MCID: MCP027
MIFTS: 27

Mucopolysaccharidisis Type Iiia malady

Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases categories

Summaries for Mucopolysaccharidisis Type Iiia

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46OMIM, 32MalaCards
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MalaCards: Mucopolysaccharidisis Type Iiia, also known as heparan sulfamidase deficiency, is related to heparane sulfamidase deficiency and mucopolysaccharidosis. An important gene associated with Mucopolysaccharidisis Type Iiia is SGSH (N-sulfoglucosamine sulfohydrolase). Affiliated tissues include eye and bone.

Description from OMIM:46 252900

Aliases & Classifications for Mucopolysaccharidisis Type Iiia

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Sources:
46OMIM, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
heparan sulfamidase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000


Aliases & Descriptions:

mucopolysaccharidisis type iiia 46
heparan sulfamidase deficiency 48
mucopolysaccharidosis type 3a 48
sanfilippo syndrome type a 48


External Ids:

SNOMED-CT via Orphanet57 41572006
OMIM46 252900
ICD10 via Orphanet26 E76.2

Related Diseases for Mucopolysaccharidisis Type Iiia

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17GeneCards, 18GeneDecks
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Diseases related to Mucopolysaccharidisis Type Iiia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1heparane sulfamidase deficiency10.4
2mucopolysaccharidosis10.4
3mucopolysaccharidosis iii10.2

Clinical Features for Mucopolysaccharidisis Type Iiia

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46OMIM
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Clinical features from OMIM:

252900

Clinical synopsis from OMIM:

252900

Drugs & Therapeutics for Mucopolysaccharidisis Type Iiia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mucopolysaccharidisis Type Iiia

Drug clinical trials:

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Genetic Tests for Mucopolysaccharidisis Type Iiia

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Anatomical Context for Mucopolysaccharidisis Type Iiia

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32MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidisis Type Iiia:

32
Eye, Bone

Animal Models for Mucopolysaccharidisis Type Iiia or affiliated genes

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Publications for Mucopolysaccharidisis Type Iiia

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Genetic Variations for Mucopolysaccharidisis Type Iiia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mucopolysaccharidisis Type Iiia:

62 (show all 56)
id Symbol AA change Variation ID SNP ID
1SGSHp.Tyr40AsnVAR_007388
2SGSHp.Ala44ThrVAR_007389
3SGSHp.Ser66TrpVAR_007390
4SGSHp.Arg74CysVAR_007391
5SGSHp.Arg74HisVAR_007392
6SGSHp.Thr79ProVAR_007393
7SGSHp.Gln85ArgVAR_007395
8SGSHp.Gly90ArgVAR_007396
9SGSHp.Gly122ArgVAR_007397
10SGSHp.Pro128LeuVAR_007398
11SGSHp.Val131MetVAR_007399
12SGSHp.Thr139MetVAR_007400
13SGSHp.Leu146ProVAR_007401
14SGSHp.Arg150GlnVAR_007402
15SGSHp.Asp179AsnVAR_007403
16SGSHp.Arg182CysVAR_007404
17SGSHp.Phe193LeuVAR_007405
18SGSHp.Arg206ProVAR_007406
19SGSHp.Pro227ArgVAR_007408
20SGSHp.Ala234GlyVAR_007409rs113641837
21SGSHp.Asp235ValVAR_007410
22SGSHp.Arg245HisVAR_007411
23SGSHp.Ser298ProVAR_007412rs138504221
24SGSHp.Thr321AlaVAR_007413
25SGSHp.Ala354ProVAR_007414
26SGSHp.Ser364ArgVAR_007416
27SGSHp.Glu369LysVAR_007417
28SGSHp.Arg377CysVAR_007418
29SGSHp.Arg377HisVAR_007419
30SGSHp.Gln380ArgVAR_007420
31SGSHp.Leu386ArgVAR_007421
32SGSHp.Asn389LysVAR_007422
33SGSHp.Glu447LysVAR_007423
34SGSHp.Asp32GluVAR_054670
35SGSHp.Asp32GlyVAR_054671
36SGSHp.Asn42LysVAR_054672
37SGSHp.His84TyrVAR_054673
38SGSHp.Met88ThrVAR_054674
39SGSHp.Ser106ArgVAR_054675
40SGSHp.Arg150TrpVAR_054676
41SGSHp.Leu163ProVAR_054677
42SGSHp.Gly191ArgVAR_054678
43SGSHp.Asp235AsnVAR_054679
44SGSHp.Gly251AlaVAR_054680rs144461610
45SGSHp.Asp273AsnVAR_054681
46SGSHp.Pro288SerVAR_054682
47SGSHp.Pro293SerVAR_054683
48SGSHp.Pro293ThrVAR_054684
49SGSHp.Glu300ValVAR_054685
50SGSHp.Gln307ProVAR_054687
51SGSHp.Ile322SerVAR_054688
52SGSHp.Glu355LysVAR_054689
53SGSHp.Tyr374HisVAR_054690
54SGSHp.Arg433GlnVAR_054695
55SGSHp.Arg433TrpVAR_054696
56SGSHp.Val486PheVAR_054698

Expression for genes affiliated with Mucopolysaccharidisis Type Iiia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mucopolysaccharidisis Type Iiia

Search GEO for disease gene expression data for Mucopolysaccharidisis Type Iiia.

Pathways for genes affiliated with Mucopolysaccharidisis Type Iiia

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Compounds for genes affiliated with Mucopolysaccharidisis Type Iiia

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GO Terms for genes affiliated with Mucopolysaccharidisis Type Iiia

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Products for genes affiliated with Mucopolysaccharidisis Type Iiia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidisis Type Iiia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet