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CMIH
MCID: CRD231
MIFTS: 45

Cardiomyopathy, Infantile Histiocytoid (CMIH)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Cardiomyopathy, Infantile Histiocytoid

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MalaCards integrated aliases for Cardiomyopathy, Infantile Histiocytoid:

IMPROVED
Name: Cardiomyopathy, Infantile Histiocytoid 57 73
Histiocytoid Cardiomyopathy 19 58 28 5 71
Foamy Myocardial Transformation of Infancy 57 19 58
Infantile Histiocytoid Cardiomyopathy 11 19 14
Infantile Xanthomatous Cardiomyopathy 19 58
Oncocytic Cardiomyopathy 19 58
Infantile Cardiomyopathy with Histiocytoid Change 58
Cardiomyopathy, Infantile Xanthomatous 57
Cardiomyopathy Infantile Xanthomatous 73
Cardiomyopathy, Focal Lipid 57
Focal Lipid Cardiomyopathy 19
Cardiomyopathy Focal Lipid 73
Cardiomyopathy, Oncocytic 57
Cardiomyopathy Oncocytic 73
Cmih 73

Characteristics:


Inheritance:

Histiocytoid Cardiomyopathy: Autosomal recessive,X-linked dominant 58

Age Of Onset:

Histiocytoid Cardiomyopathy: Infancy,Neonatal 58

Age Of Death:

Histiocytoid Cardiomyopathy: early childhood,elderly,normal life expectancy 58

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Inborn errors of metabolism


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Summaries for Cardiomyopathy, Infantile Histiocytoid

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OMIM®: 57 Histiocytoid cardiomyopathy, which was initially described by Voth (1962), goes by various names, including infantile xanthomatous cardiomyopathy (MacMahon, 1971), focal lipid cardiomyopathy (Bove and Schwartz, 1973), oncocytic cardiomyopathy (Silver et al., 1980), infantile cardiomyopathy with histiocytoid change (Ferrans et al., 1976), and foamy myocardial transformation of infancy (Yatani et al., 1988). The disorder is a rare but distinctive entity of infancy and childhood characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest, and the clinical course is usually fulminant, sometimes simulating sudden infant death syndrome (Andreu et al., 2000). (500000) (Updated 24-Oct-2022)

MalaCards based summary: Cardiomyopathy, Infantile Histiocytoid, also known as histiocytoid cardiomyopathy, is related to mitochondrial disease and myoclonic epilepsy associated with ragged-red fibers. An important gene associated with Cardiomyopathy, Infantile Histiocytoid is MT-CYB (Mitochondrially Encoded Cytochrome B), 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, cardiac myocytes and skin, and related phenotypes are ventricular tachycardia and failure to thrive

UniProtKB/Swiss-Prot: 73 A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome.

Disease Ontology: 11 An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has material basis in a mutation in the gene encoding mitochondrial cytochrome b.

GARD: 19 A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

Orphanet: 58 A rare arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.
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Related Diseases for Cardiomyopathy, Infantile Histiocytoid

