KEGG   DISEASE: SEMD, Pakistani type
Entry
H00761                      Disease                                

Name
SEMD, Pakistani type;
Brachyolmia type 4
  Supergrp
Brachyolmia [DS:H00522]
Spondyloepimetaphyseal dysplasia [DS:H02187]
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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00761  SEMD, Pakistani type
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00761  SEMD, Pakistani type
Pathway
hsa00230  Purine metabolism
hsa00450  Selenocompound metabolism
hsa00920  Sulfur metabolism
hsa01100  Metabolic pathways
Gene
PAPSS2 [HSA:9060] [KO:K13811]
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
Reference
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
Reference
  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
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