KEGG   DISEASE: Knobloch syndrome
Entry
H02074                      Disease                                
Name
Knobloch syndrome
  Supergrp
Vitreoretinal degeneration [DS:H00805]
Description
Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations in the COL18A1 gene were identified in KNO families.
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
    H02074  Knobloch syndrome
Gene
(KNO1) COL18A1 [HSA:80781] [KO:K06823]
(KNO2) PAK2 [HSA:5062] [KO:K04410]
Other DBs
ICD-11: LD2F.1Y
MeSH: C537209
OMIM: 267750 618458
Reference
  Authors
Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S
  Title
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.
  Journal
Am J Med Genet A 119A:15-9 (2003)
DOI:10.1002/ajmg.a.20070
Reference
PMID:14695535 (KNO1)
  Authors
Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M
  Title
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
  Journal
Hum Mutat 23:77-84 (2004)
DOI:10.1002/humu.10284
Reference
PMID:33693784 (KNO2)
  Authors
Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuzelova K, Santoni FA
  Title
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
  Journal
Hum Mol Genet 31:1-9 (2021)
DOI:10.1093/hmg/ddab026
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