| Spondyloepimetaphyseal dysplasia, Pakistani type | |
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| Other names | Spondyloepimetaphyseal dysplasia, PAPSS2 type |
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| Spondyloepimetaphyseal dysplasia, Pakistani type is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics |
Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2 (also known as "ATPSK2"). The condition is rare.
Genetics
This condition is inherited in an autosomal recessive fashion. It is due to mutations in the Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) gene which is located on the long arm of chromosome 10 (10q23.2-q23.31).
Treatment
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History
This condition was first described in a large eight generation consanguineous Pakistani family.
The causative mutation was identified in 1998.
References
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Spondyloepimetaphyseal dysplasia, PAPSS2 type". www.orpha.net. Retrieved 8 April 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - Faiyaz ul Haque M, King LM, Krakow D, et al. (October 1998). "Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse". Nat. Genet. 20 (2): 157–62. doi:10.1038/2458. PMID 9771708.
- "Symbol report for PAPSS2". HUGO Gene Nomenclature Committee.
- Ahmad M, Haque MF, Ahmad W, et al. (August 1998). "Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred". Am. J. Med. Genet. 78 (5): 468–73. doi:10.1002/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D. PMID 9714015.
External links
| Classification | D |
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| Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Mucopolysaccharidoses) | |
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| Catabolism | |