Knobloch syndrome

Common Name(s)

Knobloch syndrome

Knobloch syndrome is characterized by severe nearsightedness (myopia), recurrent retinal detachment, and encephalocele. This condition has an autosomal recessive pattern of inheritance. There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. The condition is called Knobloch syndrome type I when it is caused by mutations in the COL18A1 gene. The genes associated with Knobloch syndrome type II and type III have not been identified; however, Knobloch syndrome type III has been linked to a specific region on chromosome 17, known as 17q11.2.
 

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Condition Specific Organizations

Following organizations serve the condition "Knobloch syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Knobloch syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
 

Author(s): Alireza Haghighi, Amit Tiwari, Niloofar Piri, Gudrun Nürnberg, Nasrollah Saleh-Gohari, Amirreza Haghighi, John Neidhardt, Peter Nürnberg, Wolfgang Berger

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The aim of this study was to identify the genetic basis of a chorioretinal dystrophy with high myopia of unknown origin in a child of a consanguineous marriage. The proband and ten family members of Iranian ancestry participated in this study. Linkage analysis was carried out with ...

Last Updated: 14 Nov 2014

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Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia.
 

Author(s): Vinit B Mahajan, Ann Haskins Olney, Penny Garrett, Ajit Chary, Ecaterina Dragan, Gary Lerner, Jeffrey Murray, Alexander G Bassuk

Journal: Am. J. Med. Genet. A. 2010 Nov;152A(11):2875-9.

 

Knobloch syndrome (KNO) is caused by mutations in the collagen XVIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. Here, we report an El Salvadorian family where two sisters showed features of KNO. One of the siblings also developed acute lymphoblastic ...

Last Updated: 27 Oct 2010

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Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
 

Author(s): O T Suzuki, A L Sertié, V M Der Kaloustian, F Kok, M Carpenter, J Murray, A E Czeizel, S E Kliemann, S Rosemberg, M Monteiro, B R Olsen, M R Passos-Bueno

Journal: Am. J. Hum. Genet.. 2002 Dec;71(6):1320-9.

 

Knobloch syndrome (KS) is a rare disease characterized by severe ocular alterations, including vitreoretinal degeneration associated with retinal detachment and occipital scalp defect. The responsible gene, COL18A1, has been mapped to 21q22.3, and, on the basis of the analysis of ...

Last Updated: 27 Nov 2002

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Knobloch syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.
 

Author(s): Ahmet Okay Caglayan, Jacob F Baranoski, Fesih Aktar, Wengi Han, Beyhan Tuysuz, Aslan Guzel, Bulent Guclu, Hande Kaymakcalan, Berrin Aktekin, Gozde Tugce Akgumus, Phillip B Murray, Emine Z Erson-Omay, Caner Caglar, Mehmet Bakircioglu, Yildirim Bayezit Sakalar, Ebru Guzel, Nihat Demir, Oguz Tuncer, Senem Senturk, Baris Ekici, Frank J Minja, Nenad Šestan, Katsuhito Yasuno, Kaya Bilguvar, Huseyin Caksen, Murat Gunel

Journal: Pediatr. Neurol.. 2014 Dec;51(6):806-813.e8.

 

Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, and cutis aplasia). Although there is clear heterogeneity in clinical presentation, ...

Last Updated: 3 Dec 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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