PHA1A
MCID: PSD096
MIFTS: 42

Pseudohypoaldosteronism Type I, Autosomal Dominant (PHA1A) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Cardiovascular diseases

Aliases & Classifications for Pseudohypoaldosteronism Type I, Autosomal Dominant

Aliases & Descriptions for Pseudohypoaldosteronism Type I, Autosomal Dominant:

Name: Pseudohypoaldosteronism Type I, Autosomal Dominant 54 66 13
Autosomal Dominant Pseudohypoaldosteronism Type 1 12 50 56 14
Pha1a 12 50 66
Pseudohypoaldosteronism, Type I, Autosomal Dominant 54 69
Pseudohypoaldosteronism 1, Autosomal Dominant 66 29
Pseudohypoaldosteronism Type 1, Dominant 50 24
Renal Pseudohypoaldosteronism Type 1 50 56
Pseudohypoaldosteronism Type 1 Autosomal Dominant 50
Pha Type I, Autosomal Dominant 66
Autosomal Dominant Pha 1 12
Renal Pha1 50

Characteristics:

Orphanet epidemiological data:

56
renal pseudohypoaldosteronism type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
pseudohypoaldosteronism type i, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability infantile onset


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

OMIM 54 177735
Disease Ontology 12 DOID:0060855
ICD10 33 N25.8
MeSH 42 D011546
Orphanet 56 ORPHA171871
ICD10 via Orphanet 34 N25.8
MedGen 40 C1449842
UMLS 69 C1449843

Summaries for Pseudohypoaldosteronism Type I, Autosomal Dominant

OMIM : 54 Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal... (177735) more...

MalaCards based summary : Pseudohypoaldosteronism Type I, Autosomal Dominant, also known as autosomal dominant pseudohypoaldosteronism type 1, is related to pseudohypoaldosteronism, type i and pseudohypoaldosteronism, and has symptoms including vomiting, diarrhea and failure to thrive. 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 G-Beta Gamma Signaling. Affiliated tissues include kidney, and related phenotypes are growth/size/body region and homeostasis/metabolism

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 : 50 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).   last updated: 12/2/2011

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Pseudohypoaldosteronism Type I, Autosomal Dominant

Diseases in the Pseudohypoaldosteronism family:

Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism Type I, Autosomal Dominant Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Type I Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Type Iib Transient Pseudohypoaldosteronism

Diseases related to Pseudohypoaldosteronism Type I, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism, type i 10.8
2 pseudohypoaldosteronism 10.4
3 lyz-related familial visceral amyloidosis 10.1 SCNN1B SCNN1G
4 lztfl1- related bardet-biedl syndrome 10.1 SCNN1B SCNN1G
5 dystonia 25 10.0 NR3C2 REN
6 prostate neuroendocrine neoplasm 10.0 NR3C2 REN
7 hypoaldosteronism, congenital, due to cmo i deficiency 10.0 NR3C2 REN
8 cataract 21, multiple types 10.0 NR3C2 REN
9 merkel cell carcinoma 10.0 NR3C2 REN
10 esophagus squamous cell papilloma 10.0 NR3C2 REN
11 panuveitis 10.0 NR3C2 REN
12 familial nasal acilia 10.0 NR3C2 REN
13 immune system organ benign neoplasm 10.0 NR3C2 REN
14 bickerstaff brainstem encephalitis 10.0 SCNN1A SCNN1B SCNN1G
15 clear cell adenocarcinoma 9.9 NR3C2 REN
16 aorta angiosarcoma 9.9 NR3C2 REN
17 hemorrhagic cystitis 9.9 NR3C2 REN
18 fasciitis 9.9 SCNN1A SCNN1B
19 microphthalmia, isolated, with coloboma 7 9.9 NR3C2 REN SCNN1G
20 retinitis pigmentosa 9.9 NR3C2 REN
21 pulmonary sarcoidosis 9.8 NR3C2 SCNN1A SCNN1B SCNN1G
22 malignant biphasic mesothelioma 9.8 REN SCNN1B SCNN1G
23 hyperlysinemia 9.7 SCNN1A SCNN1B SGK1
24 hyperaldosteronism, familial, type iii 9.7 NR3C2 REN SCNN1B SCNN1G
25 lymphoproliferative syndrome 2 9.3 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1
26 bronchiectasis with or without elevated sweat chloride 3 9.2 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1
27 smith-mccort dysplasia 2 9.0 ERAS NR3C2 REN SCNN1A SCNN1B SCNN1G

Graphical network of the top 20 diseases related to Pseudohypoaldosteronism Type I, Autosomal Dominant:



