MCID: MCP035
MIFTS: 14

Mucopolysaccharidosis Type 2, Severe Form

Categories: Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases, Rare diseases, Genetic diseases, Respiratory diseases, Blood diseases

Aliases & Classifications for Mucopolysaccharidosis Type 2, Severe Form

MalaCards integrated aliases for Mucopolysaccharidosis Type 2, Severe Form:

Name: Mucopolysaccharidosis Type 2, Severe Form 59
Mucopolysaccharidosis, Type Ii, Severe Form 6
Mucopolysaccharidosis Type Ii, Severe Form 59
Iduronate 2-Sulfatase Deficiency Type a 59
Mucopolysaccharidosis Type Iia 59
Mucopolysaccharidosis Type 2a 59
Hunter Syndrome Type a 59
Mpsiia 59
Mps2a 59

Characteristics:

Orphanet epidemiological data:

59
mucopolysaccharidosis type 2, severe form
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: young Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA217085
ICD10 via Orphanet 34 E76.1

Summaries for Mucopolysaccharidosis Type 2, Severe Form

MalaCards based summary : Mucopolysaccharidosis Type 2, Severe Form, is also known as mucopolysaccharidosis, type ii, severe form. An important gene associated with Mucopolysaccharidosis Type 2, Severe Form is IDS (Iduronate 2-Sulfatase). Affiliated tissues include skin, bone and eye.

Related Diseases for Mucopolysaccharidosis Type 2, Severe Form

Symptoms & Phenotypes for Mucopolysaccharidosis Type 2, Severe Form

Drugs & Therapeutics for Mucopolysaccharidosis Type 2, Severe Form

Search Clinical Trials , NIH Clinical Center for Mucopolysaccharidosis Type 2, Severe Form

Genetic Tests for Mucopolysaccharidosis Type 2, Severe Form

Anatomical Context for Mucopolysaccharidosis Type 2, Severe Form

MalaCards organs/tissues related to Mucopolysaccharidosis Type 2, Severe Form:

41
Skin, Bone, Eye

Publications for Mucopolysaccharidosis Type 2, Severe Form

Variations for Mucopolysaccharidosis Type 2, Severe Form

ClinVar genetic disease variations for Mucopolysaccharidosis Type 2, Severe Form:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IDS NM_000202.7(IDS): c.1403G> A (p.Arg468Gln) single nucleotide variant Pathogenic rs113993946 GRCh37 Chromosome X, 148564527: 148564527
2 IDS NM_000202.7(IDS): c.1403G> A (p.Arg468Gln) single nucleotide variant Pathogenic rs113993946 GRCh38 Chromosome X, 149482996: 149482996
3 IDS NM_000202.7(IDS): c.1403G> T (p.Arg468Leu) single nucleotide variant Pathogenic rs113993946 GRCh37 Chromosome X, 148564527: 148564527
4 IDS NM_000202.7(IDS): c.1403G> T (p.Arg468Leu) single nucleotide variant Pathogenic rs113993946 GRCh38 Chromosome X, 149482996: 149482996

Expression for Mucopolysaccharidosis Type 2, Severe Form

Search GEO for disease gene expression data for Mucopolysaccharidosis Type 2, Severe Form.

Pathways for Mucopolysaccharidosis Type 2, Severe Form

GO Terms for Mucopolysaccharidosis Type 2, Severe Form

Sources for Mucopolysaccharidosis Type 2, Severe Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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