KEGG DISEASE: Retinitis pigmentosa with skeletal anomalies

DISEASE: Retinitis pigmentosa with skeletal anomalies

Entry

H02422                      Disease

Name

Retinitis pigmentosa with skeletal anomalies

Description

Retinitis pigmentosa with skeletal anomalies (RPSKA) is a rare autosomal recessive syndrome characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects. It has been reported that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated retinitis pigmentosa to severe syndromic forms.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD21  Syndromes with eye anomalies as a major feature
    H02422  Retinitis pigmentosa with skeletal anomalies

Gene

CWC27 [HSA:10283] [KO:K12737]

Other DBs

ICD-11:

LD21.Y

OMIM:

250410

Reference

PMID:7252997

Authors

Phillips CI, Wynne-Davies R, Stokoe NL, Newton M

Title

Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.

Journal

J Med Genet 18:46-9 (1981)
DOI:10.1136/jmg.18.1.46

Reference

PMID:28285769

Authors

Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschke P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF

Title

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Journal

Am J Hum Genet 100:592-604 (2017)
DOI:10.1016/j.ajhg.2017.02.008

LinkDB

» Japanese version

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