MCID: CRD219
MIFTS: 29

Cardiomyopathy, Infantile Hypertrophic

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Infantile Hypertrophic

MalaCards integrated aliases for Cardiomyopathy, Infantile Hypertrophic:

Name: Cardiomyopathy, Infantile Hypertrophic 57 75 29 6
Cmhi 75

Classifications:



External Ids:

OMIM 57 500006
MedGen 42 C2748884
MeSH 44 D002312

Summaries for Cardiomyopathy, Infantile Hypertrophic

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, infantile hypertrophic: An infantile form of hypertrophic cardiomyopathy, a 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, Infantile Hypertrophic, also known as cmhi, is related to combined oxidative phosphorylation deficiency 10 and periodic paralysis with later-onset distal motor neuropathy. An important gene associated with Cardiomyopathy, Infantile Hypertrophic is MT-ATP8 (Mitochondrially Encoded ATP Synthase Membrane Subunit 8), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include heart.

Description from OMIM: 500006

Related Diseases for Cardiomyopathy, Infantile Hypertrophic

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, 19
Cardiomyopathy, Familial Hypertrophic, 20 Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Familial Hypertrophic, 26 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 10 11.2
2 periodic paralysis with later-onset distal motor neuropathy 10.2 MT-ATP6 MT-ATP8
3 isolated atp synthase deficiency 10.1 MT-ATP6 MT-ATP8
4 mitochondrial complex v deficiency 10.0 MT-ATP6 MT-ATP8
5 diphyllobothriasis 9.8 MT-ATP8 MT-ND3
6 hypertrophic cardiomyopathy 9.8
7 mitochondrial metabolism disease 9.7 MT-ATP6 MT-ND3
8 sideroblastic anemia acquired 9.5 MT-ATP6 MT-ATP8 MT-CO2
9 mitochondrial dna-associated leigh syndrome and narp 9.5 MT-ATP6 MT-CO3 MT-ND3
10 kearns-sayre syndrome 9.4 MT-ATP6 MT-ATP8 MT-CO2
11 lactic acidosis 9.4 MT-ATP6 MT-CO3
12 mitochondrial disorders 9.2 MT-ATP6 MT-CO2 MT-ND3
13 mitochondrial complex iv deficiency 9.2 MT-CO2 MT-CO3 MT-ND3
14 deafness, nonsyndromic sensorineural, mitochondrial 8.9 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
15 mitochondrial myopathy 8.9 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
16 myopathy 8.6 MT-ATP6 MT-CO2 MT-CO3 MT-ND3
17 leber hereditary optic neuropathy 8.5 MT-ATP6 MT-CO3 MT-ND3 MT-ND4L
18 mitochondrial encephalomyopathy 8.3 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
19 mitochondrial dna depletion syndrome 1 8.3 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3
20 striatonigral degeneration, infantile, mitochondrial 8.1 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
21 myopathy, lactic acidosis, and sideroblastic anemia 3 8.1 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
22 striatonigral degeneration, infantile 8.1 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
23 ataxia and polyneuropathy, adult-onset 8.1 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
24 myopathy, lactic acidosis, and sideroblastic anemia 8.1 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
25 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 7.8 MT-ATP6 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
26 leber optic atrophy 7.4 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
27 familial colorectal cancer 7.4 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
28 leigh syndrome 7.3 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
29 retinitis pigmentosa 7.3 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 MT-ND4L

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



Diseases related to Cardiomyopathy, Infantile Hypertrophic

Symptoms & Phenotypes for Cardiomyopathy, Infantile Hypertrophic

Clinical features from OMIM:

500006

Drugs & Therapeutics for Cardiomyopathy, Infantile Hypertrophic

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Infantile Hypertrophic

Genetic Tests for Cardiomyopathy, Infantile Hypertrophic

Genetic tests related to Cardiomyopathy, Infantile Hypertrophic:

# Genetic test Affiliating Genes
1 Cardiomyopathy, Infantile Hypertrophic 29

Anatomical Context for Cardiomyopathy, Infantile Hypertrophic

MalaCards organs/tissues related to Cardiomyopathy, Infantile Hypertrophic:

41
Heart

Publications for Cardiomyopathy, Infantile Hypertrophic

Variations for Cardiomyopathy, Infantile Hypertrophic

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Infantile Hypertrophic:

75
# Symbol AA change Variation ID SNP ID
1 MT-ATP8 p.Trp55Arg VAR_069527 rs387906422

ClinVar genetic disease variations for Cardiomyopathy, Infantile Hypertrophic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6; MT-ATP8 m.8528T> C single nucleotide variant Pathogenic rs387906422 GRCh37 Chromosome MT, 8528: 8528
2 MT-ATP6; MT-ATP8 m.8528T> C single nucleotide variant Pathogenic rs387906422 GRCh38 Chromosome MT, 8528: 8528

Expression for Cardiomyopathy, Infantile Hypertrophic

Search GEO for disease gene expression data for Cardiomyopathy, Infantile Hypertrophic.

Pathways for Cardiomyopathy, Infantile Hypertrophic

GO Terms for Cardiomyopathy, Infantile Hypertrophic

Cellular components related to Cardiomyopathy, Infantile Hypertrophic according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.95 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
2 mitochondrion GO:0005739 9.8 MT-ATP8 MT-CO2 MT-CO3 MT-ND3
3 mitochondrial membrane GO:0031966 9.5 MT-ATP8 MT-ND3 MT-ND4L
4 mitochondrial respiratory chain complex I GO:0005747 9.46 MT-ND3 MT-ND4L
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.43 MT-ATP6 MT-ATP8
6 mitochondrial respiratory chain complex IV GO:0005751 9.4 MT-CO2 MT-CO3
7 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP6 MT-ATP8
8 respiratory chain GO:0070469 9.33 MT-CO2 MT-ND3 MT-ND4L
9 respiratory chain complex IV GO:0045277 9.26 MT-CO2 MT-CO3
10 mitochondrial inner membrane GO:0005743 9.02 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3
11 NADH dehydrogenase complex GO:0030964 8.96 MT-ND3 MT-ND4L

Biological processes related to Cardiomyopathy, Infantile Hypertrophic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 MT-CO2 MT-ND3 MT-ND4L
2 proton transmembrane transport GO:1902600 9.43 MT-CO2 MT-CO3
3 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.4 MT-ND3 MT-ND4L
4 ATP biosynthetic process GO:0006754 9.37 MT-ATP6 MT-ATP8
5 cristae formation GO:0042407 9.32 MT-ATP6 MT-ATP8
6 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP6 MT-ATP8
7 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.16 MT-CO2 MT-CO3
8 mitochondrial ATP synthesis coupled proton transport GO:0042776 8.96 MT-ATP6 MT-ATP8
9 ATP synthesis coupled electron transport GO:0042773 8.62 MT-CO2 MT-ND4L

Molecular functions related to Cardiomyopathy, Infantile Hypertrophic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.43 MT-CO2 MT-ND3 MT-ND4L
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.16 MT-ND3 MT-ND4L
3 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP6 MT-ATP8
4 cytochrome-c oxidase activity GO:0004129 8.62 MT-CO2 MT-CO3

Sources for Cardiomyopathy, Infantile Hypertrophic

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
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