MCID: KNB001
MIFTS: 33

Knobloch Syndrome

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

Aliases & Classifications for Knobloch Syndrome

MalaCards integrated aliases for Knobloch Syndrome:

Name: Knobloch Syndrome 49 24 51 69
Retinal Detachment and Occipital Encephalocele 24
Myopia Retinal Detachment Encephalocele 49

Classifications:



Summaries for Knobloch Syndrome

NIH Rare Diseases : 49 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 1 and passos-bueno syndrome, and has symptoms including vesicoureteral reflux, hydrocephalus and epicanthus. 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 skin, retina and brain, and related phenotype is vision/eye.

Genetics Home Reference : 24 Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.

Related Diseases for Knobloch Syndrome

Diseases in the Knobloch Syndrome family:

Knobloch Syndrome 1

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 knobloch syndrome 1 12.5
2 passos-bueno syndrome 11.4
3 polymicrogyria 9.9
4 polymicrogyria, bilateral temporooccipital 9.9
5 retinitis 9.9
6 neuronitis 9.8
7 retinal degeneration 9.8
8 albinism 9.8
9 encephalocele 9.8
10 vitreoretinal degeneration 9.8
11 retinal detachment 9.8
12 neuronal migration disorders 9.8
13 occipital encephalocele 9.8
14 cataract 9.8
15 leukemia 9.8
16 ocular albinism 9.8
17 lymphoblastic leukemia 9.8
18 epilepsy 9.8

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:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
2 hydrocephalus 31 frequent (33%) HP:0000238
3 epicanthus 31 occasional (7.5%) HP:0000286
4 strabismus 31 occasional (7.5%) HP:0000486
5 cataract 31 occasional (7.5%) HP:0000518
6 progressive visual loss 31 frequent (33%) HP:0000529
7 retinal detachment 31 hallmark (90%) HP:0000541
8 myopia 31 hallmark (90%) HP:0000545
9 macular degeneration 31 hallmark (90%) HP:0000608
10 nystagmus 31 frequent (33%) HP:0000639
11 vitreoretinal degeneration 31 frequent (33%) HP:0000655
12 ectopia lentis 31 occasional (7.5%) HP:0001083
13 seizures 31 occasional (7.5%) HP:0001250
14 calvarial skull defect 31 hallmark (90%) HP:0001362
15 abnormality of the hair 31 occasional (7.5%) HP:0001595
16 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
17 dextrocardia 31 occasional (7.5%) HP:0001651
18 pyloric stenosis 31 occasional (7.5%) HP:0002021
19 occipital encephalocele 31 hallmark (90%) HP:0002085
20 abnormal vitreous humor morphology 31 frequent (33%) HP:0004327
21 depressed nasal bridge 31 occasional (7.5%) HP:0005280
22 joint hyperflexibility 31 occasional (7.5%) HP:0005692
23 midface retrusion 31 occasional (7.5%) HP:0011800
24 bifid ureter 31 occasional (7.5%) HP:0030037
25 lymphangioma 31 occasional (7.5%) HP:0100764

UMLS symptoms related to Knobloch Syndrome:


unspecified visual loss, seizures

MGI Mouse Phenotypes related to Knobloch Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.62 ADAMTS18 COL18A1

Drugs & Therapeutics for Knobloch Syndrome

Search Clinical Trials , NIH Clinical Center for Knobloch Syndrome

Genetic Tests for Knobloch Syndrome

Anatomical Context for Knobloch Syndrome

MalaCards organs/tissues related to Knobloch Syndrome:

38
Skin, Retina, Brain, Eye

Publications for Knobloch Syndrome

Articles related to Knobloch Syndrome:

(show all 30)
# Title Authors Year
1
Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome. ( 28924418 )
2017
2
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
3
Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. ( 28950998 )
2017
4
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. ( 29178892 )
2017
5
Molecular and Clinical Findings in Patients With Knobloch Syndrome. ( 27259167 )
2016
6
Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome. ( 27088344 )
2016
7
Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. ( 25392994 )
2014
8
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. ( 25456301 )
2014
9
No evidence for locus heterogeneity in Knobloch syndrome. ( 23667181 )
2013
10
The distinct ophthalmic phenotype of Knobloch syndrome in children. ( 22399687 )
2012
11
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. ( 21862674 )
2011
12
Cataract surgery in Knobloch syndrome: a case report. ( 21691582 )
2011
13
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. ( 20799329 )
2010
14
Locus heterogeneity and Knobloch syndrome. ( 20979194 )
2010
15
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. ( 19390655 )
2009
16
Knobloch syndrome: novel intra-oral findings. ( 18445000 )
2009
17
A phenotypic variant of Knobloch syndrome. ( 18484314 )
2008
18
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. ( 17546652 )
2007
19
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. ( 17975799 )
2007
20
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? ( 15714516 )
2005
21
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. ( 14695535 )
2004
22
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. ( 15465551 )
2004
23
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. ( 12707952 )
2003
24
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. ( 12415512 )
2002
25
Knobloch syndrome involving midline scalp defect of the frontal region. ( 10607954 )
2000
26
Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. ( 9677068 )
1998
27
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. ( 8776601 )
1996
28
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. ( 7802003 )
1994
29
Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. ( 8484411 )
1993
30
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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 8.62 ADAMTS18 COL18A1

Sources for Knobloch Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....