Familial hypoaldosteronism

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 15
OrphanetNr: 427
OMIM Id: 203400
606984
610600
ICD-10: E27.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic adrenal disease
 -Rare genetic disease
Rare hypoaldosteronism
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
 (HPO:0000127) Renal salt wasting 21 / 7739
2
 (HPO:0002924) Decreased circulating aldosterone level 7 / 7739
3
 (HPO:0000848) Increased circulating renin level 14 / 7739
4
 (HPO:0004319) Hypoaldosteronism 9 / 7739
5
 (HPO:0002013) Vomiting 191 / 7739
6
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
7
 (HPO:0001508) Failure to thrive 454 / 7739
8
 (HPO:0001510) Growth delay 295 / 7739
9
 (HPO:0002615) Hypotension 52 / 7739
10
 (HPO:0002153) Hyperkalemia 25 / 7739
11
 (HPO:0002902) Hyponatremia 37 / 7739
12
 (HPO:0001954) Episodic fever 27 / 7739
13
 (HPO:0001944) Dehydration 59 / 7739
14
 (HPO:0003623) Neonatal onset 22 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: