HYPOADRENOCORTICISM, FAMILIAL

General Information (adopted from Orphanet):

Synonyms, Signs: ADRENAL HYPOPLASIA
ADRENAL APLASIA
ADDISON DISEASE
Number of Symptoms 18
OrphanetNr:
OMIM Id: 240200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures 1245 / 7739
2
 (HPO:0000835) Adrenal hypoplasia 23 / 7739
3
 (HPO:0000846) Adrenal insufficiency 24 / 7739
4
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
5
 (HPO:0002013) Vomiting 191 / 7739
6
 (HPO:0011968) Feeding difficulties 240 / 7739
7
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
8
 (HPO:0000961) Cyanosis 60 / 7739
9
 (HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
10
 (HPO:0001635) Congestive heart failure 232 / 7739
11
 (HPO:0001943) Hypoglycemia 131 / 7739
12
 (HPO:0002902) Hyponatremia 37 / 7739
13
 (HPO:0002153) Hyperkalemia 25 / 7739
14
 (HPO:0002104) Apnea 106 / 7739
15
 (OMIM) Adrenal aplasia 1 / 7739
16
 (MedDRA:10011705) Cyanosis neonatal 1 / 7739
17
 (OMIM) Apnea, episodic, neonatal 6 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: