ABCD1

ATP binding cassette subfamily D member 1
OMIM: 300371
PanelMode of inheritanceDetails
8 panels
R-numbers: R60
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
spastic paraparesis, Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, Adrenoleukodystrophy, 300100
R-numbers: R62
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100
R-numbers: R58
Signed-off version 5.4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Hereditary spastic paraplegia, MONDO:0019064, adrenal failure, VLCFA accumulation, spastic paraparesis
R-numbers: R61
Signed-off version 5.3
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
spastic paraparesis, VLCFA accumulation, adrenal failure, Hereditary spastic paraplegia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ADRENOLEUKODYSTROPHY, X-LINKED 300100
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, biallelic mutations in females
Phenotypes
Adrenoleukodystrophy, 300100, Adrenomyeloneuropathy, adult, 300100, ADRENOLEUKODYSTROPHY, X-LINKED
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
X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation), Adrenoleukodystrophy 300100
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Adrenomyeloneuropathy, adult, 300100, Adrenoleukodystrophy, X-linked, Adrenoleukodystrophy, Adrenoleukodystrophy, 300100, X-Linked Adrenoleukodystrophy