MCID: KNB001
MIFTS: 32

Knobloch Syndrome

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Knobloch Syndrome

MalaCards integrated aliases for Knobloch Syndrome:

Name: Knobloch Syndrome 52 25 36 54 71
Retinal Detachment-Occipital Encephalocele Syndrome 52
Retinal Detachment and Occipital Encephalocele 25
Myopia Retinal Detachment Encephalocele 52
Knobloch-Layer Syndrome 52

Classifications:



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 : 52 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 : 36 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 : 74 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:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 knobloch syndrome 1 32.6 SLC19A1 COL18A1 ADAMTS18
2 vitreoretinal degeneration 11.7
3 joint laxity, short stature, and myopia 10.7
4 myopia 10.7
5 retinal detachment 10.6
6 encephalocele 10.5
7 autosomal recessive disease 10.4
8 occipital encephalocele 10.4
9 pathologic nystagmus 10.3
10 retinal degeneration 10.2
11 polymicrogyria 10.2
12 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
13 isolated ectopia lentis 10.1
14 meningocele 10.1
15 cataract 10.1
16 vcan-related vitreoretinopathy 10.1
17 hypertelorism 10.0
18 telecanthus 10.0
19 albinism, oculocutaneous, type ia 10.0
20 choroidal dystrophy, central areolar, 1 10.0
21 persistent hyperplastic primary vitreous, autosomal recessive 10.0
22 retinoschisis 1, x-linked, juvenile 10.0
23 glaucoma-related pigment dispersion syndrome 10.0
24 myopia 10 10.0
25 leukemia, acute lymphoblastic 10.0
26 oculocutaneous albinism 10.0
27 ocular albinism 10.0
28 monocular esotropia 10.0
29 lens subluxation 10.0
30 alternating exotropia 10.0
31 exotropia 10.0
32 leukemia 10.0
33 eye disease 10.0
34 macular holes 10.0
35 vitreous detachment 10.0
36 esotropia 10.0
37 albinism 10.0
38 neuronal migration disorders 10.0
39 posttransplant acute limbic encephalitis 10.0
40 fundus dystrophy 9.4 COL18A1 ADAMTS18

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 24)
# Description HPO Frequency HPO Source Accession
1 myopia 31 hallmark (90%) HP:0000545
2 retinal detachment 31 hallmark (90%) HP:0000541
3 macular degeneration 31 hallmark (90%) HP:0000608
4 occipital encephalocele 31 hallmark (90%) HP:0002085
5 calvarial skull defect 31 hallmark (90%) HP:0001362
6 hydrocephalus 31 frequent (33%) HP:0000238
7 progressive visual loss 31 frequent (33%) HP:0000529
8 nystagmus 31 frequent (33%) HP:0000639
9 vitreoretinopathy 31 frequent (33%) HP:0007773
10 cataract 31 occasional (7.5%) HP:0000518
11 depressed nasal bridge 31 occasional (7.5%) HP:0005280
12 strabismus 31 occasional (7.5%) HP:0000486
13 epicanthus 31 occasional (7.5%) HP:0000286
14 ectopia lentis 31 occasional (7.5%) HP:0001083
15 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
16 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
17 joint hyperflexibility 31 occasional (7.5%) HP:0005692
18 pyloric stenosis 31 occasional (7.5%) HP:0002021
19 midface retrusion 31 occasional (7.5%) HP:0011800
20 dextrocardia 31 occasional (7.5%) HP:0001651
21 lymphangioma 31 occasional (7.5%) HP:0100764
22 bifid ureter 31 occasional (7.5%) HP:0030037
23 seizure 31 occasional (7.5%) HP:0001250
24 abnormal hair morphology 31 occasional (7.5%) HP:0001595

UMLS symptoms related to Knobloch Syndrome:


seizures, unspecified visual loss

MGI Mouse Phenotypes related to Knobloch Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 ADAMTS18 COL18A1 SLC19A1

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:

40
Retina, Eye, Bone, Brain, Skin

Publications for Knobloch Syndrome

Articles related to Knobloch Syndrome:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. 61 54
19390655 2009
2
A phenotypic variant of Knobloch syndrome. 61 54
18484314 2008
3
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. 61 54
17546652 2007
4
Physiological role of collagen XVIII and endostatin. 54 61
15857886 2005
5
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. 61 54
14695535 2004
6
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. 61
31896775 2020
7
Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome. 61
32111543 2020
8
Three cases of molecularly confirmed Knobloch syndrome. 61
32178553 2020
9
Optical Coherence Tomography in Knobloch Syndrome. 61
31415705 2019
10
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans. 61
30007336 2018
11
Retinal Detachment After Cyclophotocoagulation in a Child with Knobloch Syndrome. 61
30765955 2018
12
The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome. 61
29388841 2018
13
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree. 61
29977801 2018
14
Knobloch syndrome associated with Polymicrogyria and early onset of retinal detachment: two case reports. 61
29178892 2017
15
Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1. 61
28950998 2017
16
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. 61
28602933 2017
17
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. 61
28144890 2017
18
Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome. 61
27088344 2017
19
Collagen XVIII in tissue homeostasis and dysregulation - Lessons learned from model organisms and human patients. 61
27746220 2017
20
Optical coherence tomography findings and successful repair of retina detachment in Knobloch syndrome. 61
28924418 2017
21
Molecular and Clinical Findings in Patients With Knobloch Syndrome. 61
27259167 2016
22
Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation. 61
24001013 2015
23
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. 61
25456301 2014
24
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. 61
25392994 2014
25
[Paediatric retinal detachment and hereditary vitreoretinal disorders]. 61
23986190 2013
26
No evidence for locus heterogeneity in Knobloch syndrome. 61
23667181 2013
27
Drosophila type XV/XVIII collagen mutants manifest integrin mediated mitochondrial dysfunction, which is improved by cyclosporin A and losartan. 61
23454281 2013
28
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. 61
23356391 2013
29
The distinct ophthalmic phenotype of Knobloch syndrome in children. 61
22399687 2012
30
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. 61
21862674 2011
31
The multiple functions of collagen XVIII in development and disease. 61
21163348 2011
32
Cataract surgery in Knobloch syndrome: a case report. 61
21691582 2011
33
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. 61
20799329 2010
34
Locus heterogeneity and Knobloch syndrome. 61
20979194 2010
35
Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans. 61
21085708 2010
36
Characterization of drCol 15a1b: a novel component of the stem cell niche in the zebrafish retina. 61
20549708 2010
37
Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis. 61
19895802 2010
38
Unexpected matrix diseases and novel therapeutic strategies. 61
19813027 2010
39
Knobloch syndrome: novel intra-oral findings. 61
18445000 2009
40
Syndromes, disorders and maternal risk factors associated with neural tube defects (V). 61
18935987 2008
41
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. 61
17975799 2007
42
Mutations in collagen 18A1 and their relevance to the human phenotype. 61
16532212 2006
43
Endostatin phenylalanines 31 and 34 define a receptor binding site. 61
16115201 2005
44
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? 61
15714516 2005
45
Non-heparan sulfate-binding interactions of endostatin/collagen XVIII in murine development. 61
15614762 2005
46
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. 61
15465551 2004
47
Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line. 61
15254016 2004
48
Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. 61
12912687 2003
49
Age-dependent iris abnormalities in collagen XVIII/endostatin deficient mice with similarities to human pigment dispersion syndrome. 61
12766032 2003
50
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. 61
12707952 2003

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 COL18A1 ADAMTS18

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 extracellular matrix GO:0031012 8.62 COL18A1 ADAMTS18

Biological processes related to Knobloch Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 COL18A1 ADAMTS18

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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