CMHI
MCID: CRD219
MIFTS: 34

Cardiomyopathy, Infantile Hypertrophic (CMHI)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Infantile Hypertrophic

MalaCards integrated aliases for Cardiomyopathy, Infantile Hypertrophic:

Name: Cardiomyopathy, Infantile Hypertrophic 57 72 29 6
Infantile Hypertrophic Cardiomyopathy 12 15
Cmhi 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0111753
OMIM® 57 500006
MeSH 44 D002312
MedGen 41 C2748884

Summaries for Cardiomyopathy, Infantile Hypertrophic

UniProtKB/Swiss-Prot : 72 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 infantile hypertrophic cardiomyopathy, is related to combined oxidative phosphorylation deficiency 10 and hypertrophic cardiomyopathy. 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 Gene Expression and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include heart and pancreas, and related phenotypes are mortality/aging and embryo

Disease Ontology : 12 A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has material basis in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8.

More information 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
Rare Familial Disorder with Hypertrophic Cardiomyopathy

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 10 32.0 TRMU TRMT5 TRIT1 MTO1 GTPBP3
2 hypertrophic cardiomyopathy 29.7 TRMT5 SCO2 NDUFAF1 MTO1 MT-ATP8 MT-ATP6
3 mitochondrial metabolism disease 29.5 SURF1 SCO2 MT-ND6 MT-ATP6 COX15 COX10
4 mitochondrial disorders 29.4 SURF1 SCO2 PUS1 MT-ND6 MT-ATP6 COX10
5 leigh syndrome 28.1 TRMU SURF1 SCO2 PUS1 NDUFAF1 MTO1
6 combined oxidative phosphorylation deficiency 16 11.6
7 combined oxidative phosphorylation deficiency 8 11.4
8 mitochondrial complex v deficiency, mitochondrial type 1 11.3
9 periodic paralysis with later-onset distal motor neuropathy 10.4 MT-ATP8 MT-ATP6
10 atrial standstill 1 10.4
11 nuclear gene-encoded leigh syndrome 10.4 COX15 COX10
12 nuclear gene-encoded leigh syndrome spectrum 10.3 COX15 COX10
13 queensland tick typhus 10.3 TRMU MTO1
14 myopathy, lactic acidosis, and sideroblastic anemia 3 10.3 PUS1 MT-ATP6
15 isolated atp synthase deficiency 10.3 MT-ATP8 MT-ATP6
16 mitochondrial oxidative phosphorylation disorder 10.3 MTO1 MTFMT
17 deafness, autosomal recessive 26 10.3 MTO1 GTPBP3
18 mitochondrial myopathy, infantile, transient 10.3 TRMU MT-ATP6
19 hereditary optic neuropathy 10.3 MT-ND6 MT-ATP6
20 myopathy, lactic acidosis, and sideroblastic anemia 10.3 TRMU PUS1 MT-ATP6
21 myopathy, lactic acidosis, and sideroblastic anemia 2 10.3 PUS1 MT-ATP6 GTPBP3
22 dysphagia 10.3 COX15 COX10
23 myopathy, lactic acidosis, and sideroblastic anemia 1 10.2 PUS1 MT-ATP6 COX10
24 leigh syndrome with cardiomyopathy 10.2 SURF1 SCO2
25 villous adenocarcinoma 10.2 MT-ND6 MT-ATP8
26 mitochondrial dna-associated leigh syndrome 10.2 MT-ND6 MT-ATP6
27 cardiomyopathy, infantile histiocytoid 10.2 MT-ATP8 MT-ATP6
28 mitochondrial dna-associated leigh syndrome and narp 10.2 MT-ND6 MT-ATP6
29 cardioencephalomyopathy 10.2 SURF1 SCO2 COX15
30 mitochondrial dna depletion syndrome 4a 10.2 TRMU SURF1 MT-ATP6
31 mitochondrial dna depletion syndrome 2 10.2 TEFM SCO2
32 thelaziasis 10.1 MT-ND6 MT-ATP8 MT-ATP6
33 charcot-marie-tooth disease, type 4k 10.1 SURF1 PET117
34 drug-induced hearing loss 10.1 TRMU MT-ND6 GTPBP3
35 deafness, aminoglycoside-induced 10.1 TRMU MT-ND6 GTPBP3
36 glycogen storage disease of heart, lethal congenital 10.1
37 glycogen storage disease 10.1
38 leigh syndrome with leukodystrophy 10.1 SURF1 MTFMT COX15
39 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.1 TRMT5 TEFM
40 combined oxidative phosphorylation deficiency 10.1 TRIT1 MTO1 MTFMT ELAC2
41 mitochondrial dna depletion syndrome 1 10.1 TEFM SCO2
42 mitochondrial complex iv deficiency, nuclear type 5 10.0 SURF1 MT-ND6 MT-ATP6
43 pearson marrow-pancreas syndrome 10.0 TRMU PUS1 MT-ND6 MT-ATP6
44 encephalopathy, ethylmalonic 10.0 TRMU SURF1
45 optic nerve disease 10.0 MT-ND6 MT-ATP8 MT-ATP6
46 fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 10.0 SURF1 SCO2 MT-ATP6 COX15 COX10
47 cardiac conduction defect 10.0
48 cardiomyopathy, familial hypertrophic, 4 10.0
49 ichthyosis hystrix, curth-macklin type 10.0
50 noonan syndrome 1 10.0

