MCID: MCP027
MIFTS: 28

Mucopolysaccharidisis Type Iiia malady

Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases categories
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Summaries for Mucopolysaccharidisis Type Iiia

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MalaCards based summary: Mucopolysaccharidisis Type Iiia, also known as mucopolysaccharidosis type iiia, is related to heparane sulfamidase deficiency and mucopolysaccharidosis, and has symptoms including An important gene associated with Mucopolysaccharidisis Type Iiia is SGSH (N-sulfoglucosamine sulfohydrolase), and among its related pathways is Lysosome. Affiliated tissues include eye and bone, and related mouse phenotypes are vision/eye and skeleton.

Description from OMIM:46 252900

Aliases & Classifications for Mucopolysaccharidisis Type Iiia

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Mucopolysaccharidisis Type Iiia, Aliases & Descriptions:

Name: Mucopolysaccharidisis Type Iiia 46
Mucopolysaccharidosis Type Iiia 48 62
Heparan Sulfamidase Deficiency 48 62
 
Sanfilippo Syndrome Type a 48 62
Mucopolysaccharidosis Type 3a 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
mucopolysaccharidosis type iiia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000


External Ids:

OMIM46 252900
ICD10 via Orphanet26 E76.2

Related Diseases for Mucopolysaccharidisis Type Iiia

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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 deficiency10.5
2mucopolysaccharidosis10.5
3mental retardation10.3
4mucopolysaccharidosis iii10.2

Symptoms for Mucopolysaccharidisis Type Iiia

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Symptoms by clinical synopsis from OMIM:

252900

Clinical features from OMIM:

252900

HPO human phenotypes related to Mucopolysaccharidisis Type Iiia:

(show all 22)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 dense calvaria HP:0000250
3 coarse facial features HP:0000280
4 hearing impairment HP:0000365
5 synophrys HP:0000664
6 hyperactivity HP:0000752
7 thickened ribs HP:0000900
8 dysostosis multiplex HP:0000943
9 hirsutism HP:0001007
10 intellectual disability HP:0001249
11 seizures HP:0001250
12 joint stiffness HP:0001387
13 growth abnormality HP:0001507
14 asymmetric septal hypertrophy HP:0001670
15 splenomegaly HP:0001744
16 diarrhea HP:0002014
17 heparan sulfate excretion in urine HP:0002159
18 coarse hair HP:0002208
19 hepatomegaly HP:0002240
20 sleep disturbance HP:0002360
21 recurrent upper respiratory tract infections HP:0002788
22 ovoid thoracolumbar vertebrae HP:0003309

Drugs & Therapeutics for Mucopolysaccharidisis Type Iiia

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Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidisis Type Iiia

Search NIH Clinical Center for Mucopolysaccharidisis Type Iiia

Genetic Tests for Mucopolysaccharidisis Type Iiia

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Anatomical Context for Mucopolysaccharidisis Type Iiia

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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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MGI Mouse Phenotypes related to Mucopolysaccharidisis Type Iiia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.2SGSH, GNPTAB
2MP:00053909.2SGSH, GNPTAB
3MP:00053979.1SGSH, GNPTAB
4MP:00036319.1SGSH, GNPTAB
5MP:00053879.0GNPTAB, SGSH
6MP:00053848.8SGSH, GNPTAB

Publications for Mucopolysaccharidisis Type Iiia

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Variations for Mucopolysaccharidisis Type Iiia

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

64 (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

Clinvar genetic disease variations for Mucopolysaccharidisis Type Iiia:

6 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1GNPTABNM_024312.4(GNPTAB): c.3335+6T> Gsingle nucleotide variantPathogenicrs34788341GRCh37Chr 12, 102151344: 102151344
2GNPTABNM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln)single nucleotide variantPathogenicrs34159654GRCh37Chr 12, 102224444: 102224444
3SGSHNM_000199.3(SGSH): c.892T> C (p.Ser298Pro)single nucleotide variantPathogenicrs138504221GRCh37Chr 17, 78185927: 78185927
4GNPTABNM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs)deletionPathogenicrs34901902GRCh37Chr 12, 102158640: 102158644
5GNPTABNM_024312.4(GNPTAB): c.3435-1G> Asingle nucleotide variantPathogenicrs281865037GRCh37Chr 12, 102147318: 102147318
6GNPTABNM_024312.4(GNPTAB): c.569A> T (p.Asp190Val)single nucleotide variantPathogenicrs34946266GRCh37Chr 12, 102179792: 102179792
7GNPTABNM_024312.4(GNPTAB): c.832C> T (p.Gln278Ter)single nucleotide variantPathogenicrs35878526GRCh37Chr 12, 102164875: 102164875
8SGSHNM_000199.3(SGSH): c.734G> A (p.Arg245His)single nucleotide variantPathogenicrs104894635GRCh37Chr 17, 78187614: 78187614
9SGSHNM_000199.3(SGSH): c.220C> T (p.Arg74Cys)single nucleotide variantPathogenicrs104894636GRCh37Chr 17, 78190860: 78190860
10SGSHNM_000199.3(SGSH): c.1298G> A (p.Arg433Gln)single nucleotide variantPathogenicrs104894641GRCh37Chr 17, 78184462: 78184462
11SGSHNM_000199.3(SGSH): c.383C> T (p.Pro128Leu)single nucleotide variantPathogenicrs104894642GRCh37Chr 17, 78188537: 78188537
12SGSHNM_000199.3(SGSH): c.197C> G (p.Ser66Trp)single nucleotide variantPathogenicrs104894637GRCh37Chr 17, 78190883: 78190883
13SGSHSGSH, 1-BP DEL, 1091CdeletionPathogenic
14SGSHNM_000199.3(SGSH): c.449G> A (p.Arg150Gln)single nucleotide variantPathogenicrs104894638GRCh37Chr 17, 78188471: 78188471
15SGSHNM_000199.3(SGSH): c.1339G> A (p.Glu447Lys)single nucleotide variantPathogenicrs104894639GRCh37Chr 17, 78184421: 78184421
16SGSHSGSH, 9-BP DEL, NT1307deletionPathogenic
17SGSHSGSH, 11-BP DEL, NT1284deletionPathogenic
18SGSHNM_000199.3(SGSH): c.1105G> A (p.Glu369Lys)single nucleotide variantPathogenicrs104894640GRCh37Chr 17, 78184655: 78184655
19SGSHNM_000199.3(SGSH): c.617G> C (p.Arg206Pro)single nucleotide variantPathogenicrs104894643GRCh37Chr 17, 78188017: 78188017

Expression for genes affiliated with Mucopolysaccharidisis Type Iiia

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Expression patterns in normal tissues for genes affiliated with Mucopolysaccharidisis Type Iiia

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Pathways for genes affiliated with Mucopolysaccharidisis Type Iiia

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Pathways related to Mucopolysaccharidisis Type Iiia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SGSH, GNPTAB

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet