Pseudohypoaldosteronism, type ib1, autosomal recessive

Preferred Label : Pseudohypoaldosteronism, type ib1, autosomal recessive;

Symbol : PHA1B1;

CISMeF acronym : PHA1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pha I, autosomal recessive; Pseudohypoaldosteronism, type I, autosomal recessive; PHA1B;

Description : Autosomal recessive pseudohypoaldosteronism type I is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis (CF; 219700). Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age (review by Scheinman et al., 1999). A milder, autosomal dominant form of type I pseudohypoaldosteronism (PHA1A; 177735) is caused by mutations in the mineralocorticoid receptor gene (MCR, NR3C2; 600983). Gitelman syndrome (263800), another example of primary renal tubular salt wasting, is due to mutation in the thiazide-sensitive sodium-chloride cotransporter (SLC12A3; 600968).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gamma subunit of the nonvoltage-gated sodium channel 1 gene (SCNN1G, 600761.0002); Caused by mutation in the alpha subunit of the nonvoltage-gated sodium channel 1 gene (SCNN1A, 600228.0001); Caused by mutation in the beta subunit of the nonvoltage-gated sodium channel 1 gene (SCNN1B, 600760.0003);

Laboratory abnormalities : Hyponatremia; Hyperkalemia; Increased serum aldosterone; Increased plasma renin activity; Markedly elevated sodium in urine, sweat, saliva, and stool;

Prefixed ID : #264350;

Details

Origin ID

264350;

UMLS CUI

C5774176;

Automatic exact mappings (from CISMeF team)
- autosomal recessive pseudohypoaldosteronism type 1 [DO Concept]
- pseudohypoaldosteronism [MeSH Descriptor]
Currated CISMeF NLP mapping
- Generalized pseudohypoaldosteronism type 1 [ORDO Disease]
- pseudohypoaldosteronism, type I, autosomal recessive [MeSH concept]
DO Cross reference
- autosomal recessive pseudohypoaldosteronism type 1 [DO Concept]
Genes related to phenotype
- Sodium channel, epithelial 1, alpha subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Hyperactive renin-angiotensin system [HPO term]
- Hyperaldosteronism [HPO term]
- Hyperkalemia [HPO term]
- Hyponatremia [HPO term]
- Hypotension [HPO term]
- Metabolic acidosis [HPO term]
- Neonatal onset [HPO term]
- Pseudohypoaldosteronism [HPO term]
- Recurrent respiratory infections [HPO term]
- Renal salt wasting [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Generalized pseudohypoaldosteronism type 1 [ORDO Disease]
- Pseudohypoaldosteronism type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized pseudohypoaldosteronism type 1 [ORDO Disease]
- autosomal dominant pseudohypoaldosteronism type 1 [DO Concept]
- pseudohypoaldosteronism, type I, autosomal recessive [MeSH concept]
Validated automatic mappings to NTBT
- Pseudohypoaldosteronism Type 1 [NCIt concept]

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