Mitochondrial Complex Iv Deficiency, Nuclear Type 5 (MC4DN5)

Mitochondrial Complex Iv Deficiency, Nuclear Type 5(来自ICD-11)

别称:

Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type

Mitochondrial Complex V Deficiency Nuclear Type 4

Leigh Syndrome, Saguenay-Lac-Saint-Jean Type

Leigh Syndrome, French-Canadian Type

Leigh Syndrome, French Canadian Type

Cytochrome Oxidase Deficiency, Saguenay-Lac-Saint-Jean Type

Cytochrome C Oxidase Deficiency, French Canadian Type

Cytochrome C Oxidase Deficiency, French-Canadian Type

Cox Deficiency, Saguenay-Lac-Saint-Jean Type

Leigh Syndrome , French Canadian Type

Cox Deficiency, French Canadian Type

Cox Deficiency, French-Canadian Type

French Canadian Leigh Disease

Slsj-Cox Deficiency

Mc4dn5

Lsfc

French Canadian Type Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency Nuclear Type 5

Saguenay Lac Saint Jean Type Cox Deficiency

Saguenay Lac Saint Jean Type Leigh Syndrome

French Canadian Type Cox Deficiency

French Canadian Type Leigh Syndrome

Mc5dn4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Complex Iv Deficiency, Nuclear Type 5, also known as congenital lactic acidosis, saguenay-lac-saint-jean type, is related to mitochondrial complex v deficiency, nuclear type 5 and mitochondrial disease, and has symptoms including ataxia, tremor and apnea. An important gene associated with Mitochondrial Complex Iv Deficiency, Nuclear Type 5 is LRPPRC (Leucine Rich Pentatricopeptide Repeat Containing), 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 eye and liver, and related phenotypes are failure to thrive and hypotonia

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