CMH18
MCID: CRD150
MIFTS: 20

Cardiomyopathy, Familial Hypertrophic, 18 (CMH18)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 18

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 18:

Name: Cardiomyopathy, Familial Hypertrophic, 18 58 13 74
Cmh18 58 12 76
Familial Hypertrophic Cardiomyopathy 18 30 6
Cardiomyopathy, Hypertrophic, Familial, Type 18 41
Cardiomyopathy, Familial Hypertrophic 18 76
Cardiomyopathy Familial Hypertrophic 18 12
Cardiomyopathy, Hypertrophic, 18 58
Hypertrophic Cardiomyopathy 18 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, familial hypertrophic, 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110324
OMIM 58 613874
MeSH 45 D024741
MedGen 43 C3151265
UMLS 74 C3151265

Summaries for Cardiomyopathy, Familial Hypertrophic, 18

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, familial hypertrophic 18: 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.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 18, is also known as cmh18, and has symptoms including atypical chest pain An important gene associated with Cardiomyopathy, Familial Hypertrophic, 18 is PLN (Phospholamban). Affiliated tissues include heart, and related phenotypes are cardiomyopathy and left ventricular hypertrophy

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1.

Description from OMIM: 613874

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 18

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 18:

33
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 33 HP:0001638
2 left ventricular hypertrophy 33 HP:0001712
3 chest pain 33 HP:0100749
4 atrial fibrillation 33 HP:0005110

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
left ventricular hypertrophy
atrial fibrillation
atypical chest pain
apical hypertrophy (in some patients)

Clinical features from OMIM:

613874

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 18:


atypical chest pain

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 18

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 18

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 18

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 18:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 18 30 PLN

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 18

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 18:

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 18

Variations for Cardiomyopathy, Familial Hypertrophic, 18

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLN NM_002667.4(PLN): c.131T> C (p.Leu44Pro) single nucleotide variant Uncertain significance rs794729210 GRCh38 Chromosome 6, 118559052: 118559052
2 PLN NM_002667.4(PLN): c.131T> C (p.Leu44Pro) single nucleotide variant Uncertain significance rs794729210 GRCh37 Chromosome 6, 118880215: 118880215
3 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh37 Chromosome 6, 118880200: 118880200
4 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh38 Chromosome 6, 118559037: 118559037
5 PLN PLN, -77A-G single nucleotide variant Pathogenic
6 PLN PLN, -42C-G single nucleotide variant Pathogenic

Expression for Cardiomyopathy, Familial Hypertrophic, 18

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 18.

Pathways for Cardiomyopathy, Familial Hypertrophic, 18

GO Terms for Cardiomyopathy, Familial Hypertrophic, 18

Sources for Cardiomyopathy, Familial Hypertrophic, 18

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
Content
Loading form....