MCID: KNB001
MIFTS: 29

Knobloch Syndrome

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Knobloch Syndrome

MalaCards integrated aliases for Knobloch Syndrome:

Name: Knobloch Syndrome 54 26 38 56 74
Retinal Detachment and Occipital Encephalocele 26
Myopia Retinal Detachment Encephalocele 54

Classifications:



Summaries for Knobloch Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Knobloch Syndrome, also known as retinal detachment and occipital encephalocele, is related to knobloch syndrome 1 and retinal detachment, and has symptoms including seizures and unspecified visual loss. 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 retina, eye and skin, and related phenotypes are myopia and retinal detachment

Genetics Home Reference : 26 Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.

Wikipedia : 77 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 1

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

(showing 16, show less)
# Related Disease Score Top Affiliating Genes
1 knobloch syndrome 1 32.5 ADAMTS18 COL18A1 MIR6815 SLC19A1
2 retinal detachment 10.1
3 polymicrogyria 10.1
4 leukemia, acute lymphoblastic 10.0
5 cataract 10.0
6 leukemia 10.0
7 ocular albinism 10.0
8 lymphocytic leukemia 10.0
9 epilepsy 10.0
10 retinal degeneration 10.0
11 albinism 10.0
12 encephalocele 10.0
13 vitreoretinal degeneration 10.0
14 neuronal migration disorders 10.0
15 occipital encephalocele 10.0
16 donnai-barrow syndrome 9.5 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:

33 (showing 24, show less)
# Description HPO Frequency HPO Source Accession
1 myopia 33 hallmark (90%) HP:0000545
2 retinal detachment 33 hallmark (90%) HP:0000541
3 macular degeneration 33 hallmark (90%) HP:0000608
4 occipital encephalocele 33 hallmark (90%) HP:0002085
5 calvarial skull defect 33 hallmark (90%) HP:0001362
6 hydrocephalus 33 frequent (33%) HP:0000238
7 nystagmus 33 frequent (33%) HP:0000639
8 progressive visual loss 33 frequent (33%) HP:0000529
9 vitreoretinopathy 33 frequent (33%) HP:0007773
10 seizures 33 occasional (7.5%) HP:0001250
11 cataract 33 occasional (7.5%) HP:0000518
12 depressed nasal bridge 33 occasional (7.5%) HP:0005280
13 strabismus 33 occasional (7.5%) HP:0000486
14 patent ductus arteriosus 33 occasional (7.5%) HP:0001643
15 joint hyperflexibility 33 occasional (7.5%) HP:0005692
16 epicanthus 33 occasional (7.5%) HP:0000286
17 ectopia lentis 33 occasional (7.5%) HP:0001083
18 vesicoureteral reflux 33 occasional (7.5%) HP:0000076
19 midface retrusion 33 occasional (7.5%) HP:0011800
20 pyloric stenosis 33 occasional (7.5%) HP:0002021
21 dextrocardia 33 occasional (7.5%) HP:0001651
22 lymphangioma 33 occasional (7.5%) HP:0100764
23 bifid ureter 33 occasional (7.5%) HP:0030037
24 abnormal hair morphology 33 occasional (7.5%) HP:0001595

UMLS symptoms related to Knobloch Syndrome:


seizures, unspecified visual loss

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:

42
Retina, Eye, Skin, Brain

Publications for Knobloch Syndrome

Articles related to Knobloch Syndrome:

(showing 33, show less)
# Title Authors Year
1
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree. ( 29977801 )
2018
2
Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome. ( 30765955 )
2018
3
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. ( 28144890 )
2017
4
Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome. ( 27088344 )
2017
5
Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome. ( 28924418 )
2017
6
Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. ( 28950998 )
2017
7
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. ( 29178892 )
2017
8
Molecular and Clinical Findings in Patients With Knobloch Syndrome. ( 27259167 )
2016
9
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. ( 25392994 )
2014
10
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. ( 25456301 )
2014
11
No evidence for locus heterogeneity in Knobloch syndrome. ( 23667181 )
2013
12
The distinct ophthalmic phenotype of Knobloch syndrome in children. ( 22399687 )
2012
13
Cataract surgery in Knobloch syndrome: a case report. ( 21691582 )
2011
14
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. ( 21862674 )
2011
15
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. ( 20799329 )
2010
16
Locus heterogeneity and Knobloch syndrome. ( 20979194 )
2010
17
Knobloch syndrome: novel intra-oral findings. ( 18445000 )
2009
18
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. ( 19390655 )
2009
19
A phenotypic variant of Knobloch syndrome. ( 18484314 )
2008
20
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. ( 17546652 )
2007
21
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. ( 17975799 )
2007
22
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? ( 15714516 )
2005
23
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. ( 14695535 )
2004
24
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. ( 15465551 )
2004
25
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. ( 12707952 )
2003
26
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. ( 12415512 )
2002
27
Knobloch syndrome involving midline scalp defect of the frontal region. ( 10607954 )
2000
28
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). ( 10942434 )
2000
29
Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. ( 9677068 )
1998
30
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. ( 8776601 )
1996
31
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. ( 7802003 )
1994
32
Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. ( 8484411 )
1993
33
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:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 ADAMTS18 COL18A1

GO Terms for Knobloch Syndrome

Sources for Knobloch Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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