Mucopolysaccharidosis Ii malady

NIH Rare Diseases: Mucopolysaccharidosis II (MPS II), also commonly known as Hunter syndrome, is a condition that occurs almost exclusively in males. Affected individuals typically have distinctive facial features, a large head, hydrocephalus, an enlarged liver and spleen, umbilical or inguinal hernia, and hearing loss. Individuals with this condition may have joint deformities and heart valve problems. MPS II is caused by mutations in the IDS gene. There are two types of MPS II, called the severe and attenuated types. While both types affect many different parts of the body, people with the severe type also experience a decline in intellectual function and a more rapid disease progression. The life expectancy for people with the severe type is 10 to 20 years. Individuals with the attenuated type typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.³⁰

MalaCards: Mucopolysaccharidosis Ii, also known as mucopolysaccharidosis type ii, is related to mucopolysaccharidosis and lysosomal storage disease. An important gene associated with Mucopolysaccharidosis Ii is IDS (iduronate 2-sulfatase), and among its related pathways are Lysosome and Glycosaminoglycan degradation. The compound heparan sulfate have been mentioned in the context of this disorder. Affiliated tissues include spleen, heart and liver.

Genetics Home Reference: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.¹⁷

Wikipedia: Hunter syndrome, or mucopolysaccharidosis Type II, is a lysosomal storage disease caused by a deficient...⁴⁴ more...

OMIM: 309900

GeneReviews summary for hunter

Aliases & Descriptions:

mucopolysaccharidosis ii 6 7 33 8 43 mucopolysaccharidosis type ii 6 15 30 16 17 iduronate 2-sulfatase deficiency 15 30 16 17 hunter syndrome 15 30 16 17 i2s deficiency 15 30 16 17 mps ii 15 30 17 mps 2 30 16 attenuated mps (subtype; formerly known as mild mps ii) 30

mucopolysaccharidosis, mps-ii (disorder) 6 deficiency of iduronate-2-sulphatase 6 mucopolysaccharidoses 43 hunter's syndrome 6 hunters syndrome 32 severe mps ii 30 malnutrition 43

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 ii by text searches and GeneDecks gene sharing:

(show top 50)    (show all 374)

id	Related Disease	Score	Top Affiliating Genes
1	mucopolysaccharidosis	30.2	IDS, OR52E6, HGSNAT
2	lysosomal storage disease	12.3	IDS, HGSNAT
3	protein-energy malnutrition	8.9
4	mucopolysaccharidosis iii	8.9
5	mucopolysaccharidosis i	8.9
6	mucopolysaccharidosis vii	7.9
7	hurler syndrome	7.8
8	mucopolysaccharidosis iv	7.8
9	mucopolysaccharidosis type iiid	7.8
10	scheie syndrome	7.8
11	hurler-scheie syndrome	7.6
12	peritonitis	7.5
13	mucopolysaccharidosis type iiic	7.4
14	mucopolysaccharidosis vi	7.2
15	carcinoma	7.0
16	hepatocellular carcinoma	6.7
17	bow hunter's stroke	6.7
18	chorea	6.6
19	atherosclerosis	6.5
20	diabetes mellitus	6.5
21	breast cancer	6.3
22	inflammatory bowel disease	6.3
23	melanoma	6.3
24	morquio syndrome b	6.3
25	myeloma	6.3
26	alcoholism	6.3
27	hepatitis	6.3
28	hunter macpherson syndrome	6.1
29	hunter mcdonald syndrome	6.1
30	hunter rudd hoffmann syndrome	6.1
31	anemia	6.0
32	anorexia nervosa	6.0
33	pancreatitis	6.0
34	leukemia	5.8
35	mucopolysaccharidosis type ix	5.8
36	multiple myeloma	5.8
37	osteoarthritis	5.8
38	prostatitis	5.8
39	vasculitis	5.8
40	epidermolysis bullosa simplex with mottled pigmentation	5.8
41	insulin resistance	5.6
42	rickets	5.6
43	uremia	5.6
44	zellweger syndrome	5.4
45	beta-ketothiolase deficiency	5.4
46	craniofacial abnormalities	5.4
47	ketothiolase deficiency	5.4
48	mucopolysaccharidosis ih	5.4
49	mucopolysaccharidosis ivb	5.4
50	neurodegeneration	5.4

Clinical features from OMIM: 309900

Approved drugs:

Drug clinical trials:

Cell-based therapeutics:

Genetic tests related to mucopolysaccharidosis ii:

id	Genetic test	Affiliating Genes
1	Mucopolysaccharidosis Ii clinical/research	IDS

MalaCards organs/tissues related to mucopolysaccharidosis ii:

²²

Articles related to mucopolysaccharidosis ii:

id	Title	Authors	Year	Affiliating Genes
1	Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis II IC. (21957468)	Fan X.... Mahuran D.	2011	HGSNAT
2	Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. (19707363)	Burrow T.A.... Leslie N.D.	2008	IDS
3	Idursulfase for the treatment of mucopolysaccharidosis II. (18201153)	Clarke L.A.	2008	IDS
4	A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). (17185020)	Muenzer J.... Kimura A.	2007	IDS
5	A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). (16912578)	Muenzer J.... Kimura A.	2006	IDS
6	Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis (8685031)	Balzano N.... Di Natale P.	1996	IDS
7	Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). (7981716)	Schroeder W.... Herrmann F.H.	1994	IDS
8	Structural gene aberrations in mucopolysaccharidosis II (Hunter). (1352274)	Wehnert M.... Herrmann F.H.	1992	IDS
9	The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). (1906048)	Wraith J.E.... Hopwood J.J.	1991	IDS

Genes related to mucopolysaccharidosis ii according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	IDS	iduronate 2-sulfatase	11.0	Publications, Disorders
2	HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	11.0	Publications
3	OR52E6	olfactory receptor, family 52, subfamily E, member 6	11.0
4	GABRA3	gamma-aminobutyric acid (GABA) A receptor, alpha 3	11.0	Disorders

Pathways related to mucopolysaccharidosis ii according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Lysosome20	9.3	IDS, HGSNAT
2	Glycosaminoglycan degradation20	9.0	IDS, HGSNAT

Compounds related to mucopolysaccharidosis ii according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	heparan sulfate32 18	10.3	IDS, HGSNAT

Biological processes related to mucopolysaccharidosis ii according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	carbohydrate metabolic process	GO:005975	9.3	IDS, HGSNAT
2	glycosaminoglycan catabolic process	GO:006027	9.2	IDS, HGSNAT
3	glycosaminoglycan metabolic process	GO:030203	9.0	IDS, HGSNAT