KEGG DISEASE: SEMD, Pakistani type

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 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

Purine metabolism

Selenocompound metabolism

Sulfur metabolism

Gene

PAPSS2 [HSA:9060] [KO:K13811]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

Reference

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

LinkDB

» Japanese version

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