CMD1II
MCID: CRD162
MIFTS: 23

Cardiomyopathy, Dilated, 1ii (CMD1II)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1ii

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ii:

Name: Cardiomyopathy, Dilated, 1ii 57 13 72
Dilated Cardiomyopathy 1ii 12 29 6
Cmd1ii 57 12 74
Cardiomyopathy, Dilated, Type 1ii 40
Cardiomyopathy, Dilated 1ii 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of disease after fourth decade of life


HPO:

32
cardiomyopathy, dilated, 1ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110450
MeSH 44 D002311
ICD10 33 I42.0
UMLS 72 C3554649

Summaries for Cardiomyopathy, Dilated, 1ii

UniProtKB/Swiss-Prot : 74 Cardiomyopathy, dilated 1II: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1ii, is also known as dilated cardiomyopathy 1ii. An important gene associated with Cardiomyopathy, Dilated, 1ii is CRYAB (Crystallin Alpha B). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and mitral regurgitation

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the CRYAB gene on chromosome 11q23.

More information from OMIM: 615184 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ii

Human phenotypes related to Cardiomyopathy, Dilated, 1ii:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 mitral regurgitation 32 HP:0001653

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
mitral regurgitation, mild
decreased ejection fraction
cardiomyopathy, dilated, mild
left ventricular dilation, mild
inverted t-waves in precordial leads on electrocardiography

Clinical features from OMIM:

615184

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1ii

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1ii

Genetic Tests for Cardiomyopathy, Dilated, 1ii

Genetic tests related to Cardiomyopathy, Dilated, 1ii:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1ii 29 CRYAB

Anatomical Context for Cardiomyopathy, Dilated, 1ii

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1ii:

41
Heart

Publications for Cardiomyopathy, Dilated, 1ii

Articles related to Cardiomyopathy, Dilated, 1ii:

# Title Authors PMID Year
1
alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands. 8 71
16793013 2006
2
Alpha B-crystallin mutation in dilated cardiomyopathy. 8 71
16483541 2006

Variations for Cardiomyopathy, Dilated, 1ii

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1ii:

