Mitochondrial Complex Iv Deficiency, Nuclear Type 2 (MC4DN2)

Alias:
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 1
Mc4dn2
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Mitochondrial Complex 2 Deficiency, Nuclear Type 4
Cemcox1
Mc2dn4
Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency 1
Cytochrome C Oxidase Deficiency, Fatal Infantile, with Cardioencephalomyopathy
Cytochrome C Oxidase Deficiency with Fatal Infantile Cardioencephalomyopathy
Mitochondrial Complex Iv Deficiency Nuclear Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Complex Iv Deficiency, Nuclear Type 2, also known as cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, is related to myopia 6 and myopia, and has symptoms including dyspnea An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 2 is SCO2 (Synthesis Of Cytochrome C Oxidase 2), and among its related pathways/superpathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include spinal cord and skeletal muscle, and related phenotypes are hyperreflexia and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
3
17
23

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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IF
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