MCID: KNB001
MIFTS: 24

Knobloch Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories
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Summaries for Knobloch Syndrome

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NIH Rare Diseases:42 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. last updated: 4/5/2010

MalaCards based summary: Knobloch Syndrome, also known as retinal detachment and occipital encephalocele, is related to knobloch syndrome type i and acute lymphoblastic leukemia. An important gene associated with Knobloch Syndrome is COL18A1 (collagen, type XVIII, alpha 1), and among its related pathways is Degradation of the extracellular matrix. Affiliated tissues include eye, retina and skin.

Genetics Home Reference:21 Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.

Wikipedia:65 Knobloch syndrome is a rare genetic condition presenting severe eyesight problems and often a defect in... more...

Aliases & Classifications for Knobloch Syndrome

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Knobloch Syndrome, Aliases & Descriptions:

Name: Knobloch Syndrome 42 21 44 62
Retinal Detachment and Occipital Encephalocele 21
 
Myopia Retinal Detachment Encephalocele 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Related Diseases for Knobloch Syndrome

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Diseases in the Knobloch Syndrome Type I family:

knobloch syndrome

Diseases related to Knobloch Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1knobloch syndrome type i10.5
2acute lymphoblastic leukemia10.1
3cataract10.1
4leukemia10.1
5neuronitis10.1
6lymphoblastic leukemia10.1
7encephalocele10.1
8vitreoretinal degeneration10.1
9neuronal migration disorders10.1
10occipital encephalocele10.1

Graphical network of diseases related to Knobloch Syndrome:



Diseases related to knobloch syndrome

Symptoms for Knobloch Syndrome

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Drugs & Therapeutics for Knobloch Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Knobloch Syndrome

Genetic Tests for Knobloch Syndrome

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Anatomical Context for Knobloch Syndrome

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MalaCards organs/tissues related to Knobloch Syndrome:

32
Eye, Retina, Skin

Animal Models for Knobloch Syndrome or affiliated genes

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Publications for Knobloch Syndrome

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Articles related to Knobloch Syndrome:

(show all 23)
idTitleAuthorsYear
1
Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. (25392994)
2014
2
No evidence for locus heterogeneity in Knobloch syndrome. (23667181)
2013
3
The distinct ophthalmic phenotype of Knobloch syndrome in children. (22399687)
2012
4
Cataract surgery in Knobloch syndrome: a case report. (21691582)
2011
5
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. (21862674)
2011
6
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. (20799329)
2010
7
Locus heterogeneity and Knobloch syndrome. (20979194)
2010
8
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. (19390655)
2009
9
Knobloch syndrome: novel intra-oral findings. (18445000)
2009
10
A phenotypic variant of Knobloch syndrome. (18484314)
2008
11
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (17546652)
2007
12
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. (17975799)
2007
13
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? (15714516)
2005
14
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. (14695535)
2004
15
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. (15465551)
2004
16
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. (12707952)
2003
17
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. (12415512)
2002
18
Knobloch syndrome involving midline scalp defect of the frontal region. (10607954)
2000
19
Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. (9677068)
1998
20
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. (8776601)
1996
21
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. (7802003)
1994
22
Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. (8484411)
1993
23
The second report of Knobloch syndrome. (1554013)
1992

Variations for Knobloch Syndrome

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Expression for genes affiliated with Knobloch Syndrome

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Expression patterns in normal tissues for genes affiliated with Knobloch Syndrome

Search GEO for disease gene expression data for Knobloch Syndrome.

Pathways for genes affiliated with Knobloch Syndrome

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Pathways related to Knobloch Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1COL18A1, ADAMTS18

Compounds for genes affiliated with Knobloch Syndrome

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GO Terms for genes affiliated with Knobloch Syndrome

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Products for genes affiliated with Knobloch Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Knobloch Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet