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Isolated complex III deficiency

ORPHA:1460DiseaseAutosomal recessive, Mitochondrial inheritanceChildhood, Infancy, Neonatal

Ассоциированные гены (11)

BCS1L
BCS1 ubiquinol-cytochrome c reductase complex chaperone
Disease-causing germline mutation(s) in
OMIM: 603647
MT-CYB
mitochondrially encoded cytochrome b
Disease-causing germline mutation(s) in
OMIM: 516020
UQCRQ
ubiquinol-cytochrome c reductase complex III subunit VII
Disease-causing germline mutation(s) in
OMIM: 612080
UQCRB
ubiquinol-cytochrome c reductase binding protein
Disease-causing germline mutation(s) in
OMIM: 191330
TTC19
tetratricopeptide repeat domain 19
Disease-causing germline mutation(s) in
OMIM: 613814
UQCRC2
ubiquinol-cytochrome c reductase core protein 2
Disease-causing germline mutation(s) in
OMIM: 191329
CYC1
cytochrome c1
Disease-causing germline mutation(s) in
OMIM: 123980
LYRM7
LYR motif containing 7
Disease-causing germline mutation(s) in
OMIM: 615831
UQCC2
ubiquinol-cytochrome c reductase complex assembly factor 2
Disease-causing germline mutation(s) in
OMIM: 614461
UQCC3
ubiquinol-cytochrome c reductase complex assembly factor 3
Disease-causing germline mutation(s) in
OMIM: 616097
UQCRFS1
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Disease-causing germline mutation(s) in
OMIM: 191327

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы