CMH26
MCID: CRD222
MIFTS: 37

Cardiomyopathy, Familial Hypertrophic, 26 (CMH26)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

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 72
Cardiomyopathy, Familial Restrictive, 5 29 6
Cardiomyopathy, Familial Restrictive 5 57 72
Hypertrophic Cardiomyopathy 26 12 15
Cardiomyopathy, Familial Hypertrophic 26 72
Cardiomyopathy Familial Hypertrophic 26 12
Rcm5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
some affected individuals are asymptomatic


HPO:

31
cardiomyopathy, familial hypertrophic, 26:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110327
OMIM® 57 617047
OMIM Phenotypic Series 57 PS115210 PS192600

Summaries for Cardiomyopathy, Familial Hypertrophic, 26

UniProtKB/Swiss-Prot : 72 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, also known as cmh26, is related to hemifacial hyperplasia and myopathy, distal, 4. 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.

More information from OMIM: 617047 PS115210 PS192600

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
Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Cardiomyopathy, Familial Hypertrophic, 26 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 hemifacial hyperplasia 10.1 FLNC-AS1 FLNC
2 myopathy, distal, 4 10.1 FLNC-AS1 FLNC
3 myopathy, myofibrillar, 5 10.1 FLNC-AS1 FLNC
4 mitochondrial dna depletion syndrome 12b 10.0 RBM20 FLNC
5 progressive familial heart block 10.0 FLNC-AS1 FLNC
6 myopathy, spheroid body 10.0 NEBL FLNC
7 congenital structural myopathy 10.0 NEBL FLNC
8 intrinsic cardiomyopathy 10.0 RBM20 FLNC
9 myofibrillar myopathy 9.9 FLNC-AS1 FLNC
10 cardiomyopathy, dilated, 1b 9.9 RBM20 FLNC-AS1 FLNC
11 patent foramen ovale 9.8 FLNC-AS1 FLNC
12 cardiomyopathy, dilated, 1e 9.8 TNNC1 RBM20
13 cardiomyopathy, familial hypertrophic, 1 9.7 TNNC1 FLNC-AS1 FLNC
14 restrictive cardiomyopathy 9.6 TNNC1 RBM20 FLNC-AS1 FLNC
15 left ventricular noncompaction 9.5 TNNC1 RBM20 NEBL FLNC
16 hypertrophic cardiomyopathy 9.3 TNNC1 RBM20 NEBL FLNC-AS1 FLNC
17 dilated cardiomyopathy 9.3 TNNC1 RBM20 NEBL FLNC-AS1 FLNC

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 26:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 26

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 26

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 26:

31
# Description HPO Frequency HPO Source Accession
1 mitral regurgitation 31 occasional (7.5%) HP:0001653
2 atrial fibrillation 31 occasional (7.5%) HP:0005110
3 left atrial enlargement 31 very rare (1%) HP:0031295
4 congestive heart failure 31 HP:0001635
5 dyspnea 31 HP:0002094

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 FLNC
2 Cardiomyopathy, Familial Restrictive, 5 29

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 26

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

40
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 26

Articles related to Cardiomyopathy, Familial Hypertrophic, 26:

(show all 19)
# Title Authors PMID Year
1
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. 57 6
26666891 2016
2
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. 57 6
25351925 2014
3
Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures. 6
30067491 2018
4
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. 6
28436997 2017
5
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 6
27908349 2016
6
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C. 6
27601210 2016
7
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. 6
28008423 2016
8
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. 6
26969713 2016
9
Myofibrillar instability exacerbated by acute exercise in filaminopathy. 6
26472074 2015
10
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 6
26436962 2015
11
Prioritizing causal disease genes using unbiased genomic features. 6
25633252 2014
12
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy. 6
25179549 2014
13
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. 6
22961544 2012
14
LOVD v.2.0: the next generation in gene variant databases. 6
21520333 2011
15
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. 6
15929027 2005
16
Noninvasive indexes of left atrial diastolic function in hypertrophic cardiomyopathy. 61
10980083 2000
17
Resting echocardiographic features of latent left ventricular outflow obstruction in hypertrophic cardiomyopathy. 61
8831401 1996
18
Apical hypertrophic cardiomyopathy: clinical follow-up and diagnostic correlates. 61
2295747 1990
19
[Causes of sudden death in athletes]. 61
2510685 1989

Variations for Cardiomyopathy, Familial Hypertrophic, 26

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

6 (show top 50) (show all 1622)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNC NM_001458.4(FLNC):c.368T>C (p.Val123Ala) SNV Pathogenic 253125 rs1562991002 GRCh37: 7:128475395-128475395
GRCh38: 7:128835341-128835341
2 FLNC NM_001458.4(FLNC):c.4615G>A (p.Ala1539Thr) SNV Pathogenic 253123 rs1562999443 GRCh37: 7:128488649-128488649
GRCh38: 7:128848595-128848595
3 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.6943C>A (p.His2315Asn) SNV Pathogenic 253124 rs1563003848 GRCh37: 7:128494682-128494682
GRCh38: 7:128854628-128854628
4 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.6478A>T (p.Ile2160Phe) SNV Pathogenic 253127 rs879255640 GRCh37: 7:128493885-128493885
GRCh38: 7:128853831-128853831
5 FLNC NC_000007.14:g.128845989del Deletion Pathogenic 931563 GRCh37: 7:128486043-128486043
GRCh38: 7:128845989-128845989
6 FLNC NM_001458.4(FLNC):c.4716del (p.Leu1573fs) Deletion Pathogenic 478127 rs1554400021 GRCh37: 7:128488747-128488747
GRCh38: 7:128848693-128848693
7 FLNC NM_001458.4(FLNC):c.774del (p.Lys259fs) Deletion Pathogenic 478133 rs1554397506 GRCh37: 7:128477523-128477523
GRCh38: 7:128837469-128837469
8 FLNC NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) SNV Pathogenic 427928 rs1114167361 GRCh37: 7:128485076-128485076
GRCh38: 7:128845022-128845022
9 FLNC NM_001458.4(FLNC):c.2390-10_2406del Deletion Pathogenic 478125 rs1554398674 GRCh37: 7:128482836-128482862
GRCh38: 7:128842782-128842808
10 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.7294C>T (p.Gln2432Ter) SNV Pathogenic 478131 rs1554401756 GRCh37: 7:128496614-128496614
GRCh38: 7:128856560-128856560
11 FLNC NM_001458.4(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) Insertion Pathogenic 478128 rs1402879259 GRCh37: 7:128489028-128489029
GRCh38: 7:128848974-128848975
12 FLNC NM_001458.4(FLNC):c.1519_1525del (p.Gly507fs) Deletion Pathogenic 478121 rs1554398092 GRCh37: 7:128480181-128480187
GRCh38: 7:128840127-128840133
13 FLNC NM_001458.4(FLNC):c.3934_3937dup (p.Arg1313fs) Duplication Pathogenic 478126 rs1554399513 GRCh37: 7:128486183-128486184
GRCh38: 7:128846129-128846130
14 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.6976C>T (p.Arg2326Ter) SNV Pathogenic 478129 rs748416758 GRCh37: 7:128494715-128494715
GRCh38: 7:128854661-128854661
15 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.7371del (p.Glu2458fs) Deletion Pathogenic 478132 rs1554401780 GRCh37: 7:128496691-128496691
GRCh38: 7:128856637-128856637
16 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.7496_7497insTGCT (p.Gln2499fs) Insertion Pathogenic 539334 rs1554401830 GRCh37: 7:128496910-128496911
GRCh38: 7:128856856-128856857
17 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.7251+1G>A SNV Pathogenic 539340 rs1554401581 GRCh37: 7:128495369-128495369
GRCh38: 7:128855315-128855315
18 FLNC NM_001458.4(FLNC):c.5165del (p.Gly1722fs) Deletion Pathogenic 539390 rs1554400242 GRCh37: 7:128489594-128489594
GRCh38: 7:128849540-128849540
19 FLNC NM_001458.4(FLNC):c.805C>T (p.Arg269Ter) SNV Pathogenic 539411 rs755583250 GRCh37: 7:128477557-128477557
GRCh38: 7:128837503-128837503
20 FLNC NM_001458.4(FLNC):c.1605C>A (p.Cys535Ter) SNV Pathogenic 539354 rs199976790 GRCh37: 7:128480657-128480657
GRCh38: 7:128840603-128840603
21 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.7536_7548del (p.Pro2513fs) Deletion Pathogenic 539437 rs1554401837 GRCh37: 7:128496949-128496961
GRCh38: 7:128856895-128856907
22 FLNC NM_001458.4(FLNC):c.444G>A (p.Trp148Ter) SNV Pathogenic 539439 rs1554397197 GRCh37: 7:128475471-128475471
GRCh38: 7:128835417-128835417
23 FLNC NM_001458.4(FLNC):c.2065G>T (p.Glu689Ter) SNV Pathogenic 539448 rs1446694237 GRCh37: 7:128481565-128481565
GRCh38: 7:128841511-128841511
24 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.5697dup (p.Ser1900fs) Duplication Pathogenic 539446 rs1554400700 GRCh37: 7:128491536-128491537
GRCh38: 7:128851482-128851483
25 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.5672delG Deletion Pathogenic 567017 rs1563001548 GRCh37: 7:128491508-128491508
GRCh38: 7:128851454-128851454
26 FLNC NM_001127487.2(FLNC):c.147delinsTCT (p.Lys51fs) Indel Pathogenic 567163 rs1562988883 GRCh37: 7:128470838-128470838
GRCh38: 7:128830784-128830784
27 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.5653A>T (p.Lys1885Ter) SNV Pathogenic 567717 rs1563001456 GRCh37: 7:128491399-128491399
GRCh38: 7:128851345-128851345
28 FLNC NM_001458.4(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer) Deletion Pathogenic 571885 rs1562998858 GRCh37: 7:128487793-128487796
GRCh38: 7:128847739-128847742
29 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.6447del (p.Ile2150fs) Deletion Pathogenic 574095 rs1563003153 GRCh37: 7:128493853-128493853
GRCh38: 7:128853799-128853799
30 FLNC NM_001458.4(FLNC):c.1444C>T (p.Arg482Ter) SNV Pathogenic 517207 rs1420159591 GRCh37: 7:128480109-128480109
GRCh38: 7:128840055-128840055
31 FLNC NM_001458.4(FLNC):c.3937C>T (p.Arg1313Ter) SNV Pathogenic 579589 rs766330686 GRCh37: 7:128486190-128486190
GRCh38: 7:128846136-128846136
32 FLNC NM_001458.4(FLNC):c.4621A>T (p.Lys1541Ter) SNV Pathogenic 577928 rs1562999451 GRCh37: 7:128488655-128488655
GRCh38: 7:128848601-128848601
33 FLNC and overlap with 1 gene(s) NC_000007.14:g.(?_128830618)_(128858543_?)del Deletion Pathogenic 584412 GRCh37: 7:128470672-128498597
GRCh38: 7:128830618-128858543
34 FLNC NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) SNV Pathogenic 427928 rs1114167361 GRCh37: 7:128485076-128485076
GRCh38: 7:128845022-128845022
35 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.5904dup (p.Ile1969fs) Duplication Pathogenic 640320 rs1585167678 GRCh37: 7:128492705-128492706
GRCh38: 7:128852651-128852652
36 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.6883C>T (p.Gln2295Ter) SNV Pathogenic 642313 rs1585169831 GRCh37: 7:128494622-128494622
GRCh38: 7:128854568-128854568
37 FLNC NM_001458.4(FLNC):c.4127+1G>T SNV Pathogenic 643473 rs1346981294 GRCh37: 7:128486518-128486518
GRCh38: 7:128846464-128846464
38 FLNC NM_001458.4(FLNC):c.554G>A (p.Trp185Ter) SNV Pathogenic 643595 rs1585151331 GRCh37: 7:128475581-128475581
GRCh38: 7:128835527-128835527
39 FLNC NM_001458.4(FLNC):c.4729C>T (p.Gln1577Ter) SNV Pathogenic 645256 rs1585163755 GRCh37: 7:128488763-128488763
GRCh38: 7:128848709-128848709
40 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.7365C>A (p.Tyr2455Ter) SNV Pathogenic 651699 rs540386120 GRCh37: 7:128496685-128496685
GRCh38: 7:128856631-128856631
41 FLNC-AS1 , FLNC NM_001127487.2(FLNC):c.7235_7236AC[2] (p.Pro2414fs) Microsatellite Pathogenic 659634 rs1585171628 GRCh37: 7:128496653-128496654
GRCh38: 7:128856599-128856600
42 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.5675_5678del (p.Leu1892fs) Deletion Pathogenic 660879 rs1585166614 GRCh37: 7:128491512-128491515
GRCh38: 7:128851458-128851461
43 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.6242dup (p.Ser2082fs) Duplication Pathogenic 661219 rs1585168573 GRCh37: 7:128493553-128493554
GRCh38: 7:128853499-128853500
44 FLNC NM_001458.4(FLNC):c.1861_1885dup (p.Arg629fs) Duplication Pathogenic 663736 rs1585156327 GRCh37: 7:128481269-128481270
GRCh38: 7:128841215-128841216
45 FLNC NC_000007.14:g.(?_128848551)_(128848992_?)del Deletion Pathogenic 830847 GRCh37: 7:128488605-128489046
GRCh38:
46 FLNC NM_001458.4(FLNC):c.3699del (p.Val1235fs) Deletion Pathogenic 834916 GRCh37: 7:128485218-128485218
GRCh38: 7:128845164-128845164
47 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.6753dup (p.Ala2252fs) Duplication Pathogenic 837501 GRCh37: 7:128494491-128494492
GRCh38: 7:128854437-128854438
48 FLNC NM_001458.4(FLNC):c.3084C>A (p.Tyr1028Ter) SNV Pathogenic 841507 GRCh37: 7:128484212-128484212
GRCh38: 7:128844158-128844158
49 FLNC NM_001458.4(FLNC):c.4108C>T (p.Arg1370Ter) SNV Pathogenic 842060 GRCh37: 7:128486498-128486498
GRCh38: 7:128846444-128846444
50 FLNC-AS1 , FLNC NM_001458.4(FLNC):c.6190dup (p.Val2064fs) Duplication Pathogenic 843365 GRCh37: 7:128493066-128493067
GRCh38: 7:128853012-128853013

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

72
# Symbol AA change Variation ID SNP ID
1 FLNC p.Val123Ala VAR_077036 rs156299100
2 FLNC p.Ala1539Thr VAR_077038 rs156299944
3 FLNC p.Ser1624Leu VAR_077039 rs879255639
4 FLNC p.Arg2133His VAR_077040
5 FLNC p.Ile2160Phe VAR_077042 rs879255640

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

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.62 NEBL FLNC

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle fiber development GO:0048747 8.62 NEBL FLNC

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 8.62 NEBL FLNC

Sources for Cardiomyopathy, Familial Hypertrophic, 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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