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 mitochondrial disease 30.2 NDUFA1 MT-TT MT-ATP8 MT-ATP6
2 myoclonic epilepsy associated with ragged-red fibers 30.1 NDUFS7 MT-CYB MT-ATP8 MT-ATP6
3 kearns-sayre syndrome 29.9 MT-CYB MT-ATP8 MT-ATP6
4 mitochondrial myopathy 29.6 NDUFS2 NDUFA1 MT-TT MT-CYB MT-ATP8 MT-ATP6
5 myopathy 28.9 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2
6 periodic paralysis with later-onset distal motor neuropathy 10.3 MT-ATP8 MT-ATP6
7 wolff-parkinson-white syndrome 10.2
8 left ventricular noncompaction 10.2
9 sparganosis 10.2 MT-CYB MT-ATP6
10 isolated atp synthase deficiency 10.2 MT-ATP8 MT-ATP6
11 mitochondrial myopathy, infantile, transient 10.2 MT-CYB MT-ATP6
12 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
13 linear skin defects with multiple congenital anomalies 1 10.2
14 pearson marrow-pancreas syndrome 10.2 MT-CYB MT-ATP8 MT-ATP6
15 atrial standstill 1 10.2
16 endocardial fibroelastosis 10.2
17 dicrocoeliasis 10.2 MT-TT MT-CYB MT-ATP6
18 neuropathy, ataxia, and retinitis pigmentosa 10.2 MT-CYB MT-ATP8 MT-ATP6
19 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities 10.2 MT-TT MT-CYB MT-ATP8
20 mitochondrial complex iv deficiency, nuclear type 5 10.2 MT-CYB MT-ATP8 MT-ATP6
21 chronic progressive external ophthalmoplegia 10.2 MT-CYB MT-ATP8 MT-ATP6
22 mitochondrial complex i deficiency, nuclear type 16 10.1 NDUFS7 MT-ATP6
23 ventricular fibrillation, paroxysmal familial, 1 10.1
24 microphthalmia 10.1
25 dilated cardiomyopathy 10.1
26 cardiogenic shock 10.1
27 cardiac conduction defect 10.1
28 non-alcoholic fatty liver disease 10.1
29 early myoclonic encephalopathy 10.1
30 bartonellosis 10.0 MT-CYB CD68
31 mitochondrial dna depletion syndrome 9 10.0 NDUFS2 NDUFA1
32 cardiomyopathy, infantile hypertrophic 10.0 MT-ATP8 MT-ATP6
33 leigh syndrome with leukodystrophy 9.9 NDUFS8 NDUFS7 NDUFS2 NDUFAF2
34 corpus callosum, agenesis of 9.9
35 glaucoma 3, primary congenital, a 9.9
36 sudden infant death syndrome 9.9
37 linear skin defects with multiple congenital anomalies 3 9.9
38 hydrocephalus 9.9
39 pericarditis 9.9
40 atrial heart septal defect 9.9
41 gastroenteritis 9.9
42 congestive heart failure 9.9
43 myocarditis 9.9
44 hypotonia 9.9
45 rare cardiomyopathy 9.9
46 3-methylglutaconic aciduria, type iii 9.9 NDUFS2 MT-CYB MT-ATP6 CFAP410
47 tuberous sclerosis 1 9.9
48 tuberous sclerosis 2 9.9
49 tuberous sclerosis 9.9
50 rubella 9.9

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



Diseases related to Cardiomyopathy, Infantile Histiocytoid
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Symptoms & Phenotypes for Cardiomyopathy, Infantile Histiocytoid

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Human phenotypes related to Cardiomyopathy, Infantile Histiocytoid:

58 30 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ventricular tachycardia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004756
2 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001508
3 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002240
4 vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002013
5 fever 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001945
6 cardiomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001640
7 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001635
8 pallor 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000980
9 atrioventricular block 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001678
10 cough 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012735
11 right bundle branch block 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011712
12 tachypnea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002789
13 cyanosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000961
14 drowsiness 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002329
15 junctional ectopic tachycardia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011716
16 wolff-parkinson-white syndrome 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001716
17 exercise intolerance 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003546
18 stroke-like episode 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002401
19 agenesis of corpus callosum 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001274
20 hydrocephalus 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000238
21 corneal opacity 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0007957
22 optic atrophy 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000648
23 hypoglycemia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001943
24 cleft palate 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000175
25 polycystic ovaries 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000147
26 microphthalmia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000568
27 ventricular septal defect 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001629
28 megalocornea 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000485
29 lethargy 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001254
30 lactic acidosis 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0003128
31 atrial fibrillation 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0005110
32 renal cyst 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0000107
33 hemiplegia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002301
34 loss of consciousness 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0007185
35 laryngeal web 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0005950
36 congenital aphakia 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0007707
37 thromboembolism 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001907
38 pulmonary edema 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0100598
39 atrial flutter 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0004749
40 cerebellar malformation 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002438
41 shortened pr interval 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0005165
42 seizure 30 Very rare (1%) HP:0001250
43 seizures 58 Very rare (<4-1%)
44 tachycardia 58 Very frequent (99-80%)
45 supraventricular tachycardia 58 Frequent (79-30%)

Clinical features from OMIM®:

500000 (Updated 24-Oct-2022)

GenomeRNAi Phenotypes related to Cardiomyopathy, Infantile Histiocytoid according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.1 ACSS2 NDUFA1 NDUFB9 NDUFS2 NDUFS7 NDUFS8
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Drugs & Therapeutics for Cardiomyopathy, Infantile Histiocytoid

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

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Genetic Tests for Cardiomyopathy, Infantile Histiocytoid

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Genetic tests related to Cardiomyopathy, Infantile Histiocytoid:

# Genetic test Affiliating Genes
1 Histiocytoid Cardiomyopathy 28
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Anatomical Context for Cardiomyopathy, Infantile Histiocytoid

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Organs/tissues related to Cardiomyopathy, Infantile Histiocytoid:

MalaCards : Heart, Cardiac Myocytes, Skin
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Publications for Cardiomyopathy, Infantile Histiocytoid

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Articles related to Cardiomyopathy, Infantile Histiocytoid:

