CMD2C
MCID: CRD244
MIFTS: 20

Cardiomyopathy, Dilated, 2c (CMD2C)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 2c

MalaCards integrated aliases for Cardiomyopathy, Dilated, 2c:

Name: Cardiomyopathy, Dilated, 2c 57 29 6
Cmd2c 57 72
Cardiomyopathy, Dilated 2c 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
cardiomyopathy, dilated, 2c:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM® 57 618189
MeSH 44 D002311

Summaries for Cardiomyopathy, Dilated, 2c

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are dilated cardiomyopathy and pulmonary arterial hypertension

OMIM® : 57 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) (Updated 20-May-2021)

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 2c

Human phenotypes related to Cardiomyopathy, Dilated, 2c:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644
2 pulmonary arterial hypertension 31 HP:0002092
3 reduced ejection fraction 31 HP:0012664

Symptoms via clinical synopsis from OMIM®:

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

Drugs & Therapeutics for Cardiomyopathy, Dilated, 2c

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

Genetic Tests for Cardiomyopathy, Dilated, 2c

Genetic tests related to Cardiomyopathy, Dilated, 2c:

# Genetic test Affiliating Genes
1 Cardiomyopathy, Dilated, 2c 29 PPCS

Anatomical Context for Cardiomyopathy, Dilated, 2c

Publications for Cardiomyopathy, Dilated, 2c

Articles related to Cardiomyopathy, Dilated, 2c:

# Title Authors PMID Year
1
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. 57 6
29754768 2018

Variations for Cardiomyopathy, Dilated, 2c

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC30 , PPCS NM_024664.4(PPCS):c.698A>T (p.Glu233Val) SNV Pathogenic 590782 rs1557778277 GRCh37: 1:42925359-42925359
GRCh38: 1:42459688-42459688
2 CCDC30 , PPCS NM_024664.4(PPCS):c.538G>C (p.Ala180Pro) SNV Pathogenic 590783 rs1557776329 GRCh37: 1:42922947-42922947
GRCh38: 1:42457276-42457276
3 CCDC30 , PPCS NM_024664.4(PPCS):c.320_334del (p.Pro107_Ala111del) Deletion Pathogenic 590784 rs753011525 GRCh37: 1:42922555-42922569
GRCh38: 1:42456884-42456898
4 CCDC30 , PPCS NM_024664.4(PPCS):c.792G>C (p.Gln264His) SNV Uncertain significance 1028836 GRCh37: 1:42925453-42925453
GRCh38: 1:42459782-42459782

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 2c:

72
# Symbol AA change Variation ID SNP ID
1 PPCS p.Ala180Pro VAR_081991 rs155777632
2 PPCS p.Glu233Val VAR_081992 rs155777827

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
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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