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PHA1A
MCID: PSD112
MIFTS: 49
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Pseudohypoaldosteronism, Type I, Autosomal Dominant (PHA1A)
Categories:
Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Pseudohypoaldosteronism, Type I, Autosomal Dominant:
Characteristics:Orphanet epidemiological data:60
renal pseudohypoaldosteronism type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy highly variable phenotype improvement with age favorable response to sodium chloride treatment some patients may be clinically asymptomatic HPO:33
pseudohypoaldosteronism, type i, autosomal dominant:
Onset and clinical course infantile onset Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Nephrological diseases Cardiovascular diseases Endocrine diseases Blood diseases
ICD10:
35
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OMIM
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58
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 become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I (summary by Geller et al., 1998).
Autosomal recessive pseudohypoaldosteronism type I (PHA1B; 264350), caused by mutation in any one of 3 genes encoding the epithelial sodium channel (ENaC), is a similar but more severe systemic disorder with persistence into adulthood. (177735)
MalaCards based summary : Pseudohypoaldosteronism, Type I, Autosomal Dominant, also known as autosomal dominant pseudohypoaldosteronism type 1, is related to pseudohypoaldosteronism, type i, autosomal recessive and pseudohypoaldosteronism, and has symptoms including vomiting and diarrhea. An important gene associated with Pseudohypoaldosteronism, Type I, Autosomal Dominant is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Cefepime and Maleic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and cortex, and related phenotypes are failure to thrive and hypotension Disease Ontology : 12 A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has material basis in heterozygous mutation in the NR3C2 gene on chromosome 4q31. NIH Rare Diseases : 54 Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits autosomal dominant inheritance with variable expression. It is caused by by mutations in the mineralocorticoid receptor gene (NR3C2). UniProtKB/Swiss-Prot : 76 Pseudohypoaldosteronism 1, autosomal dominant: A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. |
Human phenotypes related to Pseudohypoaldosteronism, Type I, Autosomal Dominant:33 (show all 13)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:177735UMLS symptoms related to Pseudohypoaldosteronism, Type I, Autosomal Dominant:vomiting, diarrhea MGI Mouse Phenotypes related to Pseudohypoaldosteronism, Type I, Autosomal Dominant:47
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Drugs for Pseudohypoaldosteronism, Type I, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Pseudohypoaldosteronism, Type I, Autosomal Dominant:42
Kidney,
Heart,
Cortex,
Adrenal Cortex,
Adrenal Gland
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Articles related to Pseudohypoaldosteronism, Type I, Autosomal Dominant:(show all 13)
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Genes related to Pseudohypoaldosteronism, Type I, Autosomal Dominant (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism, Type I, Autosomal Dominant:76 (show all 13)
ClinVar genetic disease variations for Pseudohypoaldosteronism, Type I, Autosomal Dominant:6 (show top 50) (show all 689)
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Search
GEO
for disease gene expression data for Pseudohypoaldosteronism, Type I, Autosomal Dominant.
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Pathways related to Pseudohypoaldosteronism, Type I, Autosomal Dominant according to GeneCards Suite gene sharing:
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Cellular components related to Pseudohypoaldosteronism, Type I, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Pseudohypoaldosteronism, Type I, Autosomal Dominant according to GeneCards Suite gene sharing:
Molecular functions related to Pseudohypoaldosteronism, Type I, Autosomal Dominant according to GeneCards Suite gene sharing:
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