Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Knobloch-Syndrome 1

Das Knobloch-Syndrome 1 ist eine autosomal rezessive Erkrankung, die durch Mutationen im Kollagen XVIII-Gen COL18A1 hervorgerufen wird. Zum klinischen Bild gehören vor allem Augenveränderungen wie hochgradige Myopie, Katarakt, Linsendislokation, vitroretinale Degeneration und Retinablösung. Auch Defekte am Hinterkopf gehören zu diesem Syndrom.

Gliederung

Erbliche Augenerkrankungen und Sehstörungen
Chediak-Higashi-Syndrom
Conjunctivitis lignosa
Fischaugen-Erkrankung
Hereditäres Glaucom
IVIC-Syndrom
Knobloch-Syndrome 1
COL18A1
Lakrimo-aurikulo-dento-digitales Syndrom
Makuladegeneration
Marles-Syndrom
Papillorenales Syndrom
Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen
Retinitis pigmentosa
Syndromische Microphthalmie 6
Tränen- und Speicheldrüsenaplasie
Usher-Syndrom

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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).

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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.

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

OMIM.ORG article

Omim 267750 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz