CMH26
MCID: CRD222
MIFTS: 23

Cardiomyopathy, Familial Hypertrophic, 26 (CMH26)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 26

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 26:

Name: Cardiomyopathy, Familial Hypertrophic, 26 58 30 6
Cmh26 58 12 76
Cardiomyopathy, Familial Restrictive 5 58 76
Cardiomyopathy, Familial Hypertrophic 26 76
Cardiomyopathy Familial Hypertrophic 26 12
Cardiomyopathy, Familial Restrictive, 5 6
Hypertrophic Cardiomyopathy 26 12
Rcm5 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
some affected individuals are asymptomatic


HPO:

33
cardiomyopathy, familial hypertrophic, 26:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110327
OMIM 58 617047

Summaries for Cardiomyopathy, Familial Hypertrophic, 26

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, familial hypertrophic 26: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Cardiomyopathy, familial restrictive 5: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 26, is also known as cmh26. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 26 is FLNC (Filamin C). Affiliated tissues include heart, and related phenotypes are mitral regurgitation and atrial fibrillation

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the FLNC gene on chromosome 7q32.

Description from OMIM: 617047

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 26

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 26:

33
# Description HPO Frequency HPO Source Accession
1 mitral regurgitation 33 occasional (7.5%) HP:0001653
2 atrial fibrillation 33 occasional (7.5%) HP:0005110
3 left atrial enlargement 33 very rare (1%) HP:0031295
4 dyspnea 33 HP:0002094
5 congestive heart failure 33 HP:0001635

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
dyspnea

Cardiovascular Vascular:
pulmonary hypertension (in some patients)

Cardiovascular Heart:
interstitial fibrosis
atrial fibrillation (in some patients)
heart failure
myocyte hypertrophy
mitral regurgitation (in some patients)
more

Clinical features from OMIM:

617047

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 26

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 26

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 26

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 26:

# Genetic test Affiliating Genes
1 Cardiomyopathy, Familial Hypertrophic, 26 30 FLNC

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 26

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 26:

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 26

Articles related to Cardiomyopathy, Familial Hypertrophic, 26:

# Title Authors Year
1
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. ( 26666891 )
2016
2
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. ( 25351925 )
2014

Variations for Cardiomyopathy, Familial Hypertrophic, 26

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 26:

76
# Symbol AA change Variation ID SNP ID
1 FLNC p.Val123Ala VAR_077036
2 FLNC p.Ala1539Thr VAR_077038
3 FLNC p.Ser1624Leu VAR_077039 rs879255639
4 FLNC p.Arg2133His VAR_077040
5 FLNC p.Ile2160Phe VAR_077042 rs879255640

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 26:

