CMD2C
MCID: CRD244
MIFTS: 20

Cardiomyopathy, Dilated, 2c (CMD2C)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 2c

MalaCards integrated aliases for Cardiomyopathy, Dilated, 2c:

Name: Cardiomyopathy, Dilated, 2c 58 6
Cmd2c 58 76
Cardiomyopathy, Dilated 2c 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset within first few years of life
fatal in some children
severe muscular hypotonia and dysmorphic features were also reported in 1 patient


HPO:

33
cardiomyopathy, dilated, 2c:
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 58 618189
MeSH 45 D002311
MedGen 43 CN257789

Summaries for Cardiomyopathy, Dilated, 2c

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 2C: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children.

MalaCards based summary : Cardiomyopathy, Dilated, 2c, is also known as cmd2c. An important gene associated with Cardiomyopathy, Dilated, 2c is PPCS (Phosphopantothenoylcysteine Synthetase). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and reduced ejection fraction

OMIM : 58 CMD2C is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years. Affected individuals exhibit reduction in coenzyme A (CoA) levels. Some severely affected children die in the first few years of life (Iuso et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy (CMD), see 115200. (618189)

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 2c

Human phenotypes related to Cardiomyopathy, Dilated, 2c:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644
2 reduced ejection fraction 33 HP:0012664

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
dilated cardiomyopathy
reduced ejection fraction
increased left ventricular end-diastolic volume
reduced left ventricular contractility

Laboratory Abnormalities:
elevated serum lactate

Cardiovascular Vascular:
pulmonary artery hypertension

Metabolic Features:
low coenzyme a levels in patient fibroblasts
normal serum levels of free carnitine
relatively low levels of long chain acylcarnitines (c16, c18)
normal serum levels of pantothenic acid

Clinical features from OMIM:

618189

Drugs & Therapeutics for Cardiomyopathy, Dilated, 2c

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 2c

Genetic Tests for Cardiomyopathy, Dilated, 2c

Anatomical Context for Cardiomyopathy, Dilated, 2c

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 2c:

42
Heart

Publications for Cardiomyopathy, Dilated, 2c

Articles related to Cardiomyopathy, Dilated, 2c:

# Title Authors Year
1
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. ( 29754768 )
2018

Variations for Cardiomyopathy, Dilated, 2c

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 2c:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPCS NM_024664.3(PPCS): c.698A> T (p.Glu233Val) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 42459688: 42459688
2 PPCS NM_024664.3(PPCS): c.698A> T (p.Glu233Val) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 42925359: 42925359
3 PPCS NM_024664.3(PPCS): c.538G> C (p.Ala180Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 42457276: 42457276
4 PPCS NM_024664.3(PPCS): c.538G> C (p.Ala180Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 42922947: 42922947
5 PPCS NM_024664.3(PPCS): c.320_334del (p.Pro107_Ala111del) deletion Pathogenic GRCh38 Chromosome 1, 42456885: 42456899
6 PPCS NM_024664.3(PPCS): c.320_334del (p.Pro107_Ala111del) deletion Pathogenic GRCh37 Chromosome 1, 42922556: 42922570

Expression for Cardiomyopathy, Dilated, 2c

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 2c.

Pathways for Cardiomyopathy, Dilated, 2c

GO Terms for Cardiomyopathy, Dilated, 2c

Sources for Cardiomyopathy, Dilated, 2c

3 CDC
7 CNVD
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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
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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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
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