Diseases related to Pseudohypoaldosteronism Type I, Autosomal Dominant

Symptoms & Phenotypes for Pseudohypoaldosteronism Type I, Autosomal Dominant

Symptoms by clinical synopsis from OMIM:

177735

Clinical features from OMIM:

177735

Human phenotypes related to Pseudohypoaldosteronism Type I, Autosomal Dominant:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 vomiting 32 HP:0002013
2 diarrhea 32 HP:0002014
3 failure to thrive 32 HP:0001508
4 hypotension 32 HP:0002615
5 dehydration 32 HP:0001944
6 feeding difficulties 32 HP:0011968
7 hyperaldosteronism 32 HP:0000859
8 hyponatremia 32 HP:0002902
9 metabolic acidosis 32 HP:0001942
10 increased circulating renin level 32 HP:0000848
11 hyperkalemia 32 HP:0002153
12 pseudohypoaldosteronism 32 HP:0008242
13 hyperactive renin-angiotensin system 32 HP:0000841

UMLS symptoms related to Pseudohypoaldosteronism Type I, Autosomal Dominant:


diarrhea, vomiting

MGI Mouse Phenotypes related to Pseudohypoaldosteronism Type I, Autosomal Dominant:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1
2 homeostasis/metabolism MP:0005376 9.43 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1
3 renal/urinary system MP:0005367 9.1 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1

Drugs & Therapeutics for Pseudohypoaldosteronism Type I, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Pseudohypoaldosteronism Type I, Autosomal Dominant

Genetic Tests for Pseudohypoaldosteronism Type I, Autosomal Dominant

Genetic tests related to Pseudohypoaldosteronism Type I, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Pseudohypoaldosteronism Type 1 Autosomal Dominant 29
2 Pseudohypoaldosteronism Type 1, Dominant 24 NR3C2

Anatomical Context for Pseudohypoaldosteronism Type I, Autosomal Dominant

MalaCards organs/tissues related to Pseudohypoaldosteronism Type I, Autosomal Dominant:

39
Kidney

Publications for Pseudohypoaldosteronism Type I, Autosomal Dominant

Variations for Pseudohypoaldosteronism Type I, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism Type I, Autosomal Dominant:

66 (show all 13)
id Symbol AA change Variation ID SNP ID
1 NR3C2 p.Leu924Pro VAR_015627
2 NR3C2 p.Gly633Arg VAR_031268
3 NR3C2 p.Cys645Ser VAR_031269
4 NR3C2 p.Arg659Ser VAR_031270
5 NR3C2 p.Pro759Ser VAR_031271
6 NR3C2 p.Leu769Pro VAR_031272
7 NR3C2 p.Asn770Lys VAR_031273
8 NR3C2 p.Gln776Arg VAR_031274
9 NR3C2 p.Ser805Pro VAR_031275
10 NR3C2 p.Ser815Arg VAR_031276
11 NR3C2 p.Ser818Leu VAR_031277
12 NR3C2 p.Glu972Gly VAR_031278
13 NR3C2 p.Leu979Pro VAR_031279

