ACP5

acid phosphatase 5, tartrate resistant
OMIM: 171640
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies, Spondyloenchondrodysplasia with immune dysregulation, 607944, Type 1 interferonopathies, Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections, Autoinflammatory Disorders
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia with immune dysregulation 607944
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia, short stature, SLE, intracranial calcification, spasticity, chilblains, autoimmune haemolytic anaemia, Spondyloenchondrodysplasia with immune dysregulation