MCID: CRD150
MIFTS: 20

Cardiomyopathy, Familial Hypertrophic, 18

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 18

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 18:

Name: Cardiomyopathy, Familial Hypertrophic, 18 57 13 73
Cmh18 57 12 75
Familial Hypertrophic Cardiomyopathy 18 29 6
Cardiomyopathy, Hypertrophic, Familial, Type 18 40
Cardiomyopathy, Familial Hypertrophic 18 75
Cardiomyopathy Familial Hypertrophic 18 12
Cardiomyopathy, Hypertrophic, 18 57
Hypertrophic Cardiomyopathy 18 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, familial hypertrophic, 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613874
Disease Ontology 12 DOID:0110324
MedGen 42 C3151265
MeSH 44 D024741
UMLS 73 C3151265

Summaries for Cardiomyopathy, Familial Hypertrophic, 18

UniProtKB/Swiss-Prot : 75 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 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
left ventricular hypertrophy
apical hypertrophy (in some patients)
atrial fibrillation
atypical chest pain


Clinical features from OMIM:

613874

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 18:

32
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 32 HP:0001638
2 left ventricular hypertrophy 32 HP:0001712
3 atrial fibrillation 32 HP:0005110

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 29 PLN

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 18

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

41
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.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh37 Chromosome 6, 118880200: 118880200
2 PLN NM_002667.4(PLN): c.116T> G (p.Leu39Ter) single nucleotide variant Pathogenic rs111033560 GRCh38 Chromosome 6, 118559037: 118559037
3 PLN PLN, -77A-G single nucleotide variant Pathogenic
4 PLN PLN, -42C-G single nucleotide variant Pathogenic
5 PLN NM_002667.4(PLN): c.131T> C (p.Leu44Pro) single nucleotide variant Uncertain significance rs794729210 GRCh38 Chromosome 6, 118559052: 118559052
6 PLN NM_002667.4(PLN): c.131T> C (p.Leu44Pro) single nucleotide variant Uncertain significance rs794729210 GRCh37 Chromosome 6, 118880215: 118880215

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....