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:
41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Knobloch Syndrome, Aliases & Descriptions:

Name: Knobloch Syndrome 41 21 43 47 60
Retinal Detachment - Occipital Encephalocele 41 47
Knobloch-Layer Syndrome 41 47
 
Retinal Detachment and Occipital Encephalocele 21
Myopia Retinal Detachment Encephalocele 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

47
knobloch syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 1571
MESH via Orphanet34 C537209
ICD10 via Orphanet26 Q15.8
UMLS via Orphanet61 C1849409

Summaries for Knobloch Syndrome

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NIH Rare Diseases:41 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 - occipital encephalocele, is related to knobloch syndrome, type 1 and cataract, and has symptoms including retinal detachment, myopia and abnormality 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, retina and heart.

Genetics Home Reference:21 Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.

Wikipedia:63 Knobloch syndrome is a rare genetic condition presenting severe eyesight problems and often a defect in... more...

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:

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

Graphical network of diseases related to Knobloch Syndrome:



Diseases related to knobloch syndrome

Symptoms for Knobloch Syndrome

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Symptoms:

 47 (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

HPO human phenotypes related to Knobloch Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 retinal detachment hallmark (90%) HP:0000541
2 myopia hallmark (90%) HP:0000545
3 abnormality of the macula hallmark (90%) HP:0001103
4 skull defect hallmark (90%) HP:0001362
5 encephalocele hallmark (90%) HP:0002084
6 hydrocephalus typical (50%) HP:0000238
7 visual impairment typical (50%) HP:0000505
8 nystagmus typical (50%) HP:0000639
9 abnormality of the vitreous humor typical (50%) HP:0004327
10 vesicoureteral reflux occasional (7.5%) HP:0000076
11 malar flattening occasional (7.5%) HP:0000272
12 epicanthus occasional (7.5%) HP:0000286
13 strabismus occasional (7.5%) HP:0000486
14 cataract occasional (7.5%) HP:0000518
15 ectopia lentis occasional (7.5%) HP:0001083
16 seizures occasional (7.5%) HP:0001250
17 joint hypermobility occasional (7.5%) HP:0001382
18 patent ductus arteriosus occasional (7.5%) HP:0001643
19 situs inversus totalis occasional (7.5%) HP:0001696
20 pyloric stenosis occasional (7.5%) HP:0002021
21 depressed nasal bridge occasional (7.5%) HP:0005280
22 lymphangioma occasional (7.5%) HP:0100764

Drugs & Therapeutics for Knobloch Syndrome

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Drug clinical trials:

Search ClinicalTrials for Knobloch Syndrome

Search NIH Clinical Center for Knobloch Syndrome

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:

31
Eye, Retina, Heart, Brain, Skin

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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1COL18A1COL18A1, IVS1, A-T, -2single nucleotide variantPathogenic
2COL18A1COL18A1, 2-BP DEL, 3514CTdeletionPathogenic
3COL18A1COL18A1, 1-BP INSinsertionPathogenic
4COL18A1NM_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
8COL18A1NM_030582.3(COL18A1): c.4054_4055delCT (p.Leu1352Valfs)deletionPathogenicrs398122391GRCh37Chr 21, 46930005: 46930006
9COL18A1NM_130445.2(COL18A1): c.2118dupC (p.Gly707Argfs)duplicationPathogenicGRCh37Chr 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
9.1COL18A1, ADAMTS18

Compounds for genes affiliated with Knobloch Syndrome

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GO Terms for genes affiliated with Knobloch Syndrome

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Products for genes affiliated with Knobloch Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Knobloch Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet