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CMH26
MCID: CRD222
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic, 26 (CMH26)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Symptoms & Phenotypes
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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 26

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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
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Summaries for Cardiomyopathy, Familial Hypertrophic, 26

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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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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 26

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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

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

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 26

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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

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

42
Heart
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Publications for Cardiomyopathy, Familial Hypertrophic, 26

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Variations for Cardiomyopathy, Familial Hypertrophic, 26

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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.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/Likely benign rs181067717 GRCh37 Chromosome 7, 128491324: 128491324
32 FLNC NM_001458.4(FLNC): c.5578C> T (p.Arg1860Cys) single nucleotide variant Benign/Likely 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

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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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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