6 (show top 50) (show all 1403)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNC NM_001458.4(FLNC): c.1374C> T (p.Pro458=) single nucleotide variant Benign rs115140972 GRCh37 Chromosome 7, 128478820: 128478820
2 FLNC NM_001458.4(FLNC): c.1374C> T (p.Pro458=) single nucleotide variant Benign rs115140972 GRCh38 Chromosome 7, 128838766: 128838766
3 FLNC NM_001458.4(FLNC): c.1614C> T (p.Tyr538=) single nucleotide variant Benign rs76046880 GRCh37 Chromosome 7, 128480666: 128480666
4 FLNC NM_001458.4(FLNC): c.1614C> T (p.Tyr538=) single nucleotide variant Benign rs76046880 GRCh38 Chromosome 7, 128840612: 128840612
5 FLNC NM_001458.4(FLNC): c.2501C> T (p.Thr834Met) single nucleotide variant Benign rs75133741 GRCh37 Chromosome 7, 128482959: 128482959
6 FLNC NM_001458.4(FLNC): c.2501C> T (p.Thr834Met) single nucleotide variant Benign rs75133741 GRCh38 Chromosome 7, 128842905: 128842905
7 FLNC NM_001458.4(FLNC): c.3624G> A (p.Ala1208=) single nucleotide variant Benign rs35281128 GRCh37 Chromosome 7, 128485143: 128485143
8 FLNC NM_001458.4(FLNC): c.3624G> A (p.Ala1208=) single nucleotide variant Benign rs35281128 GRCh38 Chromosome 7, 128845089: 128845089
9 FLNC NM_001458.4(FLNC): c.3757G> A (p.Val1253Ile) single nucleotide variant Benign rs117366477 GRCh37 Chromosome 7, 128485276: 128485276
10 FLNC NM_001458.4(FLNC): c.3757G> A (p.Val1253Ile) single nucleotide variant Benign rs117366477 GRCh38 Chromosome 7, 128845222: 128845222
11 FLNC NM_001458.4(FLNC): c.3838C> T (p.Leu1280=) single nucleotide variant Benign rs34180031 GRCh37 Chromosome 7, 128486091: 128486091
12 FLNC NM_001458.4(FLNC): c.3838C> T (p.Leu1280=) single nucleotide variant Benign rs34180031 GRCh38 Chromosome 7, 128846037: 128846037
13 FLNC NM_001458.4(FLNC): c.5592C> T (p.Ala1864=) single nucleotide variant Benign rs117517372 GRCh37 Chromosome 7, 128491338: 128491338
14 FLNC NM_001458.4(FLNC): c.5592C> T (p.Ala1864=) single nucleotide variant Benign rs117517372 GRCh38 Chromosome 7, 128851284: 128851284
15 FLNC NM_001458.4(FLNC): c.6771A> G (p.Pro2257=) single nucleotide variant Benign rs34422412 GRCh37 Chromosome 7, 128494510: 128494510
16 FLNC NM_001458.4(FLNC): c.6771A> G (p.Pro2257=) single nucleotide variant Benign rs34422412 GRCh38 Chromosome 7, 128854456: 128854456
17 FLNC NM_001458.4(FLNC): c.7780+10A> G single nucleotide variant Benign/Likely benign rs201149834 GRCh37 Chromosome 7, 128497400: 128497400
18 FLNC NM_001458.4(FLNC): c.7780+10A> G single nucleotide variant Benign/Likely benign rs201149834 GRCh38 Chromosome 7, 128857346: 128857346
19 FLNC NM_001458.4(FLNC): c.8118C> T (p.Leu2706=) single nucleotide variant Benign rs28379666 GRCh37 Chromosome 7, 128498517: 128498517
20 FLNC NM_001458.4(FLNC): c.8118C> T (p.Leu2706=) single nucleotide variant Benign rs28379666 GRCh38 Chromosome 7, 128858463: 128858463
21 FLNC NM_001458.4(FLNC): c.8121T> C (p.Ile2707=) single nucleotide variant Benign rs28437296 GRCh37 Chromosome 7, 128498520: 128498520
22 FLNC NM_001458.4(FLNC): c.8121T> C (p.Ile2707=) single nucleotide variant Benign rs28437296 GRCh38 Chromosome 7, 128858466: 128858466
23 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh37 Chromosome 7, 128480652: 128480652
24 FLNC NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201905890 GRCh38 Chromosome 7, 128840598: 128840598
25 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh37 Chromosome 7, 128480629: 128480629
26 FLNC NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs34932223 GRCh38 Chromosome 7, 128840575: 128840575
27 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh37 Chromosome 7, 128480909: 128480909
28 FLNC NM_001458.4(FLNC): c.1698C> T (p.Ser566=) single nucleotide variant Conflicting interpretations of pathogenicity rs112194548 GRCh38 Chromosome 7, 128840855: 128840855
29 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh37 Chromosome 7, 128481312: 128481312
30 FLNC NM_001458.4(FLNC): c.1902G> A (p.Glu634=) single nucleotide variant Benign rs12536635 GRCh38 Chromosome 7, 128841258: 128841258
31 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh37 Chromosome 7, 128481501: 128481501
32 FLNC NM_001458.4(FLNC): c.2008-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs767576240 GRCh38 Chromosome 7, 128841447: 128841447
33 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh37 Chromosome 7, 128475624: 128475624
34 FLNC NM_001458.4(FLNC): c.597C> T (p.Ala199=) single nucleotide variant Benign/Likely benign rs143942649 GRCh38 Chromosome 7, 128835570: 128835570
35 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh37 Chromosome 7, 128484182: 128484182
36 FLNC NM_001458.4(FLNC): c.3054C> T (p.Gly1018=) single nucleotide variant Uncertain significance rs769624093 GRCh38 Chromosome 7, 128844128: 128844128
37 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh37 Chromosome 7, 128484762: 128484762
38 FLNC NM_001458.4(FLNC): c.3243G> A (p.Ala1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs534482249 GRCh38 Chromosome 7, 128844708: 128844708
39 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh37 Chromosome 7, 128486356: 128486356
40 FLNC NM_001458.4(FLNC): c.3966C> T (p.Gly1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs200237564 GRCh38 Chromosome 7, 128846302: 128846302
41 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh37 Chromosome 7, 128486412: 128486412
42 FLNC NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149641783 GRCh38 Chromosome 7, 128846358: 128846358
43 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh37 Chromosome 7, 128488095: 128488095
44 FLNC NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201635205 GRCh38 Chromosome 7, 128848041: 128848041
45 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh37 Chromosome 7, 128488780: 128488781
46 FLNC NM_001458.4(FLNC): c.4737+9_4737+10delCT deletion Benign rs794727437 GRCh38 Chromosome 7, 128848726: 128848727
47 FLNC NM_001458.4(FLNC): c.4928-7T> C single nucleotide variant Benign rs201957008 GRCh37 Chromosome 7, 128489228: 128489228
48 FLNC NM_001458.4(FLNC): c.4928-7T> C single nucleotide variant Benign rs201957008 GRCh38 Chromosome 7, 128849174: 128849174
49 FLNC NM_001458.4(FLNC): c.5042C> G (p.Thr1681Arg) single nucleotide variant Benign/Likely benign rs193159707 GRCh37 Chromosome 7, 128489475: 128489475
50 FLNC NM_001458.4(FLNC): c.5042C> G (p.Thr1681Arg) single nucleotide variant Benign/Likely benign rs193159707 GRCh38 Chromosome 7, 128849421: 128849421

Expression for Cardiomyopathy, Familial Hypertrophic, 26

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 26.

Pathways for Cardiomyopathy, Familial Hypertrophic, 26

GO Terms for Cardiomyopathy, Familial Hypertrophic, 26

Sources for Cardiomyopathy, Familial Hypertrophic, 26

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