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 56 13 71
Dilated Cardiomyopathy 1ii 12 29 6
Cmd1ii 56 12 73
Cardiomyopathy, Dilated, Type 1ii 39
Cardiomyopathy, Dilated 1ii 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset of disease after fourth decade of life


HPO:

31
cardiomyopathy, dilated, 1ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110450
OMIM 56 615184
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 32 I42.0
UMLS 71 C3554649

Summaries for Cardiomyopathy, Dilated, 1ii

UniProtKB/Swiss-Prot : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644
2 mitral regurgitation 31 HP:0001653

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 6 56
16793013 2006
2
Alpha B-crystallin mutation in dilated cardiomyopathy. 6 56
16483541 2006

Variations for Cardiomyopathy, Dilated, 1ii

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

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRYAB NM_001289808.2(CRYAB):c.343del (p.Ser115fs)deletion Pathogenic/Likely pathogenic 38963 rs281865142 11:111779673-111779673 11:111908949-111908949
2 CRYAB NM_001289808.2(CRYAB):c.32G>A (p.Arg11His)SNV Likely pathogenic 870393 11:111782417-111782417 11:111911693-111911693
3 CRYAB NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly)SNV Likely pathogenic 265829 rs1114167341 11:111779690-111779690 11:111908966-111908966
4 CRYAB NM_001289808.2(CRYAB):c.324+3A>GSNV Conflicting interpretations of pathogenicity 380736 rs1057520897 11:111781048-111781048 11:111910324-111910324
5 CRYAB NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)SNV Conflicting interpretations of pathogenicity 178013 rs149787233 11:111782333-111782333 11:111911609-111911609
6 CRYAB NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)SNV Conflicting interpretations of pathogenicity 41926 rs150516929 11:111779556-111779556 11:111908832-111908832
7 CRYAB NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)SNV Conflicting interpretations of pathogenicity 44232 rs2234704 11:111782297-111782297 11:111911573-111911573
8 CRYAB NM_001289808.2(CRYAB):c.325-2A>GSNV Conflicting interpretations of pathogenicity 44235 rs202024436 11:111779693-111779693 11:111908969-111908969
9 CRYAB NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)SNV Uncertain significance 41925 rs141638421 11:111779546-111779546 11:111908822-111908822
10 CRYAB NM_001289808.2(CRYAB):c.461G>A (p.Gly154Asp)SNV Uncertain significance 477735 rs1555165228 11:111779555-111779555 11:111908831-111908831
11 CRYAB NM_001289808.2(CRYAB):c.324+4T>ASNV Uncertain significance 411954 rs11603779 11:111781047-111781047 11:111910323-111910323
12 CRYAB NM_001289808.2(CRYAB):c.134G>A (p.Ser45Asn)SNV Uncertain significance 477731 rs931730154 11:111782315-111782315 11:111911591-111911591
13 CRYAB NM_001289808.2(CRYAB):c.406T>A (p.Ser136Thr)SNV Uncertain significance 477734 rs371079119 11:111779610-111779610 11:111908886-111908886
14 CRYAB NC_000011.10:g.(?_111908754)_(111908977_?)deldeletion Uncertain significance 830695 11:111779478-111779701
15 CRYAB NM_001289808.2(CRYAB):c.277G>T (p.Val93Leu)SNV Uncertain significance 854963 11:111781098-111781098 11:111910374-111910374
16 CRYAB NM_001289808.2(CRYAB):c.522G>T (p.Lys174Asn)SNV Uncertain significance 863037 11:111779494-111779494 11:111908770-111908770
17 CRYAB NM_001289808.2(CRYAB):c.247C>G (p.His83Asp)SNV Uncertain significance 855579 11:111781128-111781128 11:111910404-111910404
18 CRYAB NM_001289808.2(CRYAB):c.206G>T (p.Arg69Leu)SNV Uncertain significance 848591 11:111781169-111781169 11:111910445-111910445
19 CRYAB NM_001289808.2(CRYAB):c.112T>C (p.Phe38Leu)SNV Uncertain significance 843625 11:111782337-111782337 11:111911613-111911613
20 CRYAB NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg)SNV Uncertain significance 839870 11:111782364-111782364 11:111911640-111911640
