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 53 25 37 55 72
Retinal Detachment-Occipital Encephalocele Syndrome 53
Retinal Detachment and Occipital Encephalocele 25
Myopia Retinal Detachment Encephalocele 53
Knobloch-Layer Syndrome 53

Classifications:



External Ids:

KEGG 37 H02074
UMLS 72 C1849409

Summaries for Knobloch Syndrome

Genetics Home Reference : 25 Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal degeneration, which is breakdown (degeneration) of two structures in the eye called the vitreous and the retina. The vitreous is the gelatin-like substance that fills the eye, and the retina is the light-sensitive tissue at the back of the eye. Vitreoretinal degeneration often leads to separation of the retina from the back of the eye (retinal detachment). Affected individuals may also have abnormalities in the central area of the retina, called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Due to abnormalities in the vitreous, retina, and macula, people with Knobloch syndrome often develop blindness in one or both eyes. Another characteristic feature of Knobloch syndrome is a skull defect called an occipital encephalocele, which is a sac-like protrusion of the brain (encephalocele) through a defect in the bone at the base of the skull (occipital bone). Some affected individuals have been diagnosed with a different skull defect in the occipital region, and it is unclear whether the defect is always a true encephalocele. In other conditions, encephaloceles may be associated with intellectual disability; however, most people with Knobloch syndrome have normal intelligence.

MalaCards based summary : Knobloch Syndrome, also known as retinal detachment-occipital encephalocele syndrome, is related to knobloch syndrome 1 and vitreoretinal degeneration, 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 bone, and related phenotypes are myopia and retinal detachment

NIH Rare Diseases : 53 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.

KEGG : 37
Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations in the COL18A1 gene were identified in KNO families.

Wikipedia : 75 Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in... more...

Related Diseases for Knobloch Syndrome

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 (showing 24, show less)
# Description HPO Frequency HPO Source Accession
1 myopia 32 hallmark (90%) HP:0000545
2 retinal detachment 32 hallmark (90%) HP:0000541
3 macular degeneration 32 hallmark (90%) HP:0000608
4 occipital encephalocele 32 hallmark (90%) HP:0002085
5 calvarial skull defect 32 hallmark (90%) HP:0001362
6 hydrocephalus 32 frequent (33%) HP:0000238
7 nystagmus 32 frequent (33%) HP:0000639
8 progressive visual loss 32 frequent (33%) HP:0000529
9 vitreoretinopathy 32 frequent (33%) HP:0007773
10 seizures 32 occasional (7.5%) HP:0001250
11 cataract 32 occasional (7.5%) HP:0000518
12 depressed nasal bridge 32 occasional (7.5%) HP:0005280
13 strabismus 32 occasional (7.5%) HP:0000486
14 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
15 joint hyperflexibility 32 occasional (7.5%) HP:0005692
16 epicanthus 32 occasional (7.5%) HP:0000286
17 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
18 ectopia lentis 32 occasional (7.5%) HP:0001083
19 midface retrusion 32 occasional (7.5%) HP:0011800
20 pyloric stenosis 32 occasional (7.5%) HP:0002021
21 dextrocardia 32 occasional (7.5%) HP:0001651
22 lymphangioma 32 occasional (7.5%) HP:0100764
23 bifid ureter 32 occasional (7.5%) HP:0030037
24 abnormal hair morphology 32 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:

41
Retina, Eye, Bone, Brain, Skin

Publications for Knobloch Syndrome

Articles related to Knobloch Syndrome:

(showing 61, show less)
# Title Authors PMID Year
1
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. 9 38
19390655 2009
2
A phenotypic variant of Knobloch syndrome. 9 38
18484314 2008
3
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. 9 38
17546652 2007
4
Physiological role of collagen XVIII and endostatin. 9 38
15857886 2005
5
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. 9 38
14695535 2004
6
Optical Coherence Tomography in Knobloch Syndrome. 38
31415705 2019
7
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans. 38
30007336 2018
8
Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome. 38
30765955 2018
9
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome. 38
29388841 2018
10
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree. 38
29977801 2018
11
Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. 38
28950998 2017
12
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. 38
29178892 2017
13
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. 38
28602933 2017
14
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. 38
28144890 2017
15
Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome. 38
27088344 2017
16
Collagen XVIII in tissue homeostasis and dysregulation - Lessons learned from model organisms and human patients. 38
27746220 2017
17
Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome. 38
28924418 2017
18
Molecular and Clinical Findings in Patients With Knobloch Syndrome. 38
27259167 2016
19
Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation. 38
24001013 2015
20
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. 38
25456301 2014
21
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. 38
25392994 2014
22
[Paediatric retinal detachment and hereditary vitreoretinal disorders]. 38
23986190 2013
23
No evidence for locus heterogeneity in Knobloch syndrome. 38
23667181 2013
24
Drosophila type XV/XVIII collagen mutants manifest integrin mediated mitochondrial dysfunction, which is improved by cyclosporin A and losartan. 38
23454281 2013
25
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. 38
23356391 2013
26
The distinct ophthalmic phenotype of Knobloch syndrome in children. 38
22399687 2012
27
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. 38
21862674 2011
28
The multiple functions of collagen XVIII in development and disease. 38
21163348 2011
29
Cataract surgery in Knobloch syndrome: a case report. 38
21691582 2011
30
Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans. 38
21085708 2010
31
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. 38
20799329 2010
32
Locus heterogeneity and Knobloch syndrome. 38
20979194 2010
33
Characterization of drCol 15a1b: a novel component of the stem cell niche in the zebrafish retina. 38
20549708 2010
34
Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis. 38
19895802 2010
35
Unexpected matrix diseases and novel therapeutic strategies. 38
19813027 2010
36
Knobloch syndrome: novel intra-oral findings. 38
18445000 2009
37
Syndromes, disorders and maternal risk factors associated with neural tube defects (V). 38
18935987 2008
38
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. 38
17975799 2007
39
Mutations in collagen 18A1 and their relevance to the human phenotype. 38
16532212 2006
40
Endostatin phenylalanines 31 and 34 define a receptor binding site. 38
16115201 2005
41
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? 38
15714516 2005
42
Non-heparan sulfate-binding interactions of endostatin/collagen XVIII in murine development. 38
15614762 2005
43
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. 38
15465551 2004
44
Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line. 38
15254016 2004
45
Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. 38
12912687 2003
46
Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome. 38
12766032 2003
47
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. 38
12707952 2003
48
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. 38
12415512 2002
49
Lack of collagen XVIII/endostatin results in eye abnormalities. 38
11927538 2002
50
Collagens and collagen-related diseases. 38
11310942 2001
51
[Knobloch syndrome]. 38
11528876 2001
52
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). 38
10942434 2000
53
Knobloch syndrome involving midline scalp defect of the frontal region. 38
10607954 2000
54
Molecular cloning of a novel putative Ca2+ channel protein (TRPC7) highly expressed in brain. 38
9806837 1998
55
Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. 38
9677068 1998
56
Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. 38
9570943 1998
57
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. 38
8776601 1996
58
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. 38
7802003 1994
59
Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. 38
8484411 1993
60
The second report of Knobloch syndrome. 38
1554013 1992
61
Syndromes with cephaloceles. 38
7101196 1982

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 COL18A1 ADAMTS18

GO Terms for Knobloch Syndrome

Sources for Knobloch Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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