PDHA1

pyruvate dehydrogenase E1 alpha 1 subunit
OMIM: 300502
PanelMode of inheritanceDetails
10 panels
R-numbers: R57
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency 312170
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
INTELLECTUAL DISABILTIY 312170, X-LINKED LEIGH SYNDROME 312170, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency 312170, X-LINKED LEIGH SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, INTELLECTUAL DISABILTIY
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency, X-LINKED LEIGH SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, INTELLECTUAL DISABILTIY
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency, 312170Leigh syndrome, X-linked, 308930, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism), Leigh syndrome, X-linked, 308930, Pyruvate dehydrogenase E1-alpha deficiency, 312170
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency, 312170, Leigh syndrome, X-linked, 308930
R-numbers: R63
Signed-off version 3.105
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
R-numbers: R316
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
R-numbers: R88
Signed-off version 5.7
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Microcephaly, seizures, very variable phenotype