Defective PAPSS2 causes SEMD-PA

Stable Identifier
R-HSA-3560796
Type
Pathway
Species
Homo sapiens
Synonyms
Defective PAPSS2 causes spondyloepimetaphyseal dysplasia Pakistani type
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Defects in PAPSS2 cause spondyloepimetaphyseal dysplasia Pakistani type (SEMD-PA; MIM:612847), a bone disease characterized by epiphyseal dysplasia with mild metaphyseal abnormalities. Clinical features include short stature from birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait and enlarged knee joints. Some patients may manifest premature pubarche and hyperandrogenism (Ahmed et al. 1998, Noordam et al. 2009, Miyake et al. 2012).

Literature References
PubMed ID Title Journal Year
22791835 PAPSS2 mutations cause autosomal recessive brachyolmia

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

J. Med. Genet. 2012
9714015 Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred

Ahmad, M, Faiyaz Ul Haque, M, Ahmad, W, Abbas, H, Haque, S, Krakow, D, Rimoin, DL, Lachman, RS, Cohn, DH

Am. J. Med. Genet. 1998
19474428 Inactivating PAPSS2 mutations in a patient with premature pubarche

Noordam, C, Dhir, V, McNelis, JC, Schlereth, F, Hanley, NA, Krone, N, Smeitink, JA, Smeets, R, Sweep, FC, Claahsen-van der Grinten, HL, Arlt, W

N. Engl. J. Med. 2009
Participants
Participant Of
Disease
Name Identifier Synonyms
spondyloepimetaphyseal dysplasia 0080027
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