CMHI
MCID: CRD219
MIFTS: 31

Cardiomyopathy, Infantile Hypertrophic (CMHI)

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

Aliases & Classifications for Cardiomyopathy, Infantile Hypertrophic

MalaCards integrated aliases for Cardiomyopathy, Infantile Hypertrophic:

Name: Cardiomyopathy, Infantile Hypertrophic 58 76 30 6
Cmhi 76

Classifications:



External Ids:

OMIM 58 500006
MeSH 45 D002312
MedGen 43 C2748884

Summaries for Cardiomyopathy, Infantile Hypertrophic

UniProtKB/Swiss-Prot : 76 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 mitochondrial metabolism disease and combined oxidative phosphorylation deficiency 10. 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, 20
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27 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 mitochondrial metabolism disease 29.3 MT-ATP6 MT-CO2 MT-ND3
2 combined oxidative phosphorylation deficiency 10 11.4
3 leber congenital amaurosis 10.1
4 disease of mental health 10.1
5 mitochondrial disorders 10.1
6 periodic paralysis with later-onset distal motor neuropathy 10.1 MT-ATP6 MT-ATP8
7 isolated atp synthase deficiency 10.0 MT-ATP6 MT-ATP8
8 lactic acidosis 10.0 MT-ATP6 MT-CO3
9 mitochondrial complex v deficiency, mitochondrial type 1 9.9
10 optic nerve disease 9.8 MT-ATP6 MT-ND4L
11 gaucher disease, type iii 9.8 MT-CO2 MT-CO3
12 diphyllobothriasis 9.8 MT-ATP8 MT-ND3
13 kearns-sayre syndrome 9.8 MT-ATP6 MT-ATP8 MT-CO2
14 mitochondrial complex iv deficiency 9.6 MT-CO2 MT-CO3
15 mitochondrial myopathy 9.5 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
16 deafness, nonsyndromic sensorineural, mitochondrial 9.4 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3
17 leber hereditary optic neuropathy 9.2 MT-ATP6 MT-CO3 MT-ND3 MT-ND4L
18 striatonigral degeneration, infantile, mitochondrial 9.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
19 striatonigral degeneration, infantile 9.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
20 myopathy, lactic acidosis, and sideroblastic anemia 3 9.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
21 myopathy, lactic acidosis, and sideroblastic anemia 9.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
22 ataxia and polyneuropathy, adult-onset 9.0 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
23 mitochondrial dna depletion syndrome 1 9.0 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3
24 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.9 MT-ATP6 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
25 mitochondrial encephalomyopathy 8.9 MT-ATP6 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
26 leber optic atrophy 8.7 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
27 familial colorectal cancer 8.7 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
28 leigh syndrome 8.7 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
29 retinitis pigmentosa 8.6 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 30

Anatomical Context for Cardiomyopathy, Infantile Hypertrophic

MalaCards organs/tissues related to Cardiomyopathy, Infantile Hypertrophic:

42
Heart

Publications for Cardiomyopathy, Infantile Hypertrophic

Articles related to Cardiomyopathy, Infantile Hypertrophic:

# Title Authors Year
1
Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland. ( 30909120 )
2019
2
Disparities in receipt of specialty services among children with mental health need enrolled in the CMHI. ( 25727111 )
2015
3
Gender differences in patterns of child risk across programmatic phases of the CMHI: a multiple group latent class analysis (LCA). ( 20526691 )
2011
4
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. ( 19188198 )
2009

Variations for Cardiomyopathy, Infantile Hypertrophic

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

76
# 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 GRCh38 Chromosome MT, 8528: 8528
2 MT-ATP6; MT-ATP8 m.8528T> C single nucleotide variant Pathogenic rs387906422 GRCh37 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:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.93 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 MT-ND4L
2 mitochondrion GO:0005739 9.78 MT-ATP8 MT-CO2 MT-CO3 MT-ND3
3 mitochondrial membrane GO:0031966 9.54 MT-ATP8 MT-ND3 MT-ND4L
4 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND3 MT-ND4L
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.4 MT-ATP6 MT-ATP8
6 respiratory chain GO:0070469 9.33 MT-CO2 MT-ND3 MT-ND4L
7 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.32 MT-ATP6 MT-ATP8
8 respiratory chain complex IV GO:0045277 9.26 MT-CO2 MT-CO3
9 mitochondrial inner membrane GO:0005743 9.02 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3
10 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 cristae formation GO:0042407 9.37 MT-ATP6 MT-ATP8
5 ATP biosynthetic process GO:0006754 9.32 MT-ATP6 MT-ATP8
6 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP6 MT-ATP8
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP6 MT-ATP8
8 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 8.96 MT-CO2 MT-CO3
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 transmembrane transporter activity GO:0022857 9.32 MT-ATP6 MT-ATP8
2 oxidoreductase activity GO:0016491 9.26 MT-CO2 MT-ND4L
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.16 MT-ND3 MT-ND4L
4 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP6 MT-ATP8
5 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 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
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