CMIH
MCID: CRD231
MIFTS: 45

Cardiomyopathy, Infantile Histiocytoid (CMIH)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Infantile Histiocytoid

MalaCards integrated aliases for Cardiomyopathy, Infantile Histiocytoid:

Name: Cardiomyopathy, Infantile Histiocytoid 57 73
Histiocytoid Cardiomyopathy 20 58 29 6 71
Foamy Myocardial Transformation of Infancy 57 20 58
Infantile Histiocytoid Cardiomyopathy 12 20 15
Infantile Xanthomatous Cardiomyopathy 20 58
Oncocytic Cardiomyopathy 20 58
Infantile Cardiomyopathy with Histiocytoid Change 58
Cardiomyopathy, Infantile Xanthomatous 57
Cardiomyopathy Infantile Xanthomatous 73
Cardiomyopathy, Focal Lipid 57
Focal Lipid Cardiomyopathy 20
Cardiomyopathy Focal Lipid 73
Cardiomyopathy, Oncocytic 57
Cardiomyopathy Oncocytic 73
Cmih 73

Characteristics:

Orphanet epidemiological data:

58
histiocytoid cardiomyopathy
Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Cardiomyopathy, Infantile Histiocytoid

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 137675DefinitionHistiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.EpidemiologyThe prevalence is unknown but less than 100 patients have been described in the literature so far. The majority of reported cases involved children under 2 years of age with a female:male ratio of 3:1.Clinical descriptionClinically, the disease may manifest as various types of incessant arrhythmia (including atrial and ventricular fibrillation, supraventricular and ventricular tachycardia and Wolff-Parkinson-White syndrome; see this term) but sudden death due to cardiac arrest is a common presentation. Association with other cardiac defects (ventricular and atrial septal defects, hypoplastic left heart syndrome and endocardial fibroelastosis; see these terms) and with extracardiac anomalies (hypotonia, MIDAS syndrome, Peter's anomaly and congenital glaucoma; see these terms) has also been reported.EtiologyHistiocytoid cardiomyopathy was largely suspected to be caused by a developmental anomaly of the conduction system, however, a mtDNA mutation in the gene encoding mitochondrial cytochrome b ( MT-CYB) has been identified. In familial cases (5% of reported patients), inheritance appears to be autosomal recessive but X-linked transmission has also been suggested in patients with the association of histiocytoid cardiomyopathy and MIDAS syndrome (an X-linked dominant condition caused by mutations in the HCCS gene localised to Xp22).Diagnostic methodsThe histological findings are pathognomonic for the disease with yellow-tan nodules in the myocardium and, in some cases, in the subendocardial and subepicardial areas. The nodules are composed of nests of foamy histiocyte-like cells with a granular cytoplasm containing lipid droplets and abundant atypical mitochondria. These abnormal myocytes are found mainly in the ventricles but involvement of the valves has also been reported.Differential diagnosisAs sudden infant death is frequently the presenting manifestation, sudden infant death syndrome (SIDS) is often the initial diagnosis in these cases but can be ruled out by histological evaluation of the myocardial tissue.Management and treatmentManagement options for patients presenting with arrhythmias include surgical removal of the nodular lesions, and electrophysiological mapping and radiofrequency ablation of the arrhythmias. Antiarrhythmics are generally ineffective but one patient showed a good response to treatment with amiodarone.PrognosisThe prognosis in general is poor and the disease is usually fatal.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cardiomyopathy, Infantile Histiocytoid, also known as histiocytoid cardiomyopathy, is related to hereditary optic neuropathy and atrial standstill 1. An important gene associated with Cardiomyopathy, Infantile Histiocytoid is MT-CYB (Mitochondrially Encoded Cytochrome B), and among its related pathways/superpathways are Metabolism and Pathways of neurodegeneration - multiple diseases. Affiliated tissues include heart and skin, and related phenotypes are ventricular tachycardia and failure to thrive

Disease Ontology : 12 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.

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 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, infantile histiocytoid: 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.

Related Diseases for Cardiomyopathy, Infantile Histiocytoid

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 hereditary optic neuropathy 10.3 MT-CYB MT-ATP6
2 atrial standstill 1 10.3
3 trench fever 10.3 MT-TT MT-CYB
4 thelaziasis 10.3 MT-CYB MT-ATP6
5 baylisascariasis 10.3 MT-CYB MT-ATP6
6 mitochondrial myopathy, infantile, transient 10.2 MT-CYB MT-ATP6
7 wolff-parkinson-white syndrome 10.2
8 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
9 pearson marrow-pancreas syndrome 10.2 MT-CYB MT-ATP6
10 dicrocoeliasis 10.2 MT-TT MT-CYB MT-ATP6
11 linear skin defects with multiple congenital anomalies 1 10.2
12 cardiac arrhythmia 10.2
13 endocardial fibroelastosis 10.2
14 multiple mitochondrial dysfunctions syndrome 3 10.1 NDUFS8 NDUFS7
15 mental retardation, autosomal dominant 30 10.1 MT-TT MT-CYB
16 myoclonic epilepsy associated with ragged-red fibers 10.1 NDUFS7 MT-CYB MT-ATP6
17 bartonellosis 10.1 MT-CYB CD68
18 ventricular fibrillation, paroxysmal familial, 1 10.1
19 microphthalmia 10.1
20 dilated cardiomyopathy 10.1
21 myasthenic syndrome, congenital, 10 10.1 MT-TT MT-CYB
22 cardiac conduction defect 10.1
23 non-alcoholic fatty liver disease 10.1
24 early myoclonic encephalopathy 10.1
25 myopathy 10.1
26 optic nerve disease 10.0 NDUFA1 MT-CYB MT-ATP6
27 leigh syndrome with leukodystrophy 9.9 NDUFS8 NDUFS7 NDUFS2 NDUFAF2
28 sudden infant death syndrome 9.9
29 hydrocephalus 9.9
30 pericarditis 9.9
31 gastroenteritis 9.9
32 congestive heart failure 9.9
33 myocarditis 9.9
34 hypotonia 9.9
35 rare cardiomyopathy 9.9
36 cardiogenic shock 9.9
37 tuberous sclerosis 9.9
38 rubella 9.9
39 hypoplastic left heart syndrome 9.9
40 posttransplant acute limbic encephalitis 9.9
41 neuropathy 9.9 NDUFS2 NDUFB11 NDUFA1 MT-CYB MT-ATP6
42 mitochondrial encephalomyopathy 9.8 NDUFS7 NDUFAF2 NDUFA1 MT-CYB MT-ATP6
43 mitochondrial disorders 9.8 NDUFA1 MT-TT MT-ATP6
44 leukodystrophy 9.7 NDUFS8 NDUFS7 NDUFS2 NDUFAF2 NDUFA1
45 leber plus disease 9.7 NDUFS2 MT-CYB MT-ATP6 CFAP410 CD68
46 mitochondrial metabolism disease 9.6 NDUFS8 NDUFS7 NDUFS2 NDUFAF2 NDUFA1 MT-ATP6
47 leber hereditary optic neuropathy, modifier of 9.4 NDUFS8 NDUFS7 NDUFS2 NDUFAF2 NDUFA1 MT-TT
48 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.4 NDUFS8 NDUFS7 NDUFS2 NDUFAF2 NDUFA1 MT-TT
49 mitochondrial complex i deficiency, nuclear type 1 9.4 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2
50 leigh syndrome 9.3 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2

