CMD1X
MCID: CRD101
MIFTS: 32

Cardiomyopathy, Dilated, 1x (CMD1X)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1x

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1x:

Name: Cardiomyopathy, Dilated, 1x 57 13 70
Dilated Cardiomyopathy 1x 12 29 6 15
Cmd1x 57 12 72
Dilated Cardiomyopathy with Mild or No Proximal Muscle Weakness 12 72
Cardiomyopathy, Dilated, with Mild or No Proximal Muscle Weakness 57
Cardiomyopathy, Dilated, Type 1x 39
Cardiomyopathy, Dilated 1x 72

Characteristics:

OMIM®:

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


HPO:

31
cardiomyopathy, dilated, 1x:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110444
OMIM® 57 611615
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C1969024
UMLS 70 C1969024

Summaries for Cardiomyopathy, Dilated, 1x

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated 1X: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1x, also known as dilated cardiomyopathy 1x, is related to dilated cardiomyopathy and atrial standstill 1. An important gene associated with Cardiomyopathy, Dilated, 1x is FKTN (Fukutin). Affiliated tissues include heart, eye and brain, and related phenotypes are dilated cardiomyopathy and proximal muscle weakness

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the FKTN gene on chromosome 9q31.

More information from OMIM: 611615 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1x

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1x via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 dilated cardiomyopathy 29.2 NPPB FKTN DAG1
2 atrial standstill 1 10.1
3 congenital muscular dystrophy-dystroglycanopathy type a 9.8 FKTN DAG1
4 congenital muscular dystrophy-dystroglycanopathy type a1 9.8 FKTN DAG1
5 muscular dystrophy-dystroglycanopathy 9.8 FKTN DAG1
6 muscular dystrophy, congenital, 1b 9.8 FKTN DAG1
7 autosomal recessive limb-girdle muscular dystrophy 9.8 FKTN DAG1
8 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 FKTN DAG1
9 retinal lattice degeneration 9.8 FKTN DAG1
10 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 FKTN DAG1
11 hydrophthalmos 9.8 FKTN DAG1
12 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 FKTN DAG1
13 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 FKTN DAG1
14 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 FKTN DAG1
15 cobblestone lissencephaly 9.8 FKTN DAG1
16 lissencephaly 9.8 FKTN DAG1
17 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 FKTN DAG1
18 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 FKTN DAG1
19 muscular dystrophy, congenital merosin-deficient, 1a 9.8 FKTN DAG1
20 adermatoglyphia 9.8 FKTN DAG1
21 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 FKTN DAG1
22 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 FKTN DAG1
23 muscular dystrophy, becker type 9.8 FKTN DAG1
24 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 FKTN DAG1
25 myocarditis 9.8 NPPB DAG1
26 glaucoma 3, primary congenital, a 9.8 FKTN DAG1
27 muscle eye brain disease 9.7 FKTN DAG1
28 rigid spine muscular dystrophy 1 9.7 FKTN DAG1
29 ullrich congenital muscular dystrophy 1 9.7 FKTN DAG1
30 bethlem myopathy 1 9.7 FKTN DAG1
31 congenital nervous system abnormality 9.7 FKTN DAG1
32 muscle tissue disease 9.7 FKTN DAG1
33 muscular disease 9.7 FKTN DAG1
34 muscular dystrophy, limb-girdle, autosomal recessive 2 9.7 FKTN DAG1
35 muscular dystrophy, duchenne type 9.6 FKTN DAG1
36 muscular dystrophy, congenital, lmna-related 9.6 FKTN DAG1
37 walker-warburg syndrome 9.6 FKTN DAG1
38 arrhythmogenic right ventricular cardiomyopathy 9.6 NPPB DAG1
39 hypertrophic cardiomyopathy 9.5 NPPB FKTN DAG1
40 congenital myasthenic syndrome 9.4 FKTN DAG1

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1x:



Diseases related to Cardiomyopathy, Dilated, 1x

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1x

Human phenotypes related to Cardiomyopathy, Dilated, 1x:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644
2 proximal muscle weakness 31 HP:0003701

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
cardiomyopathy, dilated

Muscle Soft Tissue:
proximal muscle weakness, mild

Clinical features from OMIM®:

611615 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1x

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1x

Genetic Tests for Cardiomyopathy, Dilated, 1x

Genetic tests related to Cardiomyopathy, Dilated, 1x:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1x 29 FKTN

Anatomical Context for Cardiomyopathy, Dilated, 1x

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1x:

40
Heart, Eye, Brain

Publications for Cardiomyopathy, Dilated, 1x

Articles related to Cardiomyopathy, Dilated, 1x:

# Title Authors PMID Year
1
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. 6 57
17036286 2006
2
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. 6
19842201 2009
3
Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. 6
16222679 2005
4
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. 6
15103718 2004
5
Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. 6
11153909 2000
6
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. 6
9690476 1998
7
A case of pregnancy complicated with dilated cardiomyopathy 1X. 61
26566449 2015

Variations for Cardiomyopathy, Dilated, 1x

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1x:

6 (show top 50) (show all 120)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FKTN NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1] Insertion Pathogenic 3199 GRCh37:
GRCh38:
2 FKTN NM_001079802.2(FKTN):c.1073A>C (p.Gln358Pro) SNV Pathogenic 3209 rs119463993 GRCh37: 9:108382243-108382243
GRCh38: 9:105619962-105619962
3 FKTN NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) SNV Pathogenic 3210 rs119463994 GRCh37: 9:108366662-108366662
GRCh38: 9:105604381-105604381
4 FKTN NM_001079802.2(FKTN):c.1099del (p.Val367fs) Deletion Pathogenic 556831 rs1554761310 GRCh37: 9:108382269-108382269
GRCh38: 9:105619988-105619988
5 FKTN NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) Duplication Pathogenic 3203 rs398123555 GRCh37: 9:108382330-108382331
GRCh38: 9:105620049-105620050
6 FKTN NM_001079802.2(FKTN):c.540del (p.Ser180fs) Deletion Pathogenic 1033648 GRCh37: 9:108366666-108366666
GRCh38: 9:105604385-105604385
7 FKTN NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) Duplication Pathogenic 93523 rs398123557 GRCh37: 9:108366764-108366765
GRCh38: 9:105604483-105604484
8 FKTN NM_006731.2(FKTN):c.647+2084G>T SNV Likely pathogenic 496331 rs1554754182 GRCh37: 9:108368857-108368857
GRCh38: 9:105606576-105606576
9 FKTN NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) SNV Uncertain significance 286471 rs146049441 GRCh37: 9:108366509-108366509
GRCh38: 9:105604228-105604228
10 FKTN NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) SNV Uncertain significance 450015 rs1187674499 GRCh37: 9:108366685-108366685
GRCh38: 9:105604404-105604404
11 FKTN NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) SNV Uncertain significance 283469 rs146272618 GRCh37: 9:108397387-108397387
GRCh38: 9:105635106-105635106
12 FKTN NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) SNV Uncertain significance 499551 rs374912618 GRCh37: 9:108397496-108397496
GRCh38: 9:105635215-105635215
13 FKTN NM_001079802.2(FKTN):c.-39G>A SNV Uncertain significance 912449 GRCh37: 9:108337275-108337275
GRCh38: 9:105574994-105574994
14 FKTN NM_006731.2(FKTN):c.166-6A>G SNV Uncertain significance 36140 rs41277795 GRCh37: 9:108363420-108363420
GRCh38: 9:105601139-105601139
15 FKTN NM_001079802.2(FKTN):c.910+7T>G SNV Uncertain significance 912485 GRCh37: 9:108377695-108377695
GRCh38: 9:105615414-105615414
16 FKTN NM_006731.2(FKTN):c.910+14G>A SNV Uncertain significance 93525 rs76180538 GRCh37: 9:108377702-108377702
GRCh38: 9:105615421-105615421
17 FKTN NM_006731.2(FKTN):c.911-13A>G SNV Uncertain significance 381052 rs766103012 GRCh37: 9:108380227-108380227
GRCh38: 9:105617946-105617946
18 FKTN NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) SNV Uncertain significance 36136 rs146967918 GRCh37: 9:108380352-108380352
GRCh38: 9:105618071-105618071
19 FKTN NM_001079802.2(FKTN):c.*712C>T SNV Uncertain significance 912534 GRCh37: 9:108398257-108398257
GRCh38: 9:105635976-105635976
20 FKTN NM_001079802.2(FKTN):c.*760A>C SNV Uncertain significance 912535 GRCh37: 9:108398305-108398305
GRCh38: 9:105636024-105636024
21 FKTN NM_001079802.2(FKTN):c.*777C>A SNV Uncertain significance 912536 GRCh37: 9:108398322-108398322
GRCh38: 9:105636041-105636041
22 FKTN NM_001079802.2(FKTN):c.*806G>C SNV Uncertain significance 912537 GRCh37: 9:108398351-108398351
GRCh38: 9:105636070-105636070
23 FKTN NM_001079802.2(FKTN):c.*1843A>T SNV Uncertain significance 912584 GRCh37: 9:108399388-108399388
GRCh38: 9:105637107-105637107
24 FKTN NM_001079802.2(FKTN):c.*2674A>G SNV Uncertain significance 912630 GRCh37: 9:108400219-108400219
GRCh38: 9:105637938-105637938
25 FKTN NM_001079802.2(FKTN):c.*2902C>T SNV Uncertain significance 912631 GRCh37: 9:108400447-108400447
GRCh38: 9:105638166-105638166
26 FKTN NM_001079802.2(FKTN):c.*3985C>T SNV Uncertain significance 912668 GRCh37: 9:108401530-108401530
GRCh38: 9:105639249-105639249
