Cardiomyopathy, Familial Hypertrophic, 26 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH26 MCID: CRD222 MIFTS: 23	Cardiomyopathy, Familial Hypertrophic, 26 (CMH26) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110327

OMIM ⁵⁸ 617047

MeSH ⁴⁵ D002313 D024741

MedGen ⁴³ C4310749 CN237810 CN237821

SNOMED-CT via HPO ⁷⁰ 230145002 263681008 267036007 more

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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

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 26

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2	Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4	Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic	Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25	Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10	Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12	Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14	Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7	Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16	Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18	Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21	Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

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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

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 26

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

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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

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 26

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

⁴²

Heart

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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 )	Brodehl A...Gerull B	2016
2	Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. ( 25351925 )	Vald?s-Mas R...L?pez-Ot?n C	2014

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Genes for Cardiomyopathy, Familial Hypertrophic, 26

Genes related to Cardiomyopathy, Familial Hypertrophic, 26 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FLNC	Filamin C	Protein Coding	1331.81	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	25351925 26666891
2	FLNC-AS1	FLNC Antisense RNA 1	RNA Gene	10.35	GeneCards inferred via : Variants (show sections)

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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

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Expression for Cardiomyopathy, Familial Hypertrophic, 26

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

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Pathways for Cardiomyopathy, Familial Hypertrophic, 26

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GO Terms for Cardiomyopathy, Familial Hypertrophic, 26

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Sources for Cardiomyopathy, Familial Hypertrophic, 26

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⁷⁷ Wikipedia

Cardiomyopathy, Familial Hypertrophic, 26 (CMH26)

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 26

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 26:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cardiomyopathy, Familial Hypertrophic, 26

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 26

Diseases in the Hypertrophic Cardiomyopathy family:

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 26

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 26:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 26

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 26

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 26:

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 26

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

Publications for Cardiomyopathy, Familial Hypertrophic, 26

Articles related to Cardiomyopathy, Familial Hypertrophic, 26:

Genes for Cardiomyopathy, Familial Hypertrophic, 26

Genes related to Cardiomyopathy, Familial Hypertrophic, 26 (1 elite genes):

Variations for Cardiomyopathy, Familial Hypertrophic, 26

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

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

Expression for Cardiomyopathy, Familial Hypertrophic, 26

Pathways for Cardiomyopathy, Familial Hypertrophic, 26

GO Terms for Cardiomyopathy, Familial Hypertrophic, 26

Sources for Cardiomyopathy, Familial Hypertrophic, 26