MCID: KNB001
MIFTS: 31

Knobloch Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

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 MalaCards sources

Aliases & Descriptions for Knobloch Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 1571
ICD10 via Orphanet28 Q15.8
MESH via Orphanet37 C537209
UMLS via Orphanet66 C1849409
UMLS65 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-occipital encephalocele syndrome, is related to knobloch syndrome, type 1 and passos-bueno syndrome, 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, retina and heart, and related mouse phenotypes are vision/eye and skeleton.

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

Wikipedia:68 Knobloch syndrome is a rare genetic disorder 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:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1knobloch syndrome, type 112.6
2passos-bueno syndrome11.3
3leukemia10.4
4pulmonary hypertension10.2
5oculocutaneous albinism10.2
6lymphoblastic leukemia10.2
7prolymphocytic leukemia10.2
8relapsing fever10.2
9post-traumatic stress disorder10.2
10acromegaly10.2
11arthropathy10.2
12vasculitis10.2
13albinism10.2
14tetraploidy10.2
15hypoxia10.2
16congenital aphakia9.7ADAMTS18, COL18A1
17knuckle pads, leuconychia and sensorineural deafness9.5ADAMTS18, 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

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:

33
Eye, Retina, Heart, Lung, Breast

Animal Models for Knobloch Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Knobloch Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1ADAMTS18, COL18A1
2MP:00053909.1ADAMTS18, COL18A1

Publications for Knobloch Syndrome

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Articles related to Knobloch Syndrome:

(show all 24)
idTitleAuthorsYear
1
Neoplastic lesions in CADASIL syndrome: report of an autopsied Japanese case. (26261665)
2015
2
Cytokines and tumor markers in potentially malignant disorders and oral squamous cell carcinoma: a pilot study. (23859102)
2013
3
In vitro apoptosis effects of GnRHII on endometrial stromal cells from patients with endometriosis. (23926453)
2013
4
Prevalence of cleft lip and cleft palate in a tertiary hospital in Eastern Nepal. (22314472)
2012
5
Commentary on "What to measure when determining orthotic needs in children with Down syndrome: a pilot study". (22965201)
2012
6
Lumbosacral epidural lipomatosis due to prolonged steroid intake causing cauda equina syndrome. (20228490)
2010
7
Alternative splicing of SMADs in differentiation and tissue homeostasis. (20148926)
2010
8
The role of endoscopic sinus surgery in the management of sinonasal inverted papilloma. (19225300)
2009
9
ERbeta in breast cancer--onlooker, passive player, or active protector? (18501937)
2008
10
Distribution of the V281L mutation of the CYP21 gene in Israeli congenital adrenal hyperplasia patients and its association with HLA- B14. (17551464)
2006
11
Recombinant CYP3A4*17 is defective in metabolizing the hypertensive drug nifedipine, and the CYP3A4*17 allele may occur on the same chromosome as CYP3A5*3, representing a new putative defective CYP3A haplotype. (15634941)
2005
12
Small cell lung cancer and cancer-associated retinopathy]. (15718005)
2005
13
Expression of a novel matrix metalloproteinase regulator, RECK, and its clinical significance in resected non-small cell lung cancer. (15196549)
2004
14
Identification of a novel inhibitor of breast cell growth that is down-regulated by estrogens and decreased in breast tumors. (12941847)
2003
15
Scanning human gene deserts for long-range enhancers. (14563999)
2003
16
Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities? (11169560)
2001
17
Co-localization of carbon monoxide and nitric oxide synthesizing enzymes in the human urethral sphincter. (10332482)
1999
18
Purification and properties of NAD(P)H: (quinone-acceptor) oxidoreductase of sugarbeet cells. (8536688)
1995
19
Plasminogen activators and plasminogen activator inhibitors in human colorectal carcinoma tissues are not expressed by the tumour cells. (8518031)
1993
20
Angiopathic pathogenesis of clinical manifestations in prolidase deficiency. (1986698)
1991
21
Increased incidence of hypersensitivity to iodine-containing radiographic contrast media after interleukin-2 administration. (2311064)
1990
22
Developmental expression of creatine kinase isozymes in mammalian lens. (2792236)
1989
23
The postcholecystectomy syndrome: diagnostic and therapeutic strategy. (3317780)
1987
24
Unilateral frontal anhidrosis and miosis occurring after petrous apicectomy, Ramadier technic; report of a case. (18111208)
1948

Variations for Knobloch Syndrome

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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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ADAMTS18, COL18A1

GO Terms for genes affiliated with Knobloch Syndrome

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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