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Renal pseudohypoaldosteronism type 1
1 OMIM reference -
1 associated gene
18 connected diseases
No signs/symptoms info
Disease Type of connection
Pseudohyperaldosteronism type 2
Papillary or follicular thyroid carcinoma
Glucocorticoid resistance
Acromegaly
Cerebellar ataxia - hypogonadism
Complete androgen insensitivity syndrome
Familial hypospadias
Familial isolated pituitary adenoma
Kennedy disease
Partial androgen insensitivity syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Baraitser-Winter syndrome
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Synonym(s):
- Autosomal dominant pseudohypoaldosteronism type 1
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NR3C2 P08235600983
No signs/symptoms info available.