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



Diseases related to Cardiomyopathy, Infantile Histiocytoid

Symptoms & Phenotypes for Cardiomyopathy, Infantile Histiocytoid

Human phenotypes related to Cardiomyopathy, Infantile Histiocytoid:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ventricular tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0004756
2 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
3 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
4 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
5 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
6 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
7 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
8 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
9 atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0001678
10 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
11 right bundle branch block 58 31 occasional (7.5%) Occasional (29-5%) HP:0011712
12 tachypnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002789
13 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
14 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
15 junctional ectopic tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011716
16 wolff-parkinson-white syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0001716
17 exercise intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003546
18 stroke-like episode 58 31 occasional (7.5%) Occasional (29-5%) HP:0002401
19 agenesis of corpus callosum 58 31 very rare (1%) Very rare (<4-1%) HP:0001274
20 hydrocephalus 58 31 very rare (1%) Very rare (<4-1%) HP:0000238
21 corneal opacity 58 31 very rare (1%) Very rare (<4-1%) HP:0007957
22 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
23 hypoglycemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001943
24 cleft palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000175
25 polycystic ovaries 58 31 very rare (1%) Very rare (<4-1%) HP:0000147
26 microphthalmia 58 31 very rare (1%) Very rare (<4-1%) HP:0000568
27 ventricular septal defect 58 31 very rare (1%) Very rare (<4-1%) HP:0001629
28 megalocornea 58 31 very rare (1%) Very rare (<4-1%) HP:0000485
29 lethargy 58 31 very rare (1%) Very rare (<4-1%) HP:0001254
30 lactic acidosis 58 31 very rare (1%) Very rare (<4-1%) HP:0003128
31 atrial fibrillation 58 31 very rare (1%) Very rare (<4-1%) HP:0005110
32 renal cyst 58 31 very rare (1%) Very rare (<4-1%) HP:0000107
33 hemiplegia 58 31 very rare (1%) Very rare (<4-1%) HP:0002301
34 loss of consciousness 58 31 very rare (1%) Very rare (<4-1%) HP:0007185
35 pulmonary edema 58 31 very rare (1%) Very rare (<4-1%) HP:0100598
36 laryngeal web 58 31 very rare (1%) Very rare (<4-1%) HP:0005950
37 congenital aphakia 58 31 very rare (1%) Very rare (<4-1%) HP:0007707
38 thromboembolism 58 31 very rare (1%) Very rare (<4-1%) HP:0001907
39 cerebellar malformation 58 31 very rare (1%) Very rare (<4-1%) HP:0002438
40 shortened pr interval 58 31 very rare (1%) Very rare (<4-1%) HP:0005165
41 atrial flutter 58 31 very rare (1%) Very rare (<4-1%) HP:0004749
42 seizure 31 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 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.1 ACSS2 NDUFA1 NDUFB9 NDUFS2 NDUFS7 NDUFS8

Drugs & Therapeutics for Cardiomyopathy, Infantile Histiocytoid

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

Genetic Tests for Cardiomyopathy, Infantile Histiocytoid

Genetic tests related to Cardiomyopathy, Infantile Histiocytoid:

# Genetic test Affiliating Genes
1 Histiocytoid Cardiomyopathy 29

Anatomical Context for Cardiomyopathy, Infantile Histiocytoid

MalaCards organs/tissues related to Cardiomyopathy, Infantile Histiocytoid:

40
Heart, Skin

Publications for Cardiomyopathy, Infantile Histiocytoid

Articles related to Cardiomyopathy, Infantile Histiocytoid:

