Renal pseudohypoaldosteronism type 1

General Information (adopted from Orphanet):

Synonyms, Signs: PHA I, AUTOSOMAL DOMINANT
PHA1A
Autosomal dominant pseudohypoaldosteronism type 1
Number of Symptoms 18
OrphanetNr: 171871
OMIM Id: 177735
ICD-10: N25.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Pseudohypoaldosteronism type 1
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000859) Hyperaldosteronism 17 / 7739
2
 (HPO:0000841) Hyperactive renin-angiotensin system 7 / 7739
3
 (HPO:0008242) Pseudohypoaldosteronism 7 / 7739
4
 (HPO:0000848) Increased circulating renin level 14 / 7739
5
 (HPO:0002014) Diarrhea 225 / 7739
6
 (HPO:0011968) Feeding difficulties 240 / 7739
7
 (HPO:0002013) Vomiting 191 / 7739
8
 (HPO:0001508) Failure to thrive 454 / 7739
9
 (HPO:0002615) Hypotension 52 / 7739
10
 (HPO:0002153) Hyperkalemia 25 / 7739
11
 (HPO:0001942) Metabolic acidosis 81 / 7739
12
 (HPO:0002902) Hyponatremia 37 / 7739
13
 (HPO:0001944) Dehydration 59 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (OMIM) Renal aldosterone resistance 1 / 7739
16
 (HPO:0003593) Infantile onset 249 / 7739
17
 (OMIM) Increased serum aldosterone 2 / 7739
18
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually ...
Clinical Description OMIM Hanukoglu (1991) reported a family with autosomal dominant inheritance of PHA (Hanukoglu et al., 1978). The proband presented with renal salt wasting in infancy, associated with vomiting, failure to thrive, and short stature. Laboratory studies showed hyponatremia and ...
Molecular genetics OMIM In 4 familial cases of autosomal dominant type I pseudohypoaldosteronism and in 1 sporadic patient, Geller et al. (1998) identified 4 different heterozygous mutations in the mineralocorticoid receptor gene (600983.0001-600983.0004).

In affected members of a Japanese ...