CMH18
MCID: CRD150
MIFTS: 25

Cardiomyopathy, Familial Hypertrophic, 18 (CMH18)

Categories: Cardiovascular diseases, Genetic 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 70
Cmh18 57 12 72
Familial Hypertrophic Cardiomyopathy 18 29 6
Cardiomyopathy, Hypertrophic, Familial, Type 18 39
Cardiomyopathy, Familial Hypertrophic 18 72
Cardiomyopathy Familial Hypertrophic 18 12
Cardiomyopathy, Hypertrophic, 18 57
Hypertrophic Cardiomyopathy 18 12

Characteristics:

OMIM®:

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


HPO:

31
cardiomyopathy, familial hypertrophic, 18:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110324
OMIM® 57 613874
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C3151265
UMLS 70 C3151265

Summaries for Cardiomyopathy, Familial Hypertrophic, 18

UniProtKB/Swiss-Prot : 72 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, also known as cmh18, is related to arrhythmogenic right ventricular dysplasia, familial, 9 and cardiomyopathy, dilated, 1p, and has symptoms including atypical chest pain An important gene associated with Cardiomyopathy, Familial Hypertrophic, 18 is PLN (Phospholamban). Related phenotypes are left ventricular hypertrophy and chest pain

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

More information from OMIM: 613874 PS192600

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 18

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Cardiomyopathy, Familial Hypertrophic, 18 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia, familial, 9 9.7 PLN CEP85L
2 cardiomyopathy, dilated, 1p 9.7 PLN CEP85L
3 cardiac arrest 9.7 PLN CEP85L
4 atrial standstill 1 9.7 PLN CEP85L
5 hypertrophic cardiomyopathy 9.6 PLN CEP85L
6 dilated cardiomyopathy 9.6 PLN CEP85L
7 familial isolated dilated cardiomyopathy 9.5 PLN CEP85L

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 18:



Diseases related to Cardiomyopathy, Familial Hypertrophic, 18

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 18

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 18:

31
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 HP:0001712
2 chest pain 31 HP:0100749
3 cardiomyopathy 31 HP:0001638
4 atrial fibrillation 31 HP:0005110

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
left ventricular hypertrophy
atrial fibrillation
atypical chest pain
apical hypertrophy (in some patients)

Clinical features from OMIM®:

613874 (Updated 20-May-2021)

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

Publications for Cardiomyopathy, Familial Hypertrophic, 18

Articles related to Cardiomyopathy, Familial Hypertrophic, 18:

(show all 14)
# Title Authors PMID Year
1
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 6 57
21167350 2011
2
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. 57 6
17655857 2007
3
Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation. 57 6
16829191 2007
4
Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. 57 6
12705874 2003
5
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland. 57
21332051 2011
6
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population. 57
16382369 2005
7
Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. 6
12639993 2003
8
Acute and Long-term Results After Contemporary Subcutaneous Implantable Cardioverter-defibrillator Implantation: A Single-center Experience. 61
29221700 2018
9
The effectiveness of screening history, physical exam, and ECG to detect potentially lethal cardiac disorders in athletes: a systematic review/meta-analysis. 61
25701104 2015
10
Childhood acquired heart disease in Nigeria: an echocardiographic study from three centres. 61
25352879 2014
11
Comparison of T1 mapping techniques for ECV quantification. Histological validation and reproducibility of ShMOLLI versus multibreath-hold T1 quantification equilibrium contrast CMR. 61
23272651 2012
12
Development of congestive heart failure in Japanese patients with atrial fibrillation. 61
17322626 2007
13
Screening the human bradykinin B2 receptor gene in patients with cardiovascular diseases: identification of a functional mutation in the promoter and a new coding variant (T21M). 61
9880221 1998
14
HLA-DR2 antigen linkage in patients with apical hypertrophic cardiomyopathy in Japan. 61
8904675 1996

Variations for Cardiomyopathy, Familial Hypertrophic, 18

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLN PLN, -77A-G SNV Pathogenic 29836 GRCh37:
GRCh38:
2 PLN PLN, -42C-G SNV Pathogenic 29837 GRCh37:
GRCh38:
3 CEP85L , PLN NM_002667.5(PLN):c.116T>G (p.Leu39Ter) SNV Pathogenic 13637 rs111033560 GRCh37: 6:118880200-118880200
GRCh38: 6:118559037-118559037
4 CEP85L , PLN NM_002667.5(PLN):c.37_39AGA[1] (p.Arg14del) Microsatellite Pathogenic 44580 rs397516784 GRCh37: 6:118880120-118880122
GRCh38: 6:118558957-118558959
5 CEP85L , PLN NM_002667.5(PLN):c.131T>C (p.Leu44Pro) SNV Uncertain significance 202184 rs794729210 GRCh37: 6:118880215-118880215
GRCh38: 6:118559052-118559052
6 CEP85L , PLN NM_002667.5(PLN):c.61C>T (p.Pro21Ser) SNV Uncertain significance 1029623 GRCh37: 6:118880145-118880145
GRCh38: 6:118558982-118558982

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
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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