27 FKTN NM_001079802.2(FKTN):c.*4491T>C SNV Uncertain significance 912669 GRCh37: 9:108402036-108402036
GRCh38: 9:105639755-105639755
28 FKTN NM_001079802.2(FKTN):c.*4501A>G SNV Uncertain significance 912670 GRCh37: 9:108402046-108402046
GRCh38: 9:105639765-105639765
29 FKTN NM_006731.2(FKTN):c.207T>C (p.Asn69=) SNV Uncertain significance 701478 rs752921570 GRCh37: 9:108363467-108363467
GRCh38: 9:105601186-105601186
30 FKTN NM_001079802.2(FKTN):c.*1010G>A SNV Uncertain significance 913641 GRCh37: 9:108398555-108398555
GRCh38: 9:105636274-105636274
31 FKTN NM_001079802.2(FKTN):c.*2213A>G SNV Uncertain significance 912585 GRCh37: 9:108399758-108399758
GRCh38: 9:105637477-105637477
32 FKTN NM_001079802.2(FKTN):c.*2254A>G SNV Uncertain significance 913685 GRCh37: 9:108399799-108399799
GRCh38: 9:105637518-105637518
33 FKTN NM_001079802.2(FKTN):c.*2298C>G SNV Uncertain significance 913686 GRCh37: 9:108399843-108399843
GRCh38: 9:105637562-105637562
34 FKTN NM_001079802.2(FKTN):c.*3312T>G SNV Uncertain significance 913730 GRCh37: 9:108400857-108400857
GRCh38: 9:105638576-105638576
35 FKTN NM_001079802.2(FKTN):c.*4646A>G SNV Uncertain significance 913773 GRCh37: 9:108402191-108402191
GRCh38: 9:105639910-105639910
36 FKTN NM_001079802.2(FKTN):c.*4705G>A SNV Uncertain significance 913774 GRCh37: 9:108402250-108402250
GRCh38: 9:105639969-105639969
37 FKTN NM_001079802.2(FKTN):c.-114G>A SNV Uncertain significance 913908 GRCh37: 9:108336002-108336002
GRCh38: 9:105573721-105573721
38 FKTN NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) SNV Uncertain significance 501810 rs200686690 GRCh37: 9:108366571-108366571
GRCh38: 9:105604290-105604290
39 FKTN NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) SNV Uncertain significance 913951 GRCh37: 9:108370116-108370116
GRCh38: 9:105607835-105607835
40 FKTN NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) SNV Uncertain significance 432249 rs374912618 GRCh37: 9:108397496-108397496
GRCh38: 9:105635215-105635215
41 FKTN NM_001079802.2(FKTN):c.*71C>T SNV Uncertain significance 913996 GRCh37: 9:108397616-108397616
GRCh38: 9:105635335-105635335
42 FKTN NM_001079802.2(FKTN):c.*79C>T SNV Uncertain significance 913997 GRCh37: 9:108397624-108397624
GRCh38: 9:105635343-105635343
43 FKTN NM_001079802.2(FKTN):c.*1175C>T SNV Uncertain significance 914041 GRCh37: 9:108398720-108398720
GRCh38: 9:105636439-105636439
44 FKTN NM_001079802.2(FKTN):c.*1229A>G SNV Uncertain significance 914042 GRCh37: 9:108398774-108398774
GRCh38: 9:105636493-105636493
45 FKTN NM_001079802.2(FKTN):c.*2427G>T SNV Uncertain significance 914080 GRCh37: 9:108399972-108399972
GRCh38: 9:105637691-105637691
46 FKTN NM_001079802.2(FKTN):c.*2464G>A SNV Uncertain significance 914081 GRCh37: 9:108400009-108400009
GRCh38: 9:105637728-105637728
47 FKTN NM_001079802.2(FKTN):c.*3352C>A SNV Uncertain significance 914128 GRCh37: 9:108400897-108400897
GRCh38: 9:105638616-105638616
48 FKTN NM_001079802.2(FKTN):c.*3460G>A SNV Uncertain significance 914129 GRCh37: 9:108401005-108401005
GRCh38: 9:105638724-105638724
49 FKTN NM_001079802.2(FKTN):c.*4826A>G SNV Uncertain significance 913775 GRCh37: 9:108402371-108402371
GRCh38: 9:105640090-105640090
50 FKTN NM_001079802.2(FKTN):c.*4908A>G SNV Uncertain significance 914170 GRCh37: 9:108402453-108402453
GRCh38: 9:105640172-105640172

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1x:

72
# Symbol AA change Variation ID SNP ID
1 FKTN p.Arg179Thr VAR_039287 rs119463994
2 FKTN p.Gln358Pro VAR_039289 rs119463993

Expression for Cardiomyopathy, Dilated, 1x

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1x.

Pathways for Cardiomyopathy, Dilated, 1x

GO Terms for Cardiomyopathy, Dilated, 1x

Cellular components related to Cardiomyopathy, Dilated, 1x according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.8 NPPB FKTN DAG1

Sources for Cardiomyopathy, Dilated, 1x

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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