MCID: FML275
MIFTS: 17

Familial Hypoaldosteronism

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Hypoaldosteronism

MalaCards integrated aliases for Familial Hypoaldosteronism:

Name: Familial Hypoaldosteronism 59

Characteristics:

Orphanet epidemiological data:

59
familial hypoaldosteronism
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 34 E27.4
Orphanet 59 ORPHA427

Summaries for Familial Hypoaldosteronism

MalaCards based summary : Familial Hypoaldosteronism is related to early-onset familial hypoaldosteronism and late-onset familial hypoaldosteronism. An important gene associated with Familial Hypoaldosteronism is CYP11B2 (Cytochrome P450 Family 11 Subfamily B Member 2). Affiliated tissues include adrenal gland, and related phenotypes are renal salt wasting and increased circulating renin level

Related Diseases for Familial Hypoaldosteronism

Diseases in the Hypoaldosteronism family:

Familial Hypoaldosteronism Rare Hypoaldosteronism
Early-Onset Familial Hypoaldosteronism Late-Onset Familial Hypoaldosteronism

Diseases related to Familial Hypoaldosteronism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 early-onset familial hypoaldosteronism 12.3
2 late-onset familial hypoaldosteronism 12.3
3 hyperaldosteronism, familial, type i 11.3
4 hypoadrenalism 9.9
5 hypoaldosteronism 9.9

Graphical network of the top 20 diseases related to Familial Hypoaldosteronism:



Diseases related to Familial Hypoaldosteronism

Symptoms & Phenotypes for Familial Hypoaldosteronism

Human phenotypes related to Familial Hypoaldosteronism:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal salt wasting 59 32 obligate (100%) Obligate (100%) HP:0000127
2 increased circulating renin level 59 32 obligate (100%) Obligate (100%) HP:0000848
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 hyponatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002902
5 hyperkalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002153
6 decreased circulating aldosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0004319
7 hypovolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011106
8 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
9 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
10 growth delay 59 32 frequent (33%) Frequent (79-30%) HP:0001510
11 proximal renal tubular acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0002049
12 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
13 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
14 metabolic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0001942
15 orthostatic hypotension 59 32 frequent (33%) Frequent (79-30%) HP:0001278
16 decreased urinary potassium 59 32 frequent (33%) Frequent (79-30%) HP:0012364
17 recurrent fever 32 frequent (33%) HP:0001954
18 hypotension 59 Very frequent (99-80%)
19 episodic fever 59 Frequent (79-30%)
20 adrenal insufficiency 59 Very frequent (99-80%)

Drugs & Therapeutics for Familial Hypoaldosteronism

Search Clinical Trials , NIH Clinical Center for Familial Hypoaldosteronism

Genetic Tests for Familial Hypoaldosteronism

Anatomical Context for Familial Hypoaldosteronism

MalaCards organs/tissues related to Familial Hypoaldosteronism:

41
Adrenal Gland

Publications for Familial Hypoaldosteronism

Articles related to Familial Hypoaldosteronism:

(show all 17)
# Title Authors PMID Year
1
A particular phenotype in a girl with aldosterone synthase deficiency. 71
15240589 2004
2
A compound heterozygote case of type II aldosterone synthase deficiency. 71
12788848 2003
3
Type 1 aldosterone synthase deficiency presenting in a middle-aged man. 71
11238478 2001
4
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. 71
9814506 1998
5
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. 71
9625333 1998
6
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997. 71
9360501 1997
7
CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). 71
9177280 1997
8
Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. 71
8439335 1993
9
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. 71
1594605 1992
10
Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. 71
1346492 1992
11
Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies. 71
2044581 1991
12
An inherited defect in aldosterone biosynthesis caused by a mutation in or near the gene for steroid 11-hydroxylase. 71
3262827 1988
13
The nature of the defect in a salt-wasting disorder in Jews of Iran. 71
838841 1977
14
Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait. 71
830445 1977
15
Salt wasting, raised plasma-renin activity, and normal or high plasma-aldosterone: a form of pseudohypoaldosteronism. 71
4121586 1973
16
A NEW HEREDITARY DEFECT IN THE BIOSYNTHESIS OF ALDOSTERONE: URINARY C21-CORTICOSTEROID PATTERN IN THREE RELATED PATIENTS WITH A SALT-LOSING SYNDROME, SUGGESTING AN 18-OXIDATION DEFECT. 71
14250395 1964
17
[Chronic familial hypoaldosteronism of neonatal onset]. 38
13831230 1961

Variations for Familial Hypoaldosteronism

Expression for Familial Hypoaldosteronism

Search GEO for disease gene expression data for Familial Hypoaldosteronism.

Pathways for Familial Hypoaldosteronism

GO Terms for Familial Hypoaldosteronism

Sources for Familial Hypoaldosteronism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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38 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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