IDUA

iduronidase, alpha-L-
OMIM: 252800
PanelMode of inheritanceDetails
9 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015, MUCOPOLYSACCHARIDOSIS TYPE 1S 607016, MUCOPOLYSACCHARIDOSIS TYPE 1H 607014
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 1H, MUCOPOLYSACCHARIDOSIS TYPE 1H/S, MUCOPOLYSACCHARIDOSIS TYPE 1S
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015, MUCOPOLYSACCHARIDOSIS TYPE 1S (MPS1S)
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hurler syndrome, Mucopolysaccharidosis type 1H/S, MPS I, Hurler, Scheie disease (Mucopolysaccharidoses), Scheie syndrome, Hurler-Scheie syndrome, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis type 1H, Mucopolysaccharidosis Ih/s, 607015, Mucopolysaccharidosis, Type I, Mucopolysaccharidosis Is, 607016, Mucopolysaccharidosis Ih, 607014
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Ih OMIM:607014, Hurler syndrome MONDO:0011758, Mucopolysaccharidosis Is OMIM:607016, Scheie syndrome MONDO:0011760, Mucopolysaccharidosis Ih/s OMIM:607015, Hurler-Scheie syndromeMONDO:0011759
R-numbers: R277
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MPS I, Hurler, Scheie disease (Mucopolysaccharidoses), Mucopolysaccharidosis type 1H/S, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis Is, 607016, Hurler syndrome, Mucopolysaccharidosis Ih/s, 607015, Scheie syndrome, Mucopolysaccharidosis, Type I, Hurler-Scheie syndrome, Mucopolysaccharidosis Ih, 607014, Mucopolysaccharidosis type 1H
R-numbers: R100
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
607016, Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014, 607014
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Ih 607014, Mucopolysaccharidosis Is 607016, Mucopolysaccharidosis Ih/s 607015