MCID: KNB001
MIFTS: 28

Knobloch Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Knobloch Syndrome

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Aliases & Descriptions for Knobloch Syndrome:

Name: Knobloch Syndrome 48 25 50 68
Retinal Detachment and Occipital Encephalocele 25
 
Myopia Retinal Detachment Encephalocele 48

Classifications:



Summaries for Knobloch Syndrome

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NIH Rare Diseases:48 Knobloch syndrome is characterized by severe vision problems and skull defects. the most common features include extreme nearsightedness (high myopia), recurrent retinal detachment, and occipital encephalocele. there are three types of knobloch syndrome, which can be distinguished by the underlying genetic cause. knobloch syndrome type i is caused by mutations in the col18a1 gene. the genes associated with knobloch syndrome type 2 and type 3 have not been identified; however, knobloch syndrome type 3 has been linked to a specific region on chromosome 17, known as 17q11.2. knobloch syndrome follows an autosomal recessive pattern of inheritance. treatment is aimed at addressing the symptoms present in each individual and may include surgery to repair retinal detachments and occiptal encephaloceles. last updated: 10/18/2016

MalaCards based summary: Knobloch Syndrome, also known as retinal detachment and occipital encephalocele, is related to knobloch syndrome, type 1 and passos-bueno syndrome, and has symptoms including seizures, unspecified visual loss and vesicoureteral reflux. An important gene associated with Knobloch Syndrome is COL18A1 (Collagen Type XVIII Alpha 1 Chain), and among its related pathways is Degradation of the extracellular matrix. Affiliated tissues include eye, retina and skin, and related mouse phenotype vision/eye.

Genetics Home Reference:25 Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.

Wikipedia:71 Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in... more...

Related Diseases for Knobloch Syndrome

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Diseases in the Knobloch Syndrome family:

Knobloch Syndrome, Type 1

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1knobloch syndrome, type 112.2
2passos-bueno syndrome10.8
3scurvy9.8ADAMTS18, COL18A1
4cataract9.7
5leukemia9.7
6lymphoblastic leukemia9.7
7neuronitis9.7
8encephalocele9.7
9vitreoretinal degeneration9.7
10neuronal migration disorders9.7
11occipital encephalocele9.7
12kozlowski ouvrier syndrome9.7ADAMTS18, COL18A1

Graphical network of diseases related to Knobloch Syndrome:



Diseases related to knobloch syndrome

Symptoms & Phenotypes for Knobloch Syndrome

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Human phenotypes related to Knobloch Syndrome:

 64 (show all 25)
id Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux64 HP:0000076
2 hydrocephalus64 HP:0000238
3 epicanthus64 HP:0000286
4 strabismus64 HP:0000486
5 cataract64 HP:0000518
6 progressive visual loss64 HP:0000529
7 retinal detachment64 HP:0000541
8 myopia64 HP:0000545
9 macular degeneration64 HP:0000608
10 nystagmus64 HP:0000639
11 vitreoretinal degeneration64 HP:0000655
12 ectopia lentis64 HP:0001083
13 seizures64 HP:0001250
14 calvarial skull defect64 HP:0001362
15 abnormality of the hair64 HP:0001595
16 patent ductus arteriosus64 HP:0001643
17 dextrocardia64 HP:0001651
18 pyloric stenosis64 HP:0002021
19 occipital encephalocele64 HP:0002085
20 abnormality of the vitreous humor64 HP:0004327
21 depressed nasal bridge64 HP:0005280
22 joint hyperflexibility64 HP:0005692
23 midface retrusion64 HP:0011800
24 bifid ureter64 HP:0030037
25 lymphangioma64 HP:0100764

UMLS symptoms related to Knobloch Syndrome:


seizures, unspecified visual loss

MGI Mouse Phenotypes related to Knobloch Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1ADAMTS18, COL18A1

Drugs & Therapeutics for Knobloch Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Dupuytren's Disease and Extracorporeal Shockwave Therapy (DupuyShock-2010)Unknown statusNCT01184586Phase 2

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:

36
Eye, Retina, Skin, Brain

Publications for Knobloch Syndrome

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Articles related to Knobloch Syndrome:

(show all 26)
idTitleAuthorsYear
1
Molecular and Clinical Findings in Patients With Knobloch Syndrome. (27259167)
2016
2
Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome. (27088344)
2016
3
Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. (25392994)
2014
4
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. (25456301)
2014
5
No evidence for locus heterogeneity in Knobloch syndrome. (23667181)
2013
6
The distinct ophthalmic phenotype of Knobloch syndrome in children. (22399687)
2012
7
Cataract surgery in Knobloch syndrome: a case report. (21691582)
2011
8
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. (21862674)
2011
9
Locus heterogeneity and Knobloch syndrome. (20979194)
2010
10
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. (20799329)
2010
11
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. (19390655)
2009
12
Knobloch syndrome: novel intra-oral findings. (18445000)
2009
13
A phenotypic variant of Knobloch syndrome. (18484314)
2008
14
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (17546652)
2007
15
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. (17975799)
2007
16
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? (15714516)
2005
17
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. (15465551)
2004
18
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. (14695535)
2004
19
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. (12707952)
2003
20
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. (12415512)
2002
21
Knobloch syndrome involving midline scalp defect of the frontal region. (10607954)
2000
22
Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. (9677068)
1998
23
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. (8776601)
1996
24
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. (7802003)
1994
25
Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. (8484411)
1993
26
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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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ADAMTS18, COL18A1

GO Terms for genes affiliated with Knobloch Syndrome

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Cellular components related to Knobloch Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.8ADAMTS18, COL18A1
2proteinaceous extracellular matrixGO:00055789.1ADAMTS18, COL18A1

Sources for Knobloch Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet