| H00761 | |
| H number | H00761 |
| Name | SEMD, Pakistani type; Brachyolmia type 4 |
| Description | Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, also known as brachyolmia type 4, is characterized by short, bowed lower limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy. Radiographs show delayed epiphyseal ossification in hips and knees. Nonsense mutation in ATPSK2/PAPSS2 has been reported. |
| Category | Congenital malformation |
| Network | - |
| Gene | PAPSS2 [HSA:9060] [KO:K13811] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.3 ICD-10: Q77.7 MeSH: C567551 OMIM: 612847 |
| Reference | PMID:9714015 AUTHORS Ahmad M, Haque MF, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH TITLE Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. JOURNAL Am J Med Genet 78:468-73 (1998) DOI:10.1002/(SICI)1096-8628(19980806)78:5<468::AID-AJMG13>3.0.CO;2-D PMID:9771708 AUTHORS Faiyaz ul Haque M, King LM, Krakow D, Cantor RM, Rusiniak ME, Swank RT, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn DH TITLE Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. JOURNAL Nat Genet 20:157-62 (1998) DOI:10.1038/2458 PMID:22791835 AUTHORS Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S TITLE PAPSS2 mutations cause autosomal recessive brachyolmia. JOURNAL J Med Genet 49:533-8 (2012) DOI:10.1136/jmedgenet-2012-101039 |