MCID: FML275
MIFTS: 26

Familial Hypoaldosteronism

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Hypoaldosteronism

MalaCards integrated aliases for Familial Hypoaldosteronism:

Name: Familial Hypoaldosteronism 58

Characteristics:

Orphanet epidemiological data:

58
familial hypoaldosteronism
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Familial Hypoaldosteronism

MalaCards based summary : Familial Hypoaldosteronism is related to hyperaldosteronism, familial, type i and early-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

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal salt wasting 58 31 obligate (100%) Obligate (100%) HP:0000127
2 increased circulating renin level 58 31 obligate (100%) Obligate (100%) HP:0000848
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
5 hyperkalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002153
6 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
7 hypovolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011106
8 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
9 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
10 proximal renal tubular acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0002049
11 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
12 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
13 orthostatic hypotension 58 31 frequent (33%) Frequent (79-30%) HP:0001278
14 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
15 recurrent fever 58 31 frequent (33%) Frequent (79-30%) HP:0001954
16 decreased urinary potassium 58 31 frequent (33%) Frequent (79-30%) HP:0012364
17 hypotension 58 Very frequent (99-80%)
18 metabolic acidosis 58 Frequent (79-30%)
19 adrenal insufficiency 58 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:

40
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. 6
15240589 2004
2
A compound heterozygote case of type II aldosterone synthase deficiency. 6
12788848 2003
3
Type 1 aldosterone synthase deficiency presenting in a middle-aged man. 6
11238478 2001
4
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. 6
9814506 1998
5
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. 6
9625333 1998
6
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997. 6
9360501 1997
7
CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). 6
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. 6
8439335 1993
9
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. 6
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. 6
1346492 1992
11
Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies. 6
2044581 1991
12
An inherited defect in aldosterone biosynthesis caused by a mutation in or near the gene for steroid 11-hydroxylase. 6
3262827 1988
13
The nature of the defect in a salt-wasting disorder in Jews of Iran. 6
838841 1977
14
Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait. 6
830445 1977
15
Salt wasting, raised plasma-renin activity, and normal or high plasma-aldosterone: a form of pseudohypoaldosteronism. 6
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. 6
14250395 1964
17
[Chronic familial hypoaldosteronism of neonatal onset]. 61
13831230 1961

Variations for Familial Hypoaldosteronism

ClinVar genetic disease variations for Familial Hypoaldosteronism:

6 (show top 50) (show all 194)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP11B2 CYP11B2, 5-BP DEL Deletion Pathogenic 16878
2 LOC106799834 NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro) SNV Pathogenic 16879 rs72554627 8:143993962-143993962 8:142912546-142912546
3 LOC106799834 NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) SNV Pathogenic 16880 rs121912977 8:143996157-143996157 8:142914741-142914741
4 CYP11B2 CYP11B2, 6-BP DUP, CODON 143 Duplication Pathogenic 16882
5 LOC106799834 NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala) SNV Pathogenic 16885 rs72554626 8:143993416-143993416 8:142912000-142912000
6 LOC106799834 NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter) SNV Pathogenic 16886 rs121912979 8:143995820-143995820 8:142914404-142914404
7 LOC106799834 NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp) SNV Pathogenic 16876 rs28931609 8:143996516-143996516 8:142915100-142915100
8 LOC106799834 NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) SNV Pathogenic 16877 rs61757294 8:143994266-143994266 8:142912850-142912850
9 LOC106799834 NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) SNV Pathogenic 16881 rs121912978 8:143996503-143996503 8:142915087-142915087
10 LOC106799834 NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) Deletion Likely pathogenic 847988 8:143999109-143999118 8:142917693-142917702
11 LOC106799834 NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) SNV Uncertain significance 362219 rs577489337 8:143996528-143996528 8:142915112-142915112
12 LOC106799834 NM_000498.3(CYP11B2):c.*789G>A SNV Uncertain significance 362176 rs61763990 8:143992607-143992607 8:142911191-142911191
13 LOC106799834 NM_000498.3(CYP11B2):c.*504C>T SNV Uncertain significance 362185 rs201487778 8:143992892-143992892 8:142911476-142911476
14 LOC106799834 NM_000498.3(CYP11B2):c.395+10G>A SNV Uncertain significance 362225 rs193166276 8:143998465-143998465 8:142917049-142917049
15 LOC106799834 NM_000498.3(CYP11B2):c.*204C>G SNV Uncertain significance 362190 rs773811282 8:143993192-143993192 8:142911776-142911776
16 LOC106799834 NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) SNV Uncertain significance 740402 rs148205451 8:143999248-143999248 8:142917832-142917832
17 LOC106799834 NM_000498.3(CYP11B2):c.*993A>G SNV Uncertain significance 911201 8:143992403-143992403 8:142910987-142910987
18 LOC106799834 NM_000498.3(CYP11B2):c.*993A>G SNV Uncertain significance 911201 8:143992403-143992403 8:142910987-142910987
19 LOC106799834 NM_000498.3(CYP11B2):c.*613C>T SNV Uncertain significance 911265 8:143992783-143992783 8:142911367-142911367
20 LOC106799834 NM_000498.3(CYP11B2):c.*613C>T SNV Uncertain significance 911265 8:143992783-143992783 8:142911367-142911367
21 LOC106799834 NM_000498.3(CYP11B2):c.*591T>G SNV Uncertain significance 911266 8:143992805-143992805 8:142911389-142911389
22 LOC106799834 NM_000498.3(CYP11B2):c.*591T>G SNV Uncertain significance 911266 8:143992805-143992805 8:142911389-142911389
23 LOC106799834 NM_000498.3(CYP11B2):c.*879G>A SNV Uncertain significance 911396 8:143992517-143992517 8:142911101-142911101
24 LOC106799834 NM_000498.3(CYP11B2):c.*879G>A SNV Uncertain significance 911396 8:143992517-143992517 8:142911101-142911101
25 LOC106799834 NM_000498.3(CYP11B2):c.*876C>A SNV Uncertain significance 911397 8:143992520-143992520 8:142911104-142911104
26 LOC106799834 NM_000498.3(CYP11B2):c.*876C>A SNV Uncertain significance 911397 8:143992520-143992520 8:142911104-142911104
27 LOC106799834 NM_000498.3(CYP11B2):c.*25A>C SNV Uncertain significance 911520 8:143993371-143993371 8:142911955-142911955
28 LOC106799834 NM_000498.3(CYP11B2):c.*25A>C SNV Uncertain significance 911520 8:143993371-143993371 8:142911955-142911955
29 LOC106799834 NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) SNV Uncertain significance 911712 8:143995789-143995789 8:142914373-142914373
30 LOC106799834 NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) SNV Uncertain significance 911712 8:143995789-143995789 8:142914373-142914373
31 LOC106799834 NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) SNV Uncertain significance 740402 rs148205451 8:143999248-143999248 8:142917832-142917832
32 LOC106799834 NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) SNV Uncertain significance 362222 rs375242946 8:143996580-143996580 8:142915164-142915164
33 LOC106799834 NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) SNV Uncertain significance 362213 rs144140791 8:143996246-143996246 8:142914830-142914830
34 LOC106799834 NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) SNV Uncertain significance 362199 rs746708275 8:143994783-143994783 8:142913367-142913367
35 LOC106799834 NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) SNV Uncertain significance 362227 rs200283987 8:143998614-143998614 8:142917198-142917198
36 LOC106799834 NM_000498.3(CYP11B2):c.*1047C>T SNV Uncertain significance 362174 rs886062739 8:143992349-143992349 8:142910933-142910933
37 LOC106799834 NM_000498.3(CYP11B2):c.*789G>A SNV Uncertain significance 362176 rs61763990 8:143992607-143992607 8:142911191-142911191
38 LOC106799834 NM_000498.3(CYP11B2):c.844C>T (p.Arg282Cys) SNV Uncertain significance 362209 rs774989997 8:143995790-143995790 8:142914374-142914374
39 LOC106799834 NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) SNV Uncertain significance 362224 rs199988205 8:143996633-143996633 8:142915217-142915217
40 LOC106799834 NM_000498.3(CYP11B2):c.*566C>T SNV Uncertain significance 362182 rs375938097 8:143992830-143992830 8:142911414-142911414
41 LOC106799834 NM_000498.3(CYP11B2):c.*579T>C SNV Uncertain significance 362181 rs559136479 8:143992817-143992817 8:142911401-142911401
42 LOC106799834 NM_000498.3(CYP11B2):c.595+15G>T SNV Uncertain significance 362216 rs886062743 8:143996447-143996447 8:142915031-142915031
43 LOC106799834 NM_000498.3(CYP11B2):c.*746G>A SNV Uncertain significance 362177 rs570202161 8:143992650-143992650 8:142911234-142911234
44 LOC106799834 NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) SNV Uncertain significance 362212 rs752962897 8:143996168-143996168 8:142914752-142914752
45 LOC106799834 NM_000498.3(CYP11B2):c.674A>G (p.His225Arg) SNV Uncertain significance 362213 rs144140791 8:143996246-143996246 8:142914830-142914830
46 LOC106799834 NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met) SNV Uncertain significance 362218 rs886062744 8:143996466-143996466 8:142915050-142915050
47 LOC106799834 NM_000498.3(CYP11B2):c.1039G>A (p.Ala347Thr) SNV Uncertain significance 362199 rs746708275 8:143994783-143994783 8:142913367-142913367
48 LOC106799834 NM_000498.3(CYP11B2):c.*743C>T SNV Uncertain significance 362179 rs886062741 8:143992653-143992653 8:142911237-142911237
49 LOC106799834 NM_000498.3(CYP11B2):c.*504C>T SNV Uncertain significance 362185 rs201487778 8:143992892-143992892 8:142911476-142911476
50 LOC106799834 NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) SNV Uncertain significance 362226 rs372556807 8:143998518-143998518 8:142917102-142917102

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....