Congenital adrenal hyperplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CAH |
| Number of Symptoms | 12 |
| OrphanetNr: | 418 |
| OMIM Id: |
201710
201810 201910 202010 202110 613571 |
| ICD-10: |
E25.0 |
| UMLs: |
C0001627 |
| MeSH: |
D000312 |
| MedDRA: |
10010323 |
| Snomed: |
237751000 |
Prevalence, inheritance and age of onset:
| Prevalence: | 10 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Adrenogenital syndrome
-Rare endocrine disease -Rare genetic disease Genetic chronic primary adrenal insufficiency -Rare endocrine disease -Rare genetic disease Rare endocrine growth disease -Rare endocrine disease |
Symptom Information:
|
|
(HPO:0010458) | Female pseudohermaphroditism | Very frequent [Orphanet] | 17 / 7739 | |||
|
|
(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
|
|
(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0000127) | Renal salt wasting | 21 / 7739 | ||||
|
|
(HPO:0008221) | Adrenal hyperplasia | Very frequent [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0008258) | Congenital adrenal hyperplasia | 3 / 7739 | ||||
|
|
(HPO:0000840) | Adrenogenital syndrome | 6 / 7739 | ||||
|
|
(HPO:0005616) | Accelerated skeletal maturation | Very frequent [Orphanet] | 46 / 7739 | |||
|
|
(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0000822) | Hypertension | Very frequent [Orphanet] | 224 / 7739 | |||
|
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | Very frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|