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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/220111
http://purl.bioontology.org/ontology/OMIM/220111
|
|---|---|
| Preferred Name | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 |
| Synonyms |
LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE
COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE
COX DEFICIENCY, FRENCH CANADIAN TYPE
LEIGH SYNDROME, FRENCH CANADIAN TYPE
CYTOCHROME c OXIDASE DEFICIENCY, FRENCH CANADIAN TYPE
LSFC
MC4DN5
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE
COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE
COX DEFICIENCY, FRENCH CANADIAN TYPE
LEIGH SYNDROME, FRENCH CANADIAN TYPE
CYTOCHROME c OXIDASE DEFICIENCY, FRENCH CANADIAN TYPE
LSFC
MC4DN5
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|---|---|
| prefLabel | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
|
| Gene Symbol |
MC4DN5
LRP130
LRPPRC
LSFC
|
| Scope Statement | First described in the geographically isolated Saguenay-Lac-Saint-Jean region of Quebec, Canada [MISCELLANEOUS]
Death usually occurs by age 2 years [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Death often occurs during metabolic/acidotic crisis [MISCELLANEOUS]
Incidence of 1 in 2,000 in Saguenay-Lac-Saint-Jean region [MISCELLANEOUS]
Caused by mutation in the leucine-rich PPR motif-containing protein gene (LRPPRC, 607544.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 2p21
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 220111
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1857355
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |