MCID: KNB001
MIFTS: 30

Knobloch Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Knobloch Syndrome

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Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Knobloch Syndrome:

Name: Knobloch Syndrome 45 23 47 51 65
Retinal Detachment and Occipital Encephalocele 23
Retinal Detachment - Occipital Encephalocele 51
 
Myopia Retinal Detachment Encephalocele 45
Knobloch-Layer Syndrome 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
knobloch syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 1571
ICD10 via Orphanet28 Q15.8
MESH via Orphanet37 C537209
UMLS via Orphanet66 C1849409

Summaries for Knobloch Syndrome

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NIH Rare Diseases:45 Knobloch syndrome is characterized by severe nearsightedness (myopia), recurrent retinal detachment, and encephalocele. this condition has an autosomal recessive pattern of inheritance. there are three types of knobloch syndrome, which can be distinguished by the underlying genetic cause. the condition is called knobloch syndrome type i when it is caused by mutations in the col18a1 gene. the genes associated with knobloch syndrome type ii and type iii have not been identified; however, knobloch syndrome type iii has been linked to a specific region on chromosome 17, known as 17q11.2. last updated: 4/5/2010

MalaCards based summary: Knobloch Syndrome, also known as retinal detachment and occipital encephalocele, is related to knobloch syndrome, type 1 and cataract, and has symptoms including scalp/skull defect, retinal detachment and macular dystrophy/absence/hypoplasia of the macula. An important gene associated with Knobloch Syndrome is COL18A1 (Collagen, Type XVIII, Alpha 1), and among its related pathways is Degradation of the extracellular matrix. Affiliated tissues include eye, heart and skin.

Genetics Home Reference:23 Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.

Related Diseases for Knobloch Syndrome

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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 11)
idRelated DiseaseScoreTop Affiliating Genes
1knobloch syndrome, type 110.6
2cataract10.1
3leukemia10.1
4neuronitis10.1
5lymphoblastic leukemia10.1
6encephalocele10.1
7passos-bueno syndrome10.1
8vitreoretinal degeneration10.1
9neuronal migration disorders10.1
10occipital encephalocele10.1
11knuckle pads, leuconychia and sensorineural deafness9.8ADAMTS18, COL18A1

Graphical network of diseases related to Knobloch Syndrome:



Diseases related to knobloch syndrome

Symptoms for Knobloch Syndrome

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Symptoms:

 51 (show all 25)
  • scalp/skull defect
  • retinal detachment
  • macular dystrophy/absence/hypoplasia of the macula
  • myopia
  • encephalocele/exencephaly
  • autosomal recessive inheritance
  • vitreous anomalies/hyalitis/persistent vitreous vascularisation
  • visual loss/blindness/amblyopia
  • nystagmus
  • hydrocephaly
  • mid-facial hypoplasia/short/small midface
  • cataract/lens opacification
  • lens dislocation/luxation/subluxation/ectopia lentis
  • strabismus/squint
  • epicanthic folds
  • depressed nasal bridge
  • hair and scalp anomalies
  • gastric/pyloric stenosis
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • patent ductus arteriosus
  • lymphangioma/lymphatic malformations
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • vesicorenal/vesicoureteral reflux
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hyperextensible joints/articular hyperlaxity

Drugs & Therapeutics for Knobloch Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Dupuytren's Disease and Extracorporeal Shockwave Therapy (DupuyShock-2010)RecruitingNCT01184586Phase 2

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Genetic Tests for Knobloch Syndrome

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Anatomical Context for Knobloch Syndrome

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MalaCards organs/tissues related to Knobloch Syndrome:

33
Eye, Heart, Skin, Brain

Animal Models for Knobloch Syndrome or affiliated genes

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Publications for Knobloch Syndrome

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Articles related to Knobloch Syndrome:

(show all 24)
idTitleAuthorsYear
1
Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. (25392994)
2014
2
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. (25456301)
2014
3
No evidence for locus heterogeneity in Knobloch syndrome. (23667181)
2013
4
The distinct ophthalmic phenotype of Knobloch syndrome in children. (22399687)
2012
5
Cataract surgery in Knobloch syndrome: a case report. (21691582)
2011
6
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. (21862674)
2011
7
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. (20799329)
2010
8
Locus heterogeneity and Knobloch syndrome. (20979194)
2010
9
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. (19390655)
2009
10
Knobloch syndrome: novel intra-oral findings. (18445000)
2009
11
A phenotypic variant of Knobloch syndrome. (18484314)
2008
12
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (17546652)
2007
13
Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. (17975799)
2007
14
How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? (15714516)
2005
15
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. (14695535)
2004
16
Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. (15465551)
2004
17
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. (12707952)
2003
18
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. (12415512)
2002
19
Knobloch syndrome involving midline scalp defect of the frontal region. (10607954)
2000
20
Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. (9677068)
1998
21
A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. (8776601)
1996
22
Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. (7802003)
1994
23
Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. (8484411)
1993
24
The second report of Knobloch syndrome. (1554013)
1992

Variations for Knobloch Syndrome

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Clinvar genetic disease variations for Knobloch Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL18A1COL18A1, IVS1, A-T, -2single nucleotide variantPathogenic
2COL18A1COL18A1, 2-BP DEL, 3514CTdeletionPathogenic
3COL18A1COL18A1, 1-BP INS, 3363CinsertionPathogenic
4NM_030582.3(COL18A1): c.4309G> A (p.Asp1437Asn)single nucleotide variantPathogenicrs12483377GRCh37Chr 21, 46931109: 46931109
5COL18A1COL18A1, IVS36DS, A-C, +3single nucleotide variantPathogenic
6COL18A1COL18A1, 2-BP DEL, 3617CTdeletionPathogenic
7COL18A1COL18A1, 2-BP DELdeletionPathogenic
8NM_030582.3(COL18A1): c.4054_4055delCT (p.Leu1352Valfs)deletionPathogenicrs398122391GRCh37Chr 21, 46930005: 46930006

Expression for genes affiliated with Knobloch Syndrome

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Search GEO for disease gene expression data for Knobloch Syndrome.

Pathways for genes affiliated with Knobloch Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ADAMTS18, COL18A1

GO Terms for genes affiliated with Knobloch Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.1ADAMTS18, COL18A1

Sources for Knobloch Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet