Cytomegalic congenital adrenal hypoplasia

General Information (adopted from Orphanet):

Synonyms, Signs: X-linked congenital adrenal hypoplasia
Number of Symptoms 18
OrphanetNr: 95702
OMIM Id: 202155
300200
ICD-10: E27.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Neonatal
Childhood
20301604 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic chronic primary adrenal insufficiency
 -Rare endocrine disease
 -Rare genetic disease
Hypogonadotropic hypogonadism associated with other endocrinopathies
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000127) Renal salt wasting 25079468 IBIS 21 / 7739
2
 (HPO:0000044) Hypogonadotrophic hypogonadism 24265530 IBIS 56 / 7739
3
 (HPO:0001254) Lethargy 24265530 IBIS 104 / 7739
4
 (HPO:0100543) Cognitive impairment 19508677 IBIS 230 / 7739
5
 (HPO:0008233) Decreased serum progesterone 20301604 IBIS 7 / 7739
6
 (HPO:0000826) Precocious puberty 25079468 IBIS 42 / 7739
7
 (HPO:0003154) Increased circulating ACTH level 25079468 IBIS 8 / 7739
8
 (HPO:0000848) Increased circulating renin level 25079468 IBIS 14 / 7739
9
 (HPO:0002924) Decreased circulating aldosterone level 25079468 IBIS 7 / 7739
10
 (HPO:0000835) Adrenal hypoplasia 25079468 IBIS 23 / 7739
11
 (HPO:0000846) Adrenal insufficiency 20301604 IBIS 24 / 7739
12
 (HPO:0011968) Feeding difficulties 20301604 IBIS 240 / 7739
13
 (HPO:0002013) Vomiting 25079468 IBIS 191 / 7739
14
 (HPO:0006579) Prolonged neonatal jaundice 25079468 IBIS 25 / 7739
15
 (HPO:0001000) Abnormality of skin pigmentation 24265530 IBIS 105 / 7739
16
 (HPO:0002153) Hyperkalemia 25079468 IBIS 25 / 7739
17
 (HPO:0001943) Hypoglycemia 25079468 IBIS 131 / 7739
18
 (HPO:0002902) Hyponatremia 25079468 IBIS 37 / 7739

Associated genes:

NR0B1; IL1RAPL1; GK;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: