MCID: KNB001
MIFTS: 11

Knobloch Syndrome malady

Summaries for Knobloch Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 32MalaCards
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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: Knobloch Syndrome, also known as retinal detachment and occipital encephalocele, is related to knobloch syndrome type i and neuronitis. An important gene associated with Knobloch Syndrome is COL18A1 (collagen, type XVIII, alpha 1).

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

Aliases & Classifications for Knobloch Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 60UMLS
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Aliases & Descriptions:

knobloch syndrome 42 21 44 60
retinal detachment and occipital encephalocele 21
myopia retinal detachment encephalocele 42


Related Diseases for Knobloch Syndrome

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17GeneCards, 18GeneDecks
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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
2neuronitis10.1
3acute leukemia10.1
4cataract10.1
5leukemia10.1
6lymphoblastic leukemia10.1

Graphical network of diseases related to Knobloch Syndrome:



Diseases related to knobloch syndrome

Clinical Features for Knobloch Syndrome

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Drugs & Therapeutics for Knobloch Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Knobloch Syndrome

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Anatomical Context for Knobloch Syndrome

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Animal Models for Knobloch Syndrome or affiliated genes

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Publications for Knobloch Syndrome

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Genetic Variations for Knobloch Syndrome

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Expression for genes affiliated with Knobloch Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Knobloch Syndrome

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Pathways for genes affiliated with Knobloch Syndrome

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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
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  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet