions in the body, such as response to stress. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood glucose (hypoglycemia), and shock. If untreated, these complications are often life-threatening. Individuals with X-linked adrenal hypoplasia congenita may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family.","Curated_Disease_Description_Source__c":"GARD:0000555","GARD_Synonym__c":"adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism; adrenal hypoplasia, congenital, x-linked recessive; ahc; isolated x-linked adrenal hypoplasia congenita; x-linked adrenal hypoplasia congenita; x-linked ahc; x-linked congenital adrenal hypoplasia","Name":"Congenital adrenal hypoplasia, X-linked","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Adrenal Diseases Foundation","Website__c":"https://www.nadf.us"}],"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pituitary deficiency","Tag_Category__c":"Account","curated_tag_name":"Pituitary deficiencies"},{"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":"Childhood","Provided_By__c":"ORPHA:95702"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:95702"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342482"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000555","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1431","Source__c":"Gene Review","Xref__c":"NBK1431"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080156","Source__c":"MONDO:0010264","Xref__c":"DOID:0080156"},{"URL__c":"https://www.orpha.net/en/disease/detail/95702","Source__c":"C0342482; MONDO:0010264; ORPHA:95702","Xref__c":"ORPHA:95702"},{"URL__c":"https://www.omim.org/entry/300200","Source__c":"C0342482; MONDO:0010264; ORPHA:95702","Xref__c":"OMIM:300200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87442","Source__c":"C0342482","Xref__c":"MEDGEN:87442"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342482","Source__c":"C0342482","Xref__c":"C0342482"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123725","Source__c":"C0342482; MONDO:0010264","Xref__c":"C123725"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=93235007","Source__c":"MONDO:0010264","Xref__c":"93235007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010264","Source__c":"GARD:0000555","Xref__c":"MONDO:0010264"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-adrenal-hypoplasia-congenita","Source__c":"GARD:0000555","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-adrenal-hypoplasia-congenita"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237764004","Source__c":"C0342482","Xref__c":"237764004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NR0B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nr0b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040171","HPO_Synonym__c":"Decreased serum testosterone level; Decreased serum testosterone levels; Low serum testosterone level; Low serum testosterone levels","HPO_Name__c":"Decreased serum testosterone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008186","HPO_Name__c":"Adrenocortical cytomegaly","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Occasional (5-29%)","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:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Always (100%)","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:95702","HPO_Frequency__c":"Frequent (30-79%)","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:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008207","HPO_Synonym__c":"Adrenocortical insufficiency; Primary adrenocortical failure","HPO_Name__c":"Primary adrenal insufficiency","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the circulating level of luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030344","HPO_Synonym__c":"Decreased circulating luteinising hormone level","HPO_Name__c":"Decreased circulating luteinizing hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased sexual desire.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0046504","HPO_Name__c":"Decreased libido","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","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:95702","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:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced number or density of pubic hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002225","HPO_Synonym__c":"Decreased sexual hair; Sparse pubic hair; sparse to absent pubic hair","HPO_Name__c":"Sparse pubic hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000798","HPO_Synonym__c":"Low sperm count; Oligospermia","HPO_Name__c":"Oligozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100639","HPO_Synonym__c":"Abnormal erection; Erectile abnormalities","HPO_Name__c":"Erectile dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Very frequent (80-99%)","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:95702","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:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002153","HPO_Synonym__c":"Increased circulating potassium concentration","HPO_Name__c":"Hyperkalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:95702","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Neurodevelopmental disabilities","Pediatrics"],"Account":["Infertility","Pituitary deficiency"]},"synonyms":["adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism"," adrenal hypoplasia, congenital, x-linked recessive"," ahc"," isolated x-linked adrenal hypoplasia congenita"," x-linked adrenal hypoplasia congenita"," x-linked ahc"," x-linked congenital adrenal hypoplasia"]}