KEGG DISEASE: Kaufman oculocerebrofacial syndrome

DISEASE: Kaufman oculocerebrofacial syndrome

Entry

H02533                      Disease

Name

Kaufman oculocerebrofacial syndrome

Description

Kaufman oculocerebrofacial syndrome (KOS) is a rare developmental disorder characterised by reduced growth, microcephaly, ocular anomalies, distinctive facial features, intellectual disability, and generalised hypotonia. It has been reported that KOS is caused by UBE3B loss of function.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02533  Kaufman oculocerebrofacial syndrome

Pathway

hsa04120

Ubiquitin mediated proteolysis

Gene

UBE3B [HSA:89910] [KO:K10588]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C537013

OMIM:

244450

Reference

PMID:23687348

Authors

Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G

Title

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

Journal

J Med Genet 50:493-9 (2013)
DOI:10.1136/jmedgenet-2012-101405

Reference

PMID:23200864

Authors

Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miro X, White JK, Desir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmuller J, Nurnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nurnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G

Title

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Journal

Am J Hum Genet 91:998-1010 (2012)
DOI:10.1016/j.ajhg.2012.10.011

LinkDB

» Japanese version

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