Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Knobloch syndrome 1

Knobloch syndrome 1 is an autosomal recessive disorder caused by mutations of the collagen gene COL18A1. The clinical picture includes various eye abnormalities, such as high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment. Also found can be occipital skull defects.

Systematic

Hereditary ocular disease and visual impairment
Aplasia of lacrimal and salivary glands
Fish-eye disease
Hereditary glaucoma
IVIC syndrome
Knobloch syndrome 1
COL18A1
Lacrimoauriculodentodigital syndrome
Ligneous conjunctivitis
Macular degeneration
Manitoba oculotrichoanal syndrome
Papillorenal syndrome
Retinitis pigmentosa
Syndromic microphthalmia 6
Usher syndrome

References:

1.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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2.

Menzel O et al. (2004) Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.

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3.

Keren B et al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

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4.

Khaliq S et al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

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5.

Paisán-Ruiz C et al. (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.

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6.

Mahajan VB et al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.

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7.

Joyce S et al. (2010) Locus heterogeneity and Knobloch syndrome.

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8.

Aldahmesh MA et al. (2013) No evidence for locus heterogeneity in Knobloch syndrome.

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9.

Czeizel AE et al. (1992) The second report of Knobloch syndrome.

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10.

Sertié AL et al. (2000) Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

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11.

Pagon RA et al. (1978) Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition.

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12.

Cohen MM et al. (1982) Syndromes with cephaloceles.

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13.

Passos-Bueno MR et al. (1994) Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance.

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14.

Seaver LH et al. (1993) Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome.

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15.

Sertié AL et al. (1996) A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

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16.

Wilson C et al. (1998) Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies.

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17.

Sniderman LC et al. (2000) Knobloch syndrome involving midline scalp defect of the frontal region.

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18.

Kliemann SE et al. (2003) Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.

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19.

Aldahmesh MA et al. (2011) Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.

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20.

OMIM.ORG article

Omim 267750 [^]
Update: April 29, 2019