Mucopolysaccharidosis Iii malady

NIH Rare Diseases: Mucopolysaccharidosis type III (MPS III) is a genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS III is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS III live into their teenage years, and some live longer. MPS III is divided into four subtypes, known as A, B, C and D. Each subtype is caused by the alteration of a different enzyme needed to completely break down heparan sulfate. The different types of MPS III have similar signs and symptoms, although type A is the most severe. To view the GARD pages on the subtypes of MPS III, click on the following links: Mucopolysaccharidosis type IIIA Mucopolysaccharidosis type IIIB Mucopolysaccharidosis type IIIC Mucopolysaccharidosis type IIID³⁰

MalaCards: Mucopolysaccharidosis Iii, also known as mucopolysaccharidosis type iiia, is related to mucopolysaccharidosis and lysosomal storage disease. An important gene associated with Mucopolysaccharidosis Iii is SGSH (N-sulfoglucosamine sulfohydrolase), and among its related pathways are Glycosaminoglycan degradation and MPS IIIC - Sanfilippo syndrome C. The compounds lithium and glycosaminoglycan have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and b cells.

Genetics Home Reference: Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).¹⁷

Wikipedia: Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal...⁴⁴ more...

Aliases & Descriptions:

mucopolysaccharidosis iii 6 8 43 mucopolysaccharidosis type iiia 6 30 16 mucopolysaccharidosis type iiib 6 30 16 mucopolysaccharidosis type iii 6 30 17 sanfilippo syndrome b 6 30 16 sanfilippo syndrome a 6 30 16 sanfilippo syndrome 7 30 17 mps iiia 30 16 32 n-acetyl-alpha-d-glucosaminidase deficiency 6 30 heparan sulfate sulfatase deficiency 6 30 mps iii b 32 43 mps iiib 30 16 n-sulphoglucosamine sulphohydrolase deficiency 6

mucopolysaccharidosis, mps-iii-b (disorder) 6 mucopoly-saccharidosis type 3b 30 mucopoly-saccharidosis type 3a 30 mucopolysaccharidosis, mps-iii 6 mucopoly-saccharidosis type 3 30 mucopolysaccharidoses 43 sanfilippo's syndrome 6 sanfilippos syndrome 32 naglu deficiency 6 mps iii a 43 mps iii 17 mps 3a 30 mps 3b 30

Disease types for mucopolysaccharidosis family:

mucopolysaccharidosis vi	mucopolysaccharidosis i
mucopolysaccharidosis vii	mucopolysaccharidosis iv
mucopolysaccharidosis iii	mucopolysaccharidosis ii
mucopolysaccharidosis ih	mucopolysaccharidosis ivb
mucopolysaccharidosis type iiid	mucopolysaccharidosis type ix
mucopolysaccharidosis type iiic	mucopolysaccharidosis type iiib (sanfilippo b)
mucopolysaccharidosis type vi (maroteaux-lamy)	mucopolysaccharidosis type ivb (morquio)
mucopolysaccharidosis type iiic (sanfilippo c)

Diseases related to mucopolysaccharidosis iii by text searches and GeneDecks gene sharing:

(show all 28)

id	Related Disease	Score	Top Affiliating Genes
1	mucopolysaccharidosis	28.9	SGSH, NAGLU, HSD17B13, HGSNAT
2	lysosomal storage disease	12.3	SGSH, NAGLU
3	mucopolysaccharidosis type iiib (sanfilippo b)	8.6
4	mucopolysaccharidosis vi	7.9
5	mucopolysaccharidosis type iiid	7.1
6	mucopolysaccharidosis type iiic	7.1
7	neurologic diseases	6.8
8	carcinoma	6.5
9	hepatocellular carcinoma	6.5
10	mucopolysaccharidosis vii	6.4
11	heparane sulfamidase deficiency	6.2
12	mucopolysaccharidosis type iiic (sanfilippo c)	6.2
13	tauopathy	6.2
14	wilson disease	6.2
15	morquio syndrome b	5.9
16	cataract	5.6
17	prostate cancer	5.6
18	prostatitis	5.6
19	mucopolysaccharidosis iv	5.4
20	mucopolysaccharidosis ii	5.4
21	mucopolysaccharidosis ih	5.4
22	mucopolysaccharidosis ivb	5.4
23	neurodegeneration	5.4
24	zellweger syndrome	5.4
25	beta-ketothiolase deficiency	5.4
26	craniofacial abnormalities	5.4
27	ketothiolase deficiency	5.4
28	mucopolysaccharidosis i	5.4

Approved drugs:

Drug clinical trials:

Genetic tests related to mucopolysaccharidosis iii:

id	Genetic test	Affiliating Genes
1	Mucopolysaccharidosis Iii clinical/research	SGSH, NAGLU

MalaCards organs/tissues related to mucopolysaccharidosis iii:

²²

Articles related to mucopolysaccharidosis iii:

id	Title	Authors	Year	Affiliating Genes
1	Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. (19823584)	Feldhammer M.... Pshezhetsky A.V.	2009	NAGLU, HGSNAT
2	Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. (15902564)	Bekri S.... Froissart R.	2005	SGSH
3	Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. (10094189)	Weber B.... Hopwood J.J.	1999	NAGLU
4	Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). (8776591)	Weber B.... Hopwood J.J.	1996	NAGLU, HSD17B13

Genes related to mucopolysaccharidosis iii according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SGSH	N-sulfoglucosamine sulfohydrolase	11.0	Publications
2	ZSCAN1	zinc finger and SCAN domain containing 1	11.0	Disorders
3	HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	11.0	Publications
4	HSD17B13	hydroxysteroid (17-beta) dehydrogenase 13	11.0	Publications
5	XYLT2	xylosyltransferase II	11.0	Disorders
6	NAGLU	N-acetylglucosaminidase, alpha	11.0	Publications
7	ARMC9	armadillo repeat containing 9	11.0	Disorders

Pathways related to mucopolysaccharidosis iii according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Glycosaminoglycan degradation20	8.8	SGSH, NAGLU, HGSNAT
2	MPS IIIC - Sanfilippo syndrome C38	8.7	SGSH, NAGLU, HGSNAT
3	Lysosome20	8.5	HGSNAT, NAGLU, SGSH
4	Metabolic pathways20	8.2	SGSH, NAGLU, XYLT2, HGSNAT

Compounds related to mucopolysaccharidosis iii according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	lithium32 34 9 18 9	13.1	NAGLU, HSD17B13
2	glycosaminoglycan32	8.4	SGSH, NAGLU, XYLT2
3	heparan sulfate32 18	9.1	SGSH, NAGLU, XYLT2, HGSNAT

Cellular components related to mucopolysaccharidosis iii according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal lumen	GO:043202	9.3	SGSH, NAGLU

Biological processes related to mucopolysaccharidosis iii according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	carbohydrate metabolic process	GO:005975	8.8	SGSH, NAGLU, HGSNAT
2	glycosaminoglycan catabolic process	GO:006027	8.7	SGSH, NAGLU, HGSNAT
3	glycosaminoglycan metabolic process	GO:030203	8.5	SGSH, NAGLU, HGSNAT