21 CRYAB NM_001289808.2(CRYAB):c.201+5G>CSNV Uncertain significance 544023 rs1555165537 11:111782243-111782243 11:111911519-111911519
22 CRYAB NM_001289808.2(CRYAB):c.40T>G (p.Phe14Val)SNV Uncertain significance 544022 rs1555165595 11:111782409-111782409 11:111911685-111911685
23 CRYAB NM_001289808.2(CRYAB):c.301C>A (p.His101Asn)SNV Uncertain significance 579144 rs1029108489 11:111781074-111781074 11:111910350-111910350
24 CRYAB NM_001289808.2(CRYAB):c.47C>T (p.Pro16Leu)SNV Uncertain significance 578197 rs868946460 11:111782402-111782402 11:111911678-111911678
25 CRYAB NM_001289808.2(CRYAB):c.205C>T (p.Arg69Cys)SNV Uncertain significance 570808 rs139750142 11:111781170-111781170 11:111910446-111910446
26 CRYAB NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)SNV Uncertain significance 571646 rs145768025 11:111782334-111782334 11:111911610-111911610
27 CRYAB NM_001289808.2(CRYAB):c.65G>A (p.Arg22His)SNV Uncertain significance 569482 rs782316391 11:111782384-111782384 11:111911660-111911660
28 CRYAB NM_001289808.2(CRYAB):c.116C>A (p.Pro39Gln)SNV Uncertain significance 566247 rs149787233 11:111782333-111782333 11:111911609-111911609
29 CRYAB NM_001289808.2(CRYAB):c.469C>T (p.Arg157Cys)SNV Uncertain significance 641068 11:111779547-111779547 11:111908823-111908823
30 CRYAB NM_001289808.2(CRYAB):c.287A>G (p.Asp96Gly)SNV Uncertain significance 662761 11:111781088-111781088 11:111910364-111910364
31 CRYAB NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg)SNV Uncertain significance 643345 11:111781100-111781100 11:111910376-111910376
32 CRYAB NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met)SNV Uncertain significance 657757 11:111782330-111782330 11:111911606-111911606
33 CRYAB NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)SNV Uncertain significance 657190 11:111782334-111782334 11:111911610-111911610
34 CRYAB NC_000011.9:g.(?_111779478)_(111782458_?)dupduplication Uncertain significance 642629 11:111779478-111782458 11:111908754-111911734
35 CRYAB NM_001289808.2(CRYAB):c.31C>T (p.Arg11Cys)SNV Uncertain significance 222531 rs781902168 11:111782418-111782418 11:111911694-111911694
36 CRYAB NM_001289808.2(CRYAB):c.149G>A (p.Arg50Gln)SNV Uncertain significance 281506 rs781846534 11:111782300-111782300 11:111911576-111911576
37 CRYAB NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)SNV Uncertain significance 393088 rs534473091 11:111779649-111779649 11:111908925-111908925
38 CRYAB NM_001289808.2(CRYAB):c.510C>T (p.Thr170=)SNV Likely benign 162998 rs147970333 11:111779506-111779506 11:111908782-111908782
39 CRYAB NM_001289808.2(CRYAB):c.174C>A (p.Pro58=)SNV Likely benign 696164 11:111782275-111782275 11:111911551-111911551
40 CRYAB NM_001289808.2(CRYAB):c.24C>T (p.Pro8=)SNV Likely benign 772639 11:111782425-111782425 11:111911701-111911701
41 CRYAB NM_001289808.2(CRYAB):c.120G>A (p.Thr40=)SNV Likely benign 477730 rs374981255 11:111782329-111782329 11:111911605-111911605
42 CRYAB NM_001289808.2(CRYAB):c.369G>T (p.Arg123=)SNV Likely benign 477733 rs1274021536 11:111779647-111779647 11:111908923-111908923
43 CRYAB NM_001289808.2(CRYAB):c.216G>A (p.Lys72=)SNV Likely benign 477732 rs561116151 11:111781159-111781159 11:111910435-111910435
44 CRYAB NM_001289808.2(CRYAB):c.9C>T (p.Ile3=)SNV Likely benign 514143 rs1555165618 11:111782440-111782440 11:111911716-111911716
45 CRYAB NM_001289808.2(CRYAB):c.510C>A (p.Thr170=)SNV Likely benign 544024 rs147970333 11:111779506-111779506 11:111908782-111908782
46 CRYAB NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)SNV Benign 44239 rs4252582 11:111782389-111782389 11:111911665-111911665
47 CRYAB NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)SNV Benign 44233 rs2228387 11:111782284-111782284 11:111911560-111911560

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

73
# 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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