KEGG   VARIANT: 6389v1
Entry
6389v1                      Variant                                
Name
SDHA deficiency
Gene
SDHA  succinate dehydrogenase complex flavoprotein subunit A [KO:K00234]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600857
Network
nt06031  Citrate cycle and pyruvate metabolism
nt06529  Thermogenesis
Disease
H02005  Mitochondrial complex II deficiency
Reference
  Authors
Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW
  Title
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
  Journal
J Med Genet 49:569-77 (2012)
DOI:10.1136/jmedgenet-2012-101146
LinkDB

KEGG   VARIANT: 6392v1
Entry
6392v1                      Variant                                
Name
SDHD deficiency
Gene
SDHD  succinate dehydrogenase complex subunit D [KO:K00237]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602690
Network
nt06031  Citrate cycle and pyruvate metabolism
nt06529  Thermogenesis
Disease
H02005  Mitochondrial complex II deficiency
Reference
  Authors
Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A
  Title
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
  Journal
J Med Genet 51:170-5 (2014)
DOI:10.1136/jmedgenet-2013-101932
LinkDB

KEGG   VARIANT: 6390v1
Entry
6390v1                      Variant                                
Name
SDHB deficiency
Gene
SDHB  succinate dehydrogenase complex iron sulfur subunit B [KO:K00235]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 185470
Network
nt06031  Citrate cycle and pyruvate metabolism
nt06529  Thermogenesis
Disease
H02005  Mitochondrial complex II deficiency
Reference
  Authors
Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW
  Title
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
  Journal
J Med Genet 49:569-77 (2012)
DOI:10.1136/jmedgenet-2012-101146
LinkDB

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