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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/615228
http://purl.bioontology.org/ontology/OMIM/615228
Preferred Name

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B
Synonyms
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ENCEPHALOPATHIC, ATP5A1 TYPE
MC5DN4B
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ENCEPHALOPATHIC, ATP5A1 TYPE
MC5DN4B
prefLabel
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B
Gene Symbol
ORM
ATP5F1A
COXPD22
ATP5A1
ATP5A
ATPM
MC5DN4B
MC5DN4A
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notation
615228
Scope Statement
Caused by mutation in the ATP synthase F1, alpha subunit gene (ATP5F1A, 164360.0001) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
Two sibs have been reported (last curated May 2013) [MISCELLANEOUS]
Death in first weeks of life [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU006590
http://purl.bioontology.org/ontology/OMIM/MTHU043746
http://purl.bioontology.org/ontology/OMIM/MTHU043750
http://purl.bioontology.org/ontology/OMIM/MTHU009434
http://purl.bioontology.org/ontology/OMIM/MTHU000780
http://purl.bioontology.org/ontology/OMIM/MTHU043754
http://purl.bioontology.org/ontology/OMIM/MTHU043755
http://purl.bioontology.org/ontology/OMIM/MTHU043745
http://purl.bioontology.org/ontology/OMIM/MTHU021792
http://purl.bioontology.org/ontology/OMIM/MTHU042433
http://purl.bioontology.org/ontology/OMIM/MTHU043752
http://purl.bioontology.org/ontology/OMIM/MTHU043753
http://purl.bioontology.org/ontology/OMIM/MTHU043747
http://purl.bioontology.org/ontology/OMIM/MTHU043751
http://purl.bioontology.org/ontology/OMIM/MTHU024554
http://purl.bioontology.org/ontology/OMIM/MTHU043748
http://purl.bioontology.org/ontology/OMIM/MTHU043749
http://purl.bioontology.org/ontology/OMIM/MTHU032283
http://purl.bioontology.org/ontology/OMIM/MTHU005282
http://purl.bioontology.org/ontology/OMIM/MTHU000235
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
18q21.1
tui
T047
cui
C3808899
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