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

MCID: CRD222 MIFTS: 21	Cardiomyopathy, Familial Hypertrophic, 26 Categories: Genetic diseases, Cardiovascular diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Download 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 ⁵⁷ ²⁹ ⁶

Cmh26 ⁵⁷ ¹² ⁷⁵

Cardiomyopathy, Familial Restrictive 5 ⁵⁷ ⁷⁵

Cardiomyopathy, Familial Hypertrophic 26 ⁷⁵

Cardiomyopathy Familial Hypertrophic 26 ¹²

Cardiomyopathy, Familial Restrictive, 5 ⁶

Hypertrophic Cardiomyopathy 26 ¹²

Rcm5 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
some affected individuals are asymptomatic

HPO:

³²

cardiomyopathy, familial hypertrophic, 26:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617047

Disease Ontology ¹² DOID:0110327

MedGen ⁴² C4310749 CN237810 CN237821

MeSH ⁴⁴ D024741 D002313

SNOMED-CT via HPO ⁶⁹ 263681008 42343007 84114007 more

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Summaries for Cardiomyopathy, Familial Hypertrophic, 26

UniProtKB/Swiss-Prot : ⁷⁵ 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 congestive heart failure and mitral regurgitation

Disease Ontology : ¹² A 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, 19
Cardiomyopathy, Familial Hypertrophic, 20	Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Familial Hypertrophic, 26	Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 26

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
heart failure
left atrial enlargement (in some patients)
biatrial enlargement (in some patients)
mitral regurgitation (in some patients)
atrial fibrillation (in some patients)
more

Respiratory Lung:
dyspnea

Cardiovascular Vascular:
pulmonary hypertension (in some patients)

Clinical features from OMIM:

617047

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 26:

³²

#	Description	HPO Frequency	HPO Source Accession
1	congestive heart failure ³²		HP:0001635
2	mitral regurgitation ³²	occasional (7.5%)	HP:0001653
3	dyspnea ³²		HP:0002094
4	atrial fibrillation ³²	occasional (7.5%)	HP:0005110

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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 ²⁹	FLNC

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 26

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

⁴¹

Heart

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Publications for Cardiomyopathy, Familial Hypertrophic, 26

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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	1356.37	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	25351925

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Variations for Cardiomyopathy, Familial Hypertrophic, 26

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

⁷⁵

#	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 1062)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FLNC	NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201905890	GRCh37	Chromosome 7, 128480652: 128480652
2	FLNC	NM_001458.4(FLNC): c.1600G> A (p.Glu534Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201905890	GRCh38	Chromosome 7, 128840598: 128840598
3	FLNC	NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln)	single nucleotide variant	Benign	rs34932223	GRCh37	Chromosome 7, 128480629: 128480629
4	FLNC	NM_001458.4(FLNC): c.1577G> A (p.Arg526Gln)	single nucleotide variant	Benign	rs34932223	GRCh38	Chromosome 7, 128840575: 128840575
5	FLNC	NM_001458.4(FLNC): c.1698C> T (p.Ser566=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112194548	GRCh37	Chromosome 7, 128480909: 128480909
6	FLNC	NM_001458.4(FLNC): c.1698C> T (p.Ser566=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs112194548	GRCh38	Chromosome 7, 128840855: 128840855
7	FLNC	NM_001458.4(FLNC): c.1902G> A (p.Glu634=)	single nucleotide variant	Benign	rs12536635	GRCh37	Chromosome 7, 128481312: 128481312
8	FLNC	NM_001458.4(FLNC): c.1902G> A (p.Glu634=)	single nucleotide variant	Benign	rs12536635	GRCh38	Chromosome 7, 128841258: 128841258
9	FLNC	NM_001458.4(FLNC): c.2008-7C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs767576240	GRCh37	Chromosome 7, 128481501: 128481501
10	FLNC	NM_001458.4(FLNC): c.2008-7C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs767576240	GRCh38	Chromosome 7, 128841447: 128841447
11	FLNC	NM_001458.4(FLNC): c.597C> T (p.Ala199=)	single nucleotide variant	Benign/Likely benign	rs143942649	GRCh37	Chromosome 7, 128475624: 128475624
12	FLNC	NM_001458.4(FLNC): c.597C> T (p.Ala199=)	single nucleotide variant	Benign/Likely benign	rs143942649	GRCh38	Chromosome 7, 128835570: 128835570
13	FLNC	NM_001458.4(FLNC): c.3054C> T (p.Gly1018=)	single nucleotide variant	Uncertain significance	rs769624093	GRCh37	Chromosome 7, 128484182: 128484182
14	FLNC	NM_001458.4(FLNC): c.3054C> T (p.Gly1018=)	single nucleotide variant	Uncertain significance	rs769624093	GRCh38	Chromosome 7, 128844128: 128844128
15	FLNC	NM_001458.4(FLNC): c.3243G> A (p.Ala1081=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs534482249	GRCh37	Chromosome 7, 128484762: 128484762
16	FLNC	NM_001458.4(FLNC): c.3243G> A (p.Ala1081=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs534482249	GRCh38	Chromosome 7, 128844708: 128844708
17	FLNC	NM_001458.4(FLNC): c.3966C> T (p.Gly1322=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200237564	GRCh37	Chromosome 7, 128486356: 128486356
18	FLNC	NM_001458.4(FLNC): c.3966C> T (p.Gly1322=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200237564	GRCh38	Chromosome 7, 128846302: 128846302
19	FLNC	NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149641783	GRCh37	Chromosome 7, 128486412: 128486412
20	FLNC	NM_001458.4(FLNC): c.4022G> A (p.Arg1341Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs149641783	GRCh38	Chromosome 7, 128846358: 128846358
21	FLNC	NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201635205	GRCh37	Chromosome 7, 128488095: 128488095
22	FLNC	NM_001458.4(FLNC): c.4553A> G (p.Lys1518Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201635205	GRCh38	Chromosome 7, 128848041: 128848041
23	FLNC	NM_001458.4(FLNC): c.4737+9_4737+10delCT	deletion	Benign	rs794727437	GRCh37	Chromosome 7, 128488780: 128488781
24	FLNC	NM_001458.4(FLNC): c.4737+9_4737+10delCT	deletion	Benign	rs794727437	GRCh38	Chromosome 7, 128848726: 128848727
25	FLNC	NM_001458.4(FLNC): c.4928-7T> C	single nucleotide variant	Benign	rs201957008	GRCh37	Chromosome 7, 128489228: 128489228
26	FLNC	NM_001458.4(FLNC): c.4928-7T> C	single nucleotide variant	Benign	rs201957008	GRCh38	Chromosome 7, 128849174: 128849174
27	FLNC	NM_001458.4(FLNC): c.5042C> G (p.Thr1681Arg)	single nucleotide variant	Benign/Likely benign	rs193159707	GRCh37	Chromosome 7, 128489475: 128489475
28	FLNC	NM_001458.4(FLNC): c.5042C> G (p.Thr1681Arg)	single nucleotide variant	Benign/Likely benign	rs193159707	GRCh38	Chromosome 7, 128849421: 128849421
29	FLNC	NM_001458.4(FLNC): c.5375C> T (p.Ala1792Val)	single nucleotide variant	Uncertain significance	rs200233856	GRCh37	Chromosome 7, 128490514: 128490514
30	FLNC	NM_001458.4(FLNC): c.5375C> T (p.Ala1792Val)	single nucleotide variant	Uncertain significance	rs200233856	GRCh38	Chromosome 7, 128850460: 128850460
31	FLNC	NM_001458.4(FLNC): c.5578C> T (p.Arg1860Cys)	single nucleotide variant	Benign	rs181067717	GRCh37	Chromosome 7, 128491324: 128491324
32	FLNC	NM_001458.4(FLNC): c.5578C> T (p.Arg1860Cys)	single nucleotide variant	Benign	rs181067717	GRCh38	Chromosome 7, 128851270: 128851270
33	FLNC	NM_001458.4(FLNC): c.6005-9T> C	single nucleotide variant	Benign	rs118124743	GRCh37	Chromosome 7, 128492873: 128492873
34	FLNC	NM_001458.4(FLNC): c.6005-9T> C	single nucleotide variant	Benign	rs118124743	GRCh38	Chromosome 7, 128852819: 128852819
35	FLNC	NM_001458.4(FLNC): c.6309C> T (p.Thr2103=)	single nucleotide variant	Benign/Likely benign	rs376992044	GRCh37	Chromosome 7, 128493623: 128493623
36	FLNC	NM_001458.4(FLNC): c.6309C> T (p.Thr2103=)	single nucleotide variant	Benign/Likely benign	rs376992044	GRCh38	Chromosome 7, 128853569: 128853569
37	FLNC	NM_001458.4(FLNC): c.6441C> T (p.Ile2147=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs762017885	GRCh37	Chromosome 7, 128493848: 128493848
38	FLNC	NM_001458.4(FLNC): c.6441C> T (p.Ile2147=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs762017885	GRCh38	Chromosome 7, 128853794: 128853794
39	FLNC	NM_001458.4(FLNC): c.6459C> T (p.Thr2153=)	single nucleotide variant	Benign	rs113618587	GRCh37	Chromosome 7, 128493866: 128493866
40	FLNC	NM_001458.4(FLNC): c.6459C> T (p.Thr2153=)	single nucleotide variant	Benign	rs113618587	GRCh38	Chromosome 7, 128853812: 128853812
41	FLNC	NM_001458.4(FLNC): c.7091G> A (p.Arg2364His)	single nucleotide variant	Benign/Likely benign	rs201672146	GRCh37	Chromosome 7, 128494922: 128494922
42	FLNC	NM_001458.4(FLNC): c.7091G> A (p.Arg2364His)	single nucleotide variant	Benign/Likely benign	rs201672146	GRCh38	Chromosome 7, 128854868: 128854868
43	FLNC	NM_001458.4(FLNC): c.6998-5C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139030003	GRCh37	Chromosome 7, 128494824: 128494824
44	FLNC	NM_001458.4(FLNC): c.6998-5C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs139030003	GRCh38	Chromosome 7, 128854770: 128854770
45	FLNC	NM_001458.4(FLNC): c.7289C> T (p.Ala2430Val)	single nucleotide variant	Uncertain significance	rs200516164	GRCh37	Chromosome 7, 128496609: 128496609
46	FLNC	NM_001458.4(FLNC): c.7289C> T (p.Ala2430Val)	single nucleotide variant	Uncertain significance	rs200516164	GRCh38	Chromosome 7, 128856555: 128856555
47	FLNC	NM_001458.4(FLNC): c.7862G> A (p.Arg2621Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201636548	GRCh37	Chromosome 7, 128498143: 128498143
48	FLNC	NM_001458.4(FLNC): c.7862G> A (p.Arg2621Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs201636548	GRCh38	Chromosome 7, 128858089: 128858089
49	FLNC	NM_001458.4(FLNC): c.8003T> C (p.Met2668Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200502811	GRCh38	Chromosome 7, 128858348: 128858348
50	FLNC	NM_001458.4(FLNC): c.8003T> C (p.Met2668Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200502811	GRCh37	Chromosome 7, 128498402: 128498402

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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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