6 (show all 37)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CRYAB NM_001885.3(CRYAB): c.343del (p.Ser115fs) deletion Pathogenic/Likely pathogenic rs281865142 11:111779673-111779673 11:111908949-111908949
2 CRYAB NM_001885.3(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 11:111779690-111779690 11:111908966-111908966
3 CRYAB NM_001885.3(CRYAB): c.324+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1057520897 11:111781048-111781048 11:111910324-111910324
4 CRYAB NM_001885.3(CRYAB): c.460G> A (p.Gly154Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150516929 11:111779556-111779556 11:111908832-111908832
5 CRYAB NM_001885.3(CRYAB): c.116C> T (p.Pro39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149787233 11:111782333-111782333 11:111911609-111911609
6 CRYAB NM_001885.3(CRYAB): c.325-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202024436 11:111779693-111779693 11:111908969-111908969
7 CRYAB NM_001885.3(CRYAB): c.152C> T (p.Pro51Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2234704 11:111782297-111782297 11:111911573-111911573
8 CRYAB NM_001885.3(CRYAB): c.324+4T> A single nucleotide variant Uncertain significance rs11603779 11:111781047-111781047 11:111910323-111910323
9 CRYAB NM_001885.3(CRYAB): c.301C> A (p.His101Asn) single nucleotide variant Uncertain significance 11:111781074-111781074 11:111910350-111910350
10 CRYAB NM_001885.3(CRYAB): c.31C> T (p.Arg11Cys) single nucleotide variant Uncertain significance rs781902168 11:111782418-111782418 11:111911694-111911694
11 CRYAB NM_001885.3(CRYAB): c.470G> A (p.Arg157His) single nucleotide variant Uncertain significance rs141638421 11:111779546-111779546 11:111908822-111908822
12 CRYAB NM_001885.3(CRYAB): c.367C> T (p.Arg123Trp) single nucleotide variant Uncertain significance rs534473091 11:111779649-111779649 11:111908925-111908925
13 CRYAB NM_001885.3(CRYAB): c.134G> A (p.Ser45Asn) single nucleotide variant Uncertain significance rs931730154 11:111782315-111782315 11:111911591-111911591
14 CRYAB NM_001885.3(CRYAB): c.406T> A (p.Ser136Thr) single nucleotide variant Uncertain significance rs371079119 11:111779610-111779610 11:111908886-111908886
15 CRYAB NM_001885.3(CRYAB): c.461G> A (p.Gly154Asp) single nucleotide variant Uncertain significance rs1555165228 11:111779555-111779555 11:111908831-111908831
16 CRYAB NM_001885.3(CRYAB): c.201+5G> C single nucleotide variant Uncertain significance rs1555165537 11:111782243-111782243 11:111911519-111911519
17 CRYAB NM_001885.3(CRYAB): c.40T> G (p.Phe14Val) single nucleotide variant Uncertain significance rs1555165595 11:111782409-111782409 11:111911685-111911685
18 CRYAB NM_001885.3(CRYAB): c.149G> A (p.Arg50Gln) single nucleotide variant Uncertain significance rs781846534 11:111782300-111782300 11:111911576-111911576
19 CRYAB NM_001885.3(CRYAB): c.47C> T (p.Pro16Leu) single nucleotide variant Uncertain significance 11:111782402-111782402 11:111911678-111911678
20 CRYAB NM_001885.3(CRYAB): c.205C> T (p.Arg69Cys) single nucleotide variant Uncertain significance 11:111781170-111781170 11:111910446-111910446
21 CRYAB NM_001885.3(CRYAB): c.115C> G (p.Pro39Ala) single nucleotide variant Uncertain significance 11:111782334-111782334 11:111911610-111911610
22 CRYAB NM_001885.3(CRYAB): c.65G> A (p.Arg22His) single nucleotide variant Uncertain significance 11:111782384-111782384 11:111911660-111911660
23 CRYAB NM_001885.3(CRYAB): c.116C> A (p.Pro39Gln) single nucleotide variant Uncertain significance 11:111782333-111782333 11:111911609-111911609
24 CRYAB NM_001885.3(CRYAB): c.469C> T (p.Arg157Cys) single nucleotide variant Uncertain significance 11:111779547-111779547 11:111908823-111908823
25 CRYAB NM_001885.3(CRYAB): c.287A> G (p.Asp96Gly) single nucleotide variant Uncertain significance 11:111781088-111781088 11:111910364-111910364
26 CRYAB NM_001885.3(CRYAB): c.275A> G (p.Lys92Arg) single nucleotide variant Uncertain significance 11:111781100-111781100 11:111910376-111910376
27 CRYAB NM_001885.3(CRYAB): c.119C> T (p.Thr40Met) single nucleotide variant Uncertain significance 11:111782330-111782330 11:111911606-111911606
28 CRYAB NM_001885.3(CRYAB): c.115C> T (p.Pro39Ser) single nucleotide variant Uncertain significance 11:111782334-111782334 11:111911610-111911610
29 CRYAB NC_000011.9: g.(?_111779478)_(111782458_?)dup duplication Uncertain significance 11:111779478-111782458 11:111908754-111911734
30 CRYAB NM_001885.3(CRYAB): c.510C> T (p.Thr170=) single nucleotide variant Likely benign rs147970333 11:111779506-111779506 11:111908782-111908782
31 CRYAB NM_001885.3(CRYAB): c.510C> A (p.Thr170=) single nucleotide variant Likely benign rs147970333 11:111779506-111779506 11:111908782-111908782
32 CRYAB NM_001885.3(CRYAB): c.219C> T (p.Asp73=) single nucleotide variant Likely benign rs1555165414 11:111781156-111781156 11:111910432-111910432
33 CRYAB NM_001885.3(CRYAB): c.120G> A (p.Thr40=) single nucleotide variant Likely benign rs374981255 11:111782329-111782329 11:111911605-111911605
34 CRYAB NM_001885.3(CRYAB): c.369G> T (p.Arg123=) single nucleotide variant Likely benign rs1274021536 11:111779647-111779647 11:111908923-111908923
35 CRYAB NM_001885.3(CRYAB): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs561116151 11:111781159-111781159 11:111910435-111910435
36 CRYAB NM_001885.3(CRYAB): c.60C> T (p.Pro20=) single nucleotide variant Benign rs4252582 11:111782389-111782389 11:111911665-111911665
37 CRYAB NM_001885.3(CRYAB): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2228387 11:111782284-111782284 11:111911560-111911560

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1ii:

74
# Symbol AA change Variation ID SNP ID
1 CRYAB p.Gly154Ser VAR_070035 rs150516929
2 CRYAB p.Arg157His VAR_070036 rs141638421

Expression for Cardiomyopathy, Dilated, 1ii

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1ii.

Pathways for Cardiomyopathy, Dilated, 1ii

GO Terms for Cardiomyopathy, Dilated, 1ii

Sources for Cardiomyopathy, Dilated, 1ii

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