Cardiomyopathy, Infantile Histiocytoid (CMIH)

Alias:
Histiocytoid Cardiomyopathy
Foamy Myocardial Transformation of Infancy
Infantile Cardiomyopathy with Histiocytoid Change
Infantile Histiocytoid Cardiomyopathy
Infantile Xanthomatous Cardiomyopathy
Oncocytic Cardiomyopathy
Cardiomyopathy, Infantile Xanthomatous
Cardiomyopathy Infantile Xanthomatous
Cardiomyopathy, Focal Lipid
Cardiomyopathy Focal Lipid
Cardiomyopathy, Oncocytic
Cardiomyopathy Oncocytic
Cmih
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cardiomyopathy, Infantile Histiocytoid, also known as histiocytoid cardiomyopathy, is related to early myoclonic encephalopathy and mitochondrial disease. 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 and cardiac myocytes, and related phenotypes are tachycardia and ventricular tachycardia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
XL
XLR
Newborn
<1/1000000
15
76
8

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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