(show top 50) (show all 89)
# Title Authors PMID Year
1
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. 62 57 5
10960495 2000
2
Infantile histiocytoid cardiomyopathy: three cases and literature review. 62 57
7942464 1994
3
Oncocytic cardiomyopathy in an infant with oncocytosis in exocrine and endocrine glands. 62 57
6778813 1980
4
Infantile cardiomyopathy with histiocytoid change in cardiac muscle cells. Report of six patients. 62 57
1253396 1976
5
Focal lipid cardiomyopathy in an infant with paroxysmal atrial tachycardia. 62 57
4682025 1973
6
Infantile xanthomatous cardiomyopathy. 62 57
5560626 1971
7
Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein. 5
26803244 2016
8
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 5
19188198 2009
9
A Conditional Mutual Information Estimator for Mixed Data and an Associated Conditional Independence Test. 62
36141120 2022
10
Confined migration induces heterochromatin formation and alters chromatin accessibility. 62
36117991 2022
11
Risks and benefits of pediatric inguinal hernia repair: Conventional open repair vs laparoscopic percutaneous extraperitoneal closure. 62
34605204 2022
12
Biventricular Assist Device Support for Intractable Arrhythmias From Histiocytoid Cardiomyopathy. 62
35439193 2022
13
Laparoscopic versus open inguinal hernia repair in children: A systematic review. 62
35017392 2022
14
Findings suggestive of coronary microvascular dysfunction in cats with myocardial ischemia. 62
34722212 2021
15
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. 62
30423443 2019
16
Reoperation After Laparoscopic Inguinal Hernia Repair in Children: A Retrospective Review. 62
31433242 2019
17
Transinguinal laparoscopic evaluation of contralateral side during unilateral inguinal hernia repair for children. 62
31383517 2019
18
Successful catheter ablation of premature ventricular contractions triggering torsade de pointes in a small infant with histiocytoid cardiomyopathy: a case report. 62
31449642 2019
19
Is contralateral inguinal exploration necessary in preterm girls undergoing inguinal hernia repair during the first months of life? 62
30120549 2018
20
Comparison of single-incision laparoscopic percutaneous extraperitoneal closure (SILPEC) and open repair for pediatric inguinal hernia: a single-center retrospective cohort study of 2028 cases. 62
28597284 2017
21
Histiocytoid cardiomyopathy and ventricular noncompaction presenting as sudden death in an adult male. 62
28939283 2017
22
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. 62
27102574 2017
23
Sudden Death in a Male Infant Due to Histiocytoid Cardiomyopathy: An Autopsy Case and Review of the Literature. 62
28045696 2017
24
Risk factors for recurrence and contralateral inguinal hernia after laparoscopic percutaneous extraperitoneal closure for pediatric inguinal hernia. 62
27894761 2017
25
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11. 62
28050600 2017
26
Is contralateral exploration justified in endoscopic total extraperitoneal repair of clinical unilateral groin hernias - A Prospective cohort study. 62
27743897 2016
27
Comparison of percutaneous extraperitoneal closure (LPEC) and open repair for pediatric inguinal hernia: experience of a single institution with over 1000 cases. 62
26139500 2016
28
[Histiocytoid cardiomyopathy concurrent with noncompact myocardium, myocarditis, and pericarditis]. 62
26841649 2015
29
Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. 62
25921236 2015
30
The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby. 62
24438356 2015
31
Sudden death in a 15-year-old with diffuse cardiac rhabdomyomatosis: an autopsy case report. 62
25130767 2014
32
Contralateral metachronous hernia following negative laparoscopic evaluation for contralateral patent processus vaginalis: a meta-analysis. 62
24180355 2014
33
Orthotopic heart transplantation in two infants with histiocytoid cardiomyopathy and left ventricular non-compaction. 62
24099092 2013
34
Surgical outcome of laparoscopic and open surgery of pediatric inguinal hernia. 62
23715341 2013
35
Association of ventricular noncompaction and histiocytoid cardiomyopathy: case report and review of the literature. 62
22758650 2012
36
[Histiocytoid cardiomyopathy in an infant]. 62
22839721 2012
37
Histiocytoid cardiomyopathy: does it exist in the fetal-age group? 62
21056930 2011
38
[Sudden death due to histiocytoid cardiomyopathy]. 62
21612852 2011
39
Identification of candidate genes for histiocytoid cardiomyopathy (HC) using whole genome expression analysis: analyzing material from the HC registry. 62
21585276 2011
40
[A rare cause of sudden cardiac failure: histiocytoid cardiomyopathy]. 62
21601113 2011
41
Is mitochondrial disease the common cause of histiocytoid cardiomyopathy and non-compaction? 62
18846382 2009
42
Purkinje fiber dysplasia (histiocytoid cardiomyopathy) with ventricular noncompaction in a savannah kitten. 62
19276060 2009
43
Cardiac conduction disorders in children. 62
19482666 2009
44
Microphthalmia with Linear Skin Defects Syndrome 62
20301767 2009
45
Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant. 62
18446356 2009
46
Pediatric heart tumors. 62
18402818 2008
47
Histiocytoid cardiomyopathy: a mitochondrial disorder. 62
18473377 2008
48
Pathogenesis of cardiac conduction disorders in children genetic and histopathologic aspects. 62
16969859 2006
49
[Histiocytoid cardiomyopathy. A rare cause of ventricular tachycardia and sudden cardiac death in small children]. 62
16393567 2006
50
Left ventricular noncompaction: a pathological study of 14 cases. 62
15892002 2005
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Variations for Cardiomyopathy, Infantile Histiocytoid

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ClinVar genetic disease variations for Cardiomyopathy, Infantile Histiocytoid:

IMPROVED
5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-CYB m.15498G>A SNV Pathogenic
 9684 rs207460003 GRCh37: MT:15498-15498
GRCh38: MT:15498-15498
2 MT-ATP6, MT-ATP8 m.8528T>C SNV Pathogenic
 9640 rs387906422 GRCh37: MT:8528-8528
GRCh38: MT:8528-8528
3 NDUFB11 NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) SNV Likely Pathogenic
 190302 rs786205225 GRCh37: X:47002089-47002089
GRCh38: X:47142690-47142690
4 FAM135A NM_001162529.3(FAM135A):c.474C>G (p.Tyr158Ter) SNV Likely Benign
 254142 rs748520978 GRCh37: 6:71186967-71186967
GRCh38: 6:70477264-70477264

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

73
# Symbol AA change Variation ID SNP ID
1 MT-CYB p.Gly251Asp VAR_013656 rs207460003

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Expression for Cardiomyopathy, Infantile Histiocytoid

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Search GEO for disease gene expression data for Cardiomyopathy, Infantile Histiocytoid.
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Pathways for Cardiomyopathy, Infantile Histiocytoid

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Pathways related to Cardiomyopathy, Infantile Histiocytoid according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.39 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2
2
"Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins." 66
Show member pathways
 12.41 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2
3
Complex I biogenesis 66
Show member pathways
 11.22 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2
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GO Terms for Cardiomyopathy, Infantile Histiocytoid

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 10.28 ACSS1 CFAP410 MT-ATP6 MT-ATP8 MT-CYB NDUFA1
2 mitochondrial inner membrane GO:0005743 10.09 MT-ATP6 MT-ATP8 MT-CYB NDUFA1 NDUFAF2 NDUFB11
3 mitochondrial matrix GO:0005759 10.07 NDUFS8 NDUFS7 NDUFS2 ACSS2 ACSS1
4 mitochondrial respiratory chain complex I GO:0005747 9.73 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFA1
5 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.5 MT-ATP8 MT-ATP6
6 respirasome GO:0070469 9.17 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFA1

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.96 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFA1
2 aerobic respiration GO:0009060 9.93 NDUFA1 NDUFB11 NDUFB9 NDUFS2 NDUFS7 NDUFS8
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.8 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2
4 ethanol oxidation GO:0006069 9.71 ACSS2 ACSS1
5 acetyl-CoA biosynthetic process GO:0006085 9.67 ACSS2 ACSS1
6 acetyl-CoA biosynthetic process from acetate GO:0019427 9.62 ACSS2 ACSS1
7 electron transport chain GO:0022900 9.61 NDUFS8 NDUFS7 NDUFS2
8 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.53 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFA1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 4 iron, 4 sulfur cluster binding GO:0051539 9.88 NDUFS8 NDUFS7 NDUFS2
2 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 9.81 MT-ATP8 MT-ATP6
3 AMP binding GO:0016208 9.8 ACSS2 ACSS1
4 quinone binding GO:0048038 9.78 NDUFS7 NDUFS2
5 acetate-CoA ligase activity GO:0003987 9.62 ACSS1 ACSS2
6 propionate-CoA ligase activity GO:0050218 9.56 ACSS1 ACSS2
7 iron-sulfur cluster binding GO:0051536 9.54 NDUFS8 NDUFS7 NDUFS2
8 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.46 NDUFS8 NDUFS2
9 CoA-ligase activity GO:0016405 9.43 ACSS2 ACSS1
10 NADH dehydrogenase activity GO:0003954 9.43 NDUFS8 NDUFS7 NDUFS2
11 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.32 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFA1
12 acid-thiol ligase activity GO:0016878 9.16 ACSS2 ACSS1
Sources

Sources for Cardiomyopathy, Infantile Histiocytoid

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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