(show top 50) (show all 53)
# Title Authors PMID Year
1
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. 57 6 61
10960495 2000
2
Infantile histiocytoid cardiomyopathy: three cases and literature review. 61 57
7942464 1994
3
Oncocytic cardiomyopathy in an infant with oncocytosis in exocrine and endocrine glands. 57
6778813 1980
4
Infantile cardiomyopathy with histiocytoid change in cardiac muscle cells. Report of six patients. 57
1253396 1976
5
Focal lipid cardiomyopathy in an infant with paroxysmal atrial tachycardia. 57
4682025 1973
6
Infantile xanthomatous cardiomyopathy. 57
5560626 1971
7
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. 61
30423443 2019
8
Successful catheter ablation of premature ventricular contractions triggering torsade de pointes in a small infant with histiocytoid cardiomyopathy: a case report. 61
31449642 2019
9
Histiocytoid cardiomyopathy and ventricular noncompaction presenting as sudden death in an adult male. 61
28939283 2017
10
Sudden Death in a Male Infant Due to Histiocytoid Cardiomyopathy: An Autopsy Case and Review of the Literature. 61
28045696 2017
11
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. 61
27102574 2017
12
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11. 61
28050600 2017
13
[Histiocytoid cardiomyopathy concurrent with noncompact myocardium, myocarditis, and pericarditis]. 61
26841649 2015
14
Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. 61
25921236 2015
15
The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby. 61
24438356 2015
16
Sudden death in a 15-year-old with diffuse cardiac rhabdomyomatosis: an autopsy case report. 61
25130767 2014
17
Orthotopic heart transplantation in two infants with histiocytoid cardiomyopathy and left ventricular non-compaction. 61
24099092 2013
18
Association of ventricular noncompaction and histiocytoid cardiomyopathy: case report and review of the literature. 61
22758650 2012
19
[Histiocytoid cardiomyopathy in an infant]. 61
22839721 2012
20
Histiocytoid cardiomyopathy: does it exist in the fetal-age group? 61
21056930 2011
21
[Sudden death due to histiocytoid cardiomyopathy]. 61
21612852 2011
22
Identification of candidate genes for histiocytoid cardiomyopathy (HC) using whole genome expression analysis: analyzing material from the HC registry. 61
21585276 2011
23
[A rare cause of sudden cardiac failure: histiocytoid cardiomyopathy]. 61
21601113 2011
24
Is mitochondrial disease the common cause of histiocytoid cardiomyopathy and non-compaction? 61
18846382 2009
25
Purkinje fiber dysplasia (histiocytoid cardiomyopathy) with ventricular noncompaction in a savannah kitten. 61
19276060 2009
26
Cardiac conduction disorders in children. 61
19482666 2009
27
Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant. 61
18446356 2009
28
Pediatric heart tumors. 61
18402818 2008
29
Histiocytoid cardiomyopathy: a mitochondrial disorder. 61
18473377 2008
30
Pathogenesis of cardiac conduction disorders in children genetic and histopathologic aspects. 61
16969859 2006
31
[Histiocytoid cardiomyopathy. A rare cause of ventricular tachycardia and sudden cardiac death in small children]. 61
16393567 2006
32
Left ventricular noncompaction: a pathological study of 14 cases. 61
15892002 2005
33
A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation. 61
15164143 2004
34
Orthotopic heart transplantation in a child with histiocytoid cardiomyopathy. 61
15261188 2004
35
Review: Metabolic cardiomyopathy and conduction system defects in children. 61
15038665 2004
36
Cardiovascular causes for sudden infant death. 61
11942536 2002
37
Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp. 61
12900578 2002
38
Test and teach. Ill-defined subendocardial nodules in an infant. Histiocytoid cardiomyopathy. 61
11358060 2001
39
Sudden cardiac death in infancy due to histiocytoid cardiomyopathy. 61
10695541 2000
40
Histiocytoid cardiomyopathy presenting with Wolff-Parkinson-White syndrome. 61
10618346 2000
41
Histiocytoid cardiomyopathy: three new cases and a review of the literature. 61
10463272 1998
42
Histiocytoid cardiomyopathy: a cause of sudden death in infancy. 61
9406253 1997
43
Histiocytoid cardiomyopathy and sudden death. 61
8617487 1996
44
Histiocytoid cardiomyopathy with hypotonia in an infant. 61
8563940 1995
45
Sudden death in an infant due to histiocytoid cardiomyopathy. A light-microscopic, ultrastructural, and immunohistochemical study. 61
7771390 1995
46
Histiocytoid cardiomyopathy: case report and literature review. 61
8263485 1993
47
Infantile histiocytoid cardiomyopathy--myocardial or conduction system hamartoma: what is the cell type involved? 61
8244322 1993
48
Unexpected infant death attributable to cardiac tumor or cardiomyopathy. Immunohistochemical and electron microscopical findings in three cases. 61
2162615 1990
49
Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria. 61
6093033 1984
50
Histiocytoid cardiomyopathy: a cause of sudden death in apparently healthy infants. 61
6858919 1983