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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cardiomyopathy, Infantile Hypertrophic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 COX10 COX15 COX6B1 ELAC2 FASTKD5 GTPBP3
2 embryo MP:0005380 9.76 COX15 COX6B1 FASTKD5 GTPBP3 SCO2 SURF1
3 muscle MP:0005369 9.17 COX10 COX15 MT-ND6 MTO1 PUS1 SCO2

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:

40
Heart, Pancreas

Publications for Cardiomyopathy, Infantile Hypertrophic

Articles related to Cardiomyopathy, Infantile Hypertrophic:

(show all 25)
# Title Authors PMID Year
1
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 61 6 57
19188198 2009
2
Infantile Hypertrophic Cardiomyopathy and Bronchopneumonia as Causes of an Unexpected Death in an 11-Month-Old Child. 61
31448665 2020
3
Isolated Heme A Synthase from Aquifex aeolicus Is a Trimer. 61
32605991 2020
4
Incidental finding of type A aortic dissection in a paediatric heart transplant recipient. 61
31451126 2019
5
Phenotypic Screening Using Patient-Derived Induced Pluripotent Stem Cells Identified Pyr3 as a Candidate Compound for the Treatment of Infantile Hypertrophic Cardiomyopathy. 61
30101858 2018
6
Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARĪ³-UCP2-AMPK axis. 61
29348686 2018
7
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation. 61
27692944 2017
8
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. 61
27769300 2016
9
Leigh syndrome associated with a novel mutation in the COX15 gene. 61
26959537 2016
10
Analysis of Oligomerization Properties of Heme a Synthase Provides Insights into Its Function in Eukaryotes. 61
26940873 2016
11
Diffuse rhabdomyomatosis presenting as infantile hypertrophic cardiomyopathy. 61
24461431 2014
12
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. 61
23849775 2013
13
Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation. 61
23594557 2013
14
Unusual cardiac "masses" in a newborn with infantile pompe disease. 61
23430912 2012
15
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. 61
21931170 2011
16
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. 61
18467358 2008
17
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. 61
15210538 2004
18
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. 61
12928484 2003
19
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. 61
12474143 2003
20
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. 61
11027508 2000
21
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. 61
10368461 1999
22
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. 61
9382097 1997
23
Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase. 61
8236826 1993
24
Infantile hypertrophic cardiomyopathy with QT prolongation. 61
2819556 1989
25
Infantile hypertrophic cardiomyopathy with QT prolongation. 61
3573304 1986

Variations for Cardiomyopathy, Infantile Hypertrophic

ClinVar genetic disease variations for Cardiomyopathy, Infantile Hypertrophic:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ATP6 , MT-ATP8 m.8528T>C SNV Pathogenic 9640 rs387906422 GRCh37: MT:8528-8528
GRCh38: MT:8528-8528

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

72
# Symbol AA change Variation ID SNP ID
1 MT-ATP8 p.Trp55Arg VAR_069527 rs387906422

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 mitochondrial matrix GO:0005759 9.7 TRMT5 TRIT1 TEFM SCO2 PUS1 NDUFAF1
2 mitochondrial membrane GO:0031966 9.67 MT-ND6 MT-ATP8 COX15 COX10
3 mitochondrion GO:0005739 9.62 TRMU TRMT5 TRIT1 TEFM SURF1 SCO2
4 mitochondrial inner membrane GO:0005743 9.61 SURF1 SCO2 NDUFAF1 MT-ND6 MT-ATP8 MT-ATP6
5 mitochondrial nucleoid GO:0042645 9.5 TEFM FASTKD5 ELAC2
6 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.46 MT-ATP8 MT-ATP6
7 mitochondrial respiratory chain GO:0005746 9.43 SURF1 COX15
8 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.4 MT-ATP8 MT-ATP6
9 cytochrome complex GO:0070069 9.26 COX15 COX10

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.67 SURF1 COX6B1 COX15 COX10
2 tRNA methylation GO:0030488 9.61 TRMT5 MTO1 GTPBP3
3 ATP biosynthetic process GO:0006754 9.56 MT-ATP8 MT-ATP6
4 cristae formation GO:0042407 9.55 MT-ATP8 MT-ATP6
5 aerobic respiration GO:0009060 9.54 SURF1 COX10
6 ATP synthesis coupled proton transport GO:0015986 9.52 MT-ATP8 MT-ATP6
7 heme biosynthetic process GO:0006783 9.51 COX15 COX10
8 oxidative phosphorylation GO:0006119 9.5 TEFM SURF1 COX6B1
9 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.49 MT-ATP8 MT-ATP6
10 tRNA wobble uridine modification GO:0002098 9.48 MTO1 GTPBP3
11 cellular respiration GO:0045333 9.46 COX15 COX10
12 mitochondrial respiratory chain complex IV assembly GO:0033617 9.43 SURF1 SCO2 PET117
13 heme a biosynthetic process GO:0006784 9.4 COX15 COX10
14 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.33 COX6B1 COX15 COX10
15 respiratory chain complex IV assembly GO:0008535 9.26 SURF1 SCO2 COX15 COX10
16 tRNA processing GO:0008033 9.17 TRMU TRMT5 TRIT1 PUS1 MTO1 GTPBP3

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 9.16 MT-ATP8 MT-ATP6
2 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 8.96 MT-ATP8 MT-ATP6
3 cytochrome-c oxidase activity GO:0004129 8.92 SURF1 COX6B1 COX15 COX10

Sources for Cardiomyopathy, Infantile Hypertrophic

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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