ClinVar genetic disease variations for Pseudohypoaldosteronism Type I, Autosomal Dominant:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 NR3C2 NR3C2, 1-BP DEL, 1226G deletion Pathogenic
2 NR3C2 NR3C2, 1-BP DEL, 1597T deletion Pathogenic
3 NR3C2 NM_000901.4(NR3C2): c.1609C> T (p.Arg537Ter) single nucleotide variant Pathogenic rs121912562 GRCh37 Chromosome 4, 149356404: 149356404
4 NR3C2 NR3C2, IVS5, 1-BP DEL, A, +3 deletion Pathogenic
5 NR3C2 NR3C2, 1-BP INS, 2871C insertion Pathogenic
6 NR3C2 NM_000901.4(NR3C2): c.2771T> C (p.Leu924Pro) single nucleotide variant Pathogenic rs121912563 GRCh37 Chromosome 4, 149035283: 149035283
7 NR3C2 NR3C2, 1-BP INS, 1354T insertion Pathogenic
8 NR3C2 NR3C2, 8-BP DEL, NT537 deletion Pathogenic
9 NR3C2 NM_000901.4(NR3C2): c.1935C> A (p.Cys645Ter) single nucleotide variant Pathogenic rs121912564 GRCh37 Chromosome 4, 149115976: 149115976
10 NR3C2 NM_000901.4(NR3C2): c.2327A> G (p.Gln776Arg) single nucleotide variant Pathogenic rs121912565 GRCh37 Chromosome 4, 149075740: 149075740
11 NR3C2 NM_000901.4(NR3C2): c.1897G> A (p.Gly633Arg) single nucleotide variant Pathogenic rs121912566 GRCh37 Chromosome 4, 149181130: 149181130
12 NR3C2 NM_000901.4(NR3C2): c.2936T> C (p.Leu979Pro) single nucleotide variant Pathogenic rs121912567 GRCh37 Chromosome 4, 149002514: 149002514
13 NR3C2 NM_000901.4(NR3C2): c.488C> G (p.Ser163Ter) single nucleotide variant Pathogenic rs121912568 GRCh37 Chromosome 4, 149357525: 149357525
14 NR3C2 NM_000901.4(NR3C2): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic rs121912569 GRCh37 Chromosome 4, 149002611: 149002611
15 NR3C2 NM_000901.4(NR3C2): c.1308T> A (p.Cys436Ter) single nucleotide variant Pathogenic rs121912570 GRCh37 Chromosome 4, 149356705: 149356705
16 NR3C2 NM_000901.4(NR3C2): c.2017C> T (p.Arg673Ter) single nucleotide variant Pathogenic rs121912571 GRCh37 Chromosome 4, 149076050: 149076050
17 NR3C2 NM_000901.4(NR3C2): c.2024C> G (p.Ser675Ter) single nucleotide variant Pathogenic rs121912572 GRCh37 Chromosome 4, 149076043: 149076043
18 NR3C2 NM_000901.4(NR3C2): c.2453C> T (p.Ser818Leu) single nucleotide variant Pathogenic rs121912573 GRCh37 Chromosome 4, 149073677: 149073677
19 NR3C2 NM_000901.4(NR3C2): c.2915A> G (p.Glu972Gly) single nucleotide variant Pathogenic rs121912574 GRCh37 Chromosome 4, 149002535: 149002535

Expression for Pseudohypoaldosteronism Type I, Autosomal Dominant

Search GEO for disease gene expression data for Pseudohypoaldosteronism Type I, Autosomal Dominant.

Pathways for Pseudohypoaldosteronism Type I, Autosomal Dominant

Pathways related to Pseudohypoaldosteronism Type I, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 SCNN1A SCNN1B SCNN1G SGK1
2
Show member pathways
12.43 SCNN1A SCNN1B SCNN1G
3
Show member pathways
12.17 SCNN1A SCNN1B SCNN1G
4
Show member pathways
12.12 SCNN1A SCNN1B SCNN1G SGK1
5
Show member pathways
11.63 SCNN1A SCNN1B SCNN1G
6 11.4 ERAS SGK1
7
Show member pathways
11.34 NR3C2 REN
8 10.98 SCNN1A SCNN1B SCNN1G
9 10.72 SCNN1A SCNN1B SCNN1G SGK1
10 10.59 NR3C2 SCNN1A SCNN1B SCNN1G SGK1
11 10.45 SCNN1A SCNN1B SCNN1G

GO Terms for Pseudohypoaldosteronism Type I, Autosomal Dominant

Cellular components related to Pseudohypoaldosteronism Type I, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.8 ERAS NR3C2 REN SCNN1A SCNN1B SCNN1G
2 plasma membrane GO:0005886 9.63 ERAS REN SCNN1A SCNN1B SCNN1G SGK1
3 apical plasma membrane GO:0016324 9.13 SCNN1A SCNN1B SCNN1G
4 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G

Biological processes related to Pseudohypoaldosteronism Type I, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.63 SCNN1A SCNN1B SCNN1G
2 ion transmembrane transport GO:0034220 9.62 SCNN1A SCNN1B SCNN1G SGK1
3 sodium ion transmembrane transport GO:0035725 9.54 SCNN1A SCNN1B SCNN1G
4 sodium ion transport GO:0006814 9.46 SCNN1A SCNN1B SCNN1G SGK1
5 regulation of blood pressure GO:0008217 9.43 REN SGK1
6 sensory perception of taste GO:0050909 9.43 SCNN1A SCNN1B SCNN1G
7 excretion GO:0007588 9.4 SCNN1B SCNN1G
8 sodium ion homeostasis GO:0055078 9.13 SCNN1A SCNN1B SCNN1G
9 multicellular organismal water homeostasis GO:0050891 8.8 SCNN1A SCNN1B SCNN1G

Molecular functions related to Pseudohypoaldosteronism Type I, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 9.13 SCNN1A SCNN1B SCNN1G
2 ligand-gated sodium channel activity GO:0015280 8.8 SCNN1A SCNN1B SCNN1G

Sources for Pseudohypoaldosteronism Type I, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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