Knobloch Syndrome malady

NIH Rare Diseases: 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 17q11.2.³⁰

MalaCards: Knobloch Syndrome, also known as retinal detachment and occipital encephalocele, is related to retinal detachment and encephaloceles. An important gene associated with Knobloch Syndrome is COL18A1 (collagen, type XVIII, alpha 1). Affiliated tissues include skin.

Genetics Home Reference: Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.¹⁷

knobloch syndrome 7 30 17 32 43 retinal detachment and occipital encephalocele 17

myopia retinal detachment encephalocele 30 retinal detachment 43

Disease types for knobloch syndrome family:

knobloch syndrome type i

Diseases related to knobloch syndrome by text searches and GeneDecks gene sharing:

(show all 32)

id	Related Disease	Score	Top Affiliating Genes
1	retinal detachment	34.7	COL18A1, ADAMTS18
2	encephaloceles	27.6	ADAMTS18, COL18A1
3	encephalocele	27.5	ADAMTS18, COL18A1
4	vitreoretinal degeneration	12.2	COL18A1, ADAMTS18
5	myopia 6	12.1	COL18A1, ADAMTS18
6	retinitis	11.1
7	proliferative vitreoretinopathy	8.9
8	knobloch syndrome type i	8.4
9	vitreoretinopathy	8.3
10	diabetic retinopathy	7.7
11	proliferative diabetic retinopathy	7.1
12	passos-bueno syndrome	6.3
13	atopic dermatitis	6.2
14	uveitis	6.2
15	central retinal vein occlusion	6.2
16	vasculitis	6.2
17	cataract	6.2
18	weber syndrome	6.2
19	coats disease	6.2
20	wagner syndrome	6.2
21	dermatitis	6.2
22	ehlers-danlos syndrome	6.2
23	exudative vitreoretinopathy	6.2
24	homocysteine	6.2
25	kniest dysplasia	6.2
26	neuronitis	6.2
27	retinopathy of prematurity	6.2
28	retinal disease	6.2
29	retinal vein occlusion	6.2
30	retinoschisis	6.2
31	stickler syndrome	6.2
32	sturge-weber syndrome	6.2

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to knobloch syndrome:

²²

Articles related to knobloch syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. (21862674)	Aldahmesh M.A.... Alkuraya F.S.	2011	ADAMTS18
2	Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. (19390655)	Suzuki O.... Passos-Bueno M.R.	2009	COL18A1
3	A phenotypic variant of Knobloch syndrome. (18484314)	Williams T.A.... Ainsworth J.R.	2008	COL18A1
4	CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (17546652)	Keren B.... Verloes A.	2007	COL18A1
5	Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. (14695535)	Menzel O.... Guipponi M.	2004	COL18A1
6	Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. (15465551)	Duh E.J.... Goldberg M.F.	2004	COL18A1
7	Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. (12415512)	Suzuki O.T.... Passos-Bueno M.R.	2002	COL18A1
8	A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. (8776601)	Sertie A.L.... Passos-Bueno M.R.	1996	COL18A1

Genes related to knobloch syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	COL18A1	collagen, type XVIII, alpha 1	11.1	Publications, Aliases & Descriptions, Summaries
2	ADAMTS18	ADAM metallopeptidase with thrombospondin type 1 motif, 18	11.0	Publications