Variations for Cardiomyopathy, Infantile Histiocytoid

ClinVar genetic disease variations for Cardiomyopathy, Infantile Histiocytoid:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-CYB m.15498G>A SNV Pathogenic 9684 rs207460003 MT:15498-15498 MT:15498-15498
2 MT-ATP6 m.8528T>C SNV Pathogenic 9640 rs387906422 MT:8528-8528 MT:8528-8528
3 NDUFB11 NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) SNV Likely pathogenic 190302 rs786205225 X:47002089-47002089 X:47142690-47142690
4 FAM135A NM_001105531.2(FAM135A):c.474C>G (p.Tyr158Ter) SNV Likely benign 254142 rs748520978 6:71186967-71186967 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

Expression for Cardiomyopathy, Infantile Histiocytoid

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

Pathways for Cardiomyopathy, Infantile Histiocytoid

GO Terms for Cardiomyopathy, Infantile Histiocytoid

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.9 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2
2 mitochondrial inner membrane GO:0005743 9.8 NDUFS2 NDUFB9 NDUFB11 NDUFAF2 NDUFA1 MT-CYB
3 mitochondrial matrix GO:0005759 9.72 NDUFS8 NDUFS7 NDUFS2 ACSS2 ACSS1
4 mitochondrial respiratory chain complex I GO:0005747 9.43 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFA1
5 respiratory chain 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 oxidation-reduction process GO:0055114 9.76 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2
2 aerobic respiration GO:0009060 9.48 NDUFS8 NDUFS7
3 response to hyperoxia GO:0055093 9.46 MT-CYB MT-ATP6
4 ethanol oxidation GO:0006069 9.43 ACSS2 ACSS1
5 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.43 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFA1
6 electron transport coupled proton transport GO:0015990 9.4 NDUFS7 MT-CYB
7 propionate biosynthetic process GO:0019542 9.37 ACSS2 ACSS1
8 acetyl-CoA biosynthetic process from acetate GO:0019427 9.32 ACSS2 ACSS1
9 acetate biosynthetic process GO:0019413 9.26 ACSS2 ACSS1
10 mitochondrial respiratory chain complex I assembly GO:0032981 9.17 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFB11 NDUFAF2

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.58 NDUFS2 NDUFAF2 MT-CYB
2 iron-sulfur cluster binding GO:0051536 9.54 NDUFS8 NDUFS7 NDUFS2
3 4 iron, 4 sulfur cluster binding GO:0051539 9.5 NDUFS8 NDUFS7 NDUFS2
4 AMP binding GO:0016208 9.48 ACSS2 ACSS1
5 quinone binding GO:0048038 9.46 NDUFS7 NDUFS2
6 oxidoreductase activity, acting on NAD(P)H GO:0016651 9.43 NDUFS8 NDUFS2
7 propionate-CoA ligase activity GO:0050218 9.26 ACSS2 ACSS1
8 acetate-CoA ligase activity GO:0003987 9.16 ACSS2 ACSS1
9 NADH dehydrogenase activity GO:0003954 9.13 NDUFS8 NDUFS7 NDUFS2
10 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.1 NDUFS8 NDUFS7 NDUFS2 NDUFB9 NDUFAF2 NDUFA1

Sources for Cardiomyopathy, Infantile Histiocytoid

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....