Genes associated with skeletal dysplasia

Gene abbreviation	Full gene name	Inheritance	Disorder name/phenotype*
ACP5	Acid phosphatase 5, tartrate resistant	AR	Spondyloenchondrodysplasia with immune dysregulation
ADA	Adenosine deaminase	AR	Adenosine deaminase deficiency
EXTL3	Exostosin-like glycosyltransferase 3	AR	Immunoskeletal dysplasia with neurodevelopmental abnormalities
PGM3	Phosphoglucomutase 3	AR	Immunodeficiency-vasculitis-myoclonus syndrome
RMRP	RNA component of mitochondrial RNA processing endoribonuclease	AR	Cartilage-hair hypoplasia
SMARCAL1	SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily alike 1	AR	Schimke immunoosseous dysplasia

Clinical signs may be present that warrant evaluation for the presence of primary immunodeficiency. Please note that the above table is not comprehensive.

AR: autosomal recessive; OMIM: Online Mendelian Inheritance in Man.
* The phenotypic descriptions were derived from OMIM phenotype labels.

Graphic 119241 Version 2.0

خرید پکیج

Genes associated with skeletal dysplasia