MCID: KNB001
MIFTS: 28

Knobloch Syndrome malady

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

Aliases & Classifications for Knobloch Syndrome

Aliases & Descriptions for Knobloch Syndrome:

Name: Knobloch Syndrome 50 25 52 69
Retinal Detachment and Occipital Encephalocele 25
Myopia Retinal Detachment Encephalocele 50

Classifications:



Summaries for Knobloch Syndrome

NIH Rare Diseases : 50 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, hydrocephalus and nystagmus. An important gene associated with Knobloch Syndrome is COL18A1 (Collagen Type XVIII Alpha 1 Chain), and among its related pathways/superpathways is Degradation of the extracellular matrix. Affiliated tissues include eye, retina and skin, and related phenotype is 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

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)
id Related Disease Score Top Affiliating Genes
1 knobloch syndrome, type 1 12.2
2 passos-bueno syndrome 10.8
3 scurvy 9.8 ADAMTS18 COL18A1
4 cataract 9.7
5 leukemia 9.7
6 lymphoblastic leukemia 9.7
7 neuronitis 9.7
8 encephalocele 9.7
9 vitreoretinal degeneration 9.7
10 neuronal migration disorders 9.7
11 occipital encephalocele 9.7
12 kozlowski ouvrier syndrome 9.7 ADAMTS18 COL18A1

Graphical network of the top 20 diseases related to Knobloch Syndrome:



Diseases related to Knobloch Syndrome

Symptoms & Phenotypes for Knobloch Syndrome

Human phenotypes related to Knobloch Syndrome:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hydrocephalus 32 HP:0000238
3 nystagmus 32 HP:0000639
4 cataract 32 HP:0000518
5 depressed nasal bridge 32 HP:0005280
6 strabismus 32 HP:0000486
7 patent ductus arteriosus 32 HP:0001643
8 joint hyperflexibility 32 HP:0005692
9 epicanthus 32 HP:0000286
10 progressive visual loss 32 HP:0000529
11 myopia 32 HP:0000545
12 retinal detachment 32 HP:0000541
13 ectopia lentis 32 HP:0001083
14 vesicoureteral reflux 32 HP:0000076
15 macular degeneration 32 HP:0000608
16 midface retrusion 32 HP:0011800
17 pyloric stenosis 32 HP:0002021
18 abnormality of the vitreous humor 32 HP:0004327
19 abnormality of the hair 32 HP:0001595
20 dextrocardia 32 HP:0001651
21 lymphangioma 32 HP:0100764
22 vitreoretinal degeneration 32 HP:0000655
23 occipital encephalocele 32 HP:0002085
24 bifid ureter 32 HP:0030037
25 calvarial skull defect 32 HP:0001362

UMLS symptoms related to Knobloch Syndrome:


seizures, unspecified visual loss

MGI Mouse Phenotypes related to Knobloch Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 ADAMTS18 COL18A1

Drugs & Therapeutics for Knobloch Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Dupuytren's Disease and Extracorporeal Shockwave Therapy (DupuyShock-2010) Unknown status NCT01184586 Phase 2

Search NIH Clinical Center for Knobloch Syndrome

Genetic Tests for Knobloch Syndrome

Anatomical Context for Knobloch Syndrome

MalaCards organs/tissues related to Knobloch Syndrome:

39
Eye, Retina, Skin, Brain

Publications for Knobloch Syndrome

Articles related to Knobloch Syndrome:

(show all 26)
id Title Authors Year
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

Expression for Knobloch Syndrome

Search GEO for disease gene expression data for Knobloch Syndrome.

Pathways for Knobloch Syndrome

Pathways related to Knobloch Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 ADAMTS18 COL18A1

GO Terms for Knobloch Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 8.96 ADAMTS18 COL18A1
2 extracellular matrix GO:0031012 8.62 ADAMTS18 COL18A1

Sources for Knobloch Syndrome

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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48 NDF-RT
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52 Novoseek
54 OMIM
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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