Mucopolysaccharidisis Type Iiia (MPS3A) malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Mucopolysaccharidisis Type Iiia

Aliases & Descriptions for Mucopolysaccharidisis Type Iiia:

Name: Mucopolysaccharidisis Type Iiia 54 13
Mucopolysaccharidosis Type Iiia 56 66 69
Mps Iiia 66 52
Mps3a 56 66
Heparan Sulfate Sulfatase Deficiency 66
Mucopolysaccharidosis, Type Iiia 54
Heparan Sulfamidase Deficiency 56
Mucopolysaccharidosis Type 3a 56
Sanfilippo Syndrome Type a 56
Mucopolysaccharidosis Iii 69
Mucopolysaccharidosis 3a 66
Sulfamidase Deficiency 66
Sanfilippo Syndrome a 66
Mpsiiia 56


Orphanet epidemiological data:

sanfilippo syndrome type a
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Worldwide),1-9/1000000 (Sweden);


mucopolysaccharidisis type iiia:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 54 252900
Orphanet 56 ORPHA79269
ICD10 via Orphanet 34 E76.2
MedGen 40 C0086647
MeSH 42 D009084

Summaries for Mucopolysaccharidisis Type Iiia

OMIM : 54 The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to... (252900) more...

MalaCards based summary : Mucopolysaccharidisis Type Iiia, also known as mucopolysaccharidosis type iiia, is related to heparane sulfamidase deficiency and mucopolysaccharidosis iii, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidisis Type Iiia is SGSH (N-Sulfoglucosamine Sulfohydrolase), and among its related pathways/superpathways are Lysosome and Glycosaminoglycan degradation. The drugs Cyclosporine and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are behavior/neurological and cellular

UniProtKB/Swiss-Prot : 66 Mucopolysaccharidosis 3A: A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.

Related Diseases for Mucopolysaccharidisis Type Iiia

Graphical network of the top 20 diseases related to Mucopolysaccharidisis Type Iiia:

Diseases related to Mucopolysaccharidisis Type Iiia

Symptoms & Phenotypes for Mucopolysaccharidisis Type Iiia

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Mucopolysaccharidisis Type Iiia:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 joint stiffness 32 HP:0001387
3 diarrhea 32 HP:0002014
4 intellectual disability 32 HP:0001249
5 sleep disturbance 32 HP:0002360
6 coarse facial features 32 HP:0000280
7 hearing impairment 32 HP:0000365
8 splenomegaly 32 HP:0001744
9 hepatomegaly 32 HP:0002240
10 coarse hair 32 HP:0002208
11 dysostosis multiplex 32 HP:0000943
12 recurrent upper respiratory tract infections 32 HP:0002788
13 synophrys 32 HP:0000664
14 hyperactivity 32 HP:0000752
15 hirsutism 32 HP:0001007
16 growth abnormality 32 HP:0001507
17 thickened ribs 32 HP:0000900
18 ovoid thoracolumbar vertebrae 32 HP:0003309
19 asymmetric septal hypertrophy 32 HP:0001670
20 dense calvaria 32 HP:0000250
21 heparan sulfate excretion in urine 32 HP:0002159

UMLS symptoms related to Mucopolysaccharidisis Type Iiia:

diarrhea, seizures, joint stiffness

MGI Mouse Phenotypes related to Mucopolysaccharidisis Type Iiia:

id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 NAGLU SGSH GNPTAB HGSNAT M6PR
2 cellular MP:0005384 9.55 GNPTAB HGSNAT M6PR NAGLU SGSH
3 renal/urinary system MP:0005367 9.35 GNPTAB HGSNAT M6PR NAGLU SGSH
4 skeleton MP:0005390 8.92 GNPTAB M6PR NAGLU SGSH

Drugs & Therapeutics for Mucopolysaccharidisis Type Iiia

Drugs for Mucopolysaccharidisis Type Iiia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
Melphalan Approved Phase 2 148-82-3 4053 460612
Hydroxyurea Approved Phase 2 127-07-1 3657
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
alemtuzumab Approved, Investigational Phase 2 216503-57-0
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
8 tannic acid Approved, Nutraceutical Phase 2
9 Alkylating Agents Phase 2
10 Nucleic Acid Synthesis Inhibitors Phase 2
11 Dermatologic Agents Phase 2
12 Anti-Infective Agents Phase 2
13 Immunosuppressive Agents Phase 2
14 Antifungal Agents Phase 2
15 Antimetabolites Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Antirheumatic Agents Phase 2
18 Antineoplastic Agents, Alkylating Phase 2
19 Calcineurin Inhibitors Phase 2
20 insulin Phase 1, Phase 2
21 Mitogens Phase 1, Phase 2
22 Insulin, Globin Zinc Phase 1, Phase 2

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
2 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
3 Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease Completed NCT02060526 Phase 2
4 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
5 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
6 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA Recruiting NCT02716246 Phase 1, Phase 2
7 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2
8 Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Active, not recruiting NCT01299727 Phase 1, Phase 2
9 Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy Active, not recruiting NCT02053064 Phase 1, Phase 2
10 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
11 An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093. Enrolling by invitation NCT02350816 Phase 2
12 A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
13 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
14 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
15 Natural History Study of Patients With MPS IIIA Recruiting NCT02746341
16 A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Recruiting NCT02493998
17 Biomarker for Sanfilippo Disease Recruiting NCT02298686
18 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Recruiting NCT01938014

Search NIH Clinical Center for Mucopolysaccharidisis Type Iiia

Genetic Tests for Mucopolysaccharidisis Type Iiia

Genetic tests related to Mucopolysaccharidisis Type Iiia:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Iiia 24 SGSH

Anatomical Context for Mucopolysaccharidisis Type Iiia

MalaCards organs/tissues related to Mucopolysaccharidisis Type Iiia:

Bone, Eye

Publications for Mucopolysaccharidisis Type Iiia

Variations for Mucopolysaccharidisis Type Iiia

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

66 (show top 50) (show all 56)
id Symbol AA change Variation ID SNP ID
1 SGSH p.Tyr40Asn VAR_007388
2 SGSH p.Ala44Thr VAR_007389
3 SGSH p.Ser66Trp VAR_007390 rs104894637
4 SGSH p.Arg74Cys VAR_007391 rs104894636
5 SGSH p.Arg74His VAR_007392 rs778336949
6 SGSH p.Thr79Pro VAR_007393 rs779703983
7 SGSH p.Gln85Arg VAR_007395
8 SGSH p.Gly90Arg VAR_007396 rs774010006
9 SGSH p.Gly122Arg VAR_007397 rs761607612
10 SGSH p.Pro128Leu VAR_007398 rs104894642
11 SGSH p.Val131Met VAR_007399 rs370636303
12 SGSH p.Thr139Met VAR_007400 rs775112689
13 SGSH p.Leu146Pro VAR_007401 rs749358773
14 SGSH p.Arg150Gln VAR_007402 rs104894638
15 SGSH p.Asp179Asn VAR_007403 rs774773010
16 SGSH p.Arg182Cys VAR_007404 rs529855742
17 SGSH p.Phe193Leu VAR_007405
18 SGSH p.Arg206Pro VAR_007406 rs104894643
19 SGSH p.Pro227Arg VAR_007408 rs774602372
20 SGSH p.Ala234Gly VAR_007409 rs113641837
21 SGSH p.Asp235Val VAR_007410 rs763800418
22 SGSH p.Arg245His VAR_007411 rs104894635
23 SGSH p.Ser298Pro VAR_007412 rs138504221
24 SGSH p.Thr321Ala VAR_007413 rs758756630
25 SGSH p.Ala354Pro VAR_007414
26 SGSH p.Ser364Arg VAR_007416
27 SGSH p.Glu369Lys VAR_007417 rs104894640
28 SGSH p.Arg377Cys VAR_007418 rs772311757
29 SGSH p.Arg377His VAR_007419 rs746037899
30 SGSH p.Gln380Arg VAR_007420 rs144143780
31 SGSH p.Leu386Arg VAR_007421
32 SGSH p.Asn389Lys VAR_007422 rs764057581
33 SGSH p.Glu447Lys VAR_007423 rs104894639
34 SGSH p.Asp32Glu VAR_054670
35 SGSH p.Asp32Gly VAR_054671
36 SGSH p.Asn42Lys VAR_054672
37 SGSH p.His84Tyr VAR_054673
38 SGSH p.Met88Thr VAR_054674
39 SGSH p.Ser106Arg VAR_054675
40 SGSH p.Arg150Trp VAR_054676
41 SGSH p.Leu163Pro VAR_054677
42 SGSH p.Gly191Arg VAR_054678 rs753666460
43 SGSH p.Asp235Asn VAR_054679 rs753472891
44 SGSH p.Gly251Ala VAR_054680 rs144461610
45 SGSH p.Asp273Asn VAR_054681
46 SGSH p.Pro288Ser VAR_054682
47 SGSH p.Pro293Ser VAR_054683 rs143947056
48 SGSH p.Pro293Thr VAR_054684
49 SGSH p.Glu300Val VAR_054685
50 SGSH p.Gln307Pro VAR_054687

ClinVar genetic disease variations for Mucopolysaccharidisis Type Iiia:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 GNPTAB NM_024312.4(GNPTAB): c.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh37 Chromosome 12, 102151344: 102151344
2 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
3 SGSH NM_000199.3(SGSH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic rs104894635 GRCh37 Chromosome 17, 78187614: 78187614
4 SGSH NM_000199.3(SGSH): c.220C> T (p.Arg74Cys) single nucleotide variant Pathogenic rs104894636 GRCh37 Chromosome 17, 78190860: 78190860
5 SGSH NM_000199.3(SGSH): c.1298G> A (p.Arg433Gln) single nucleotide variant Pathogenic rs104894641 GRCh37 Chromosome 17, 78184462: 78184462
6 SGSH NM_000199.3(SGSH): c.383C> T (p.Pro128Leu) single nucleotide variant Pathogenic rs104894642 GRCh37 Chromosome 17, 78188537: 78188537
7 SGSH NM_000199.3(SGSH): c.197C> G (p.Ser66Trp) single nucleotide variant Pathogenic rs104894637 GRCh37 Chromosome 17, 78190883: 78190883
8 SGSH SGSH, 1-BP DEL, 1091C deletion Pathogenic
9 SGSH NM_000199.3(SGSH): c.449G> A (p.Arg150Gln) single nucleotide variant Pathogenic rs104894638 GRCh37 Chromosome 17, 78188471: 78188471
10 SGSH SGSH, 9-BP DEL, NT1307 deletion Pathogenic
11 SGSH SGSH, 11-BP DEL, NT1284 deletion Pathogenic
12 SGSH NM_000199.3(SGSH): c.1105G> A (p.Glu369Lys) single nucleotide variant Pathogenic rs104894640 GRCh37 Chromosome 17, 78184655: 78184655
13 SGSH NM_000199.3(SGSH): c.617G> C (p.Arg206Pro) single nucleotide variant Pathogenic rs104894643 GRCh37 Chromosome 17, 78188017: 78188017
14 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh37 Chromosome 17, 78185927: 78185927
15 GNPTAB NM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs) deletion Pathogenic rs34901902 GRCh37 Chromosome 12, 102158640: 102158644
16 GNPTAB NM_024312.4(GNPTAB): c.3435-1G> A single nucleotide variant Pathogenic rs281865037 GRCh37 Chromosome 12, 102147318: 102147318
17 GNPTAB NM_024312.4(GNPTAB): c.569A> T (p.Asp190Val) single nucleotide variant Pathogenic rs34946266 GRCh37 Chromosome 12, 102179792: 102179792
18 GNPTAB NM_024312.4(GNPTAB): c.832C> T (p.Gln278Ter) single nucleotide variant Pathogenic rs35878526 GRCh37 Chromosome 12, 102164875: 102164875
19 SGSH NM_000199.3(SGSH): c.1027dupC (p.Leu343Profs) duplication Pathogenic rs778700037 GRCh37 Chromosome 17, 78184733: 78184733
20 SGSH NM_000199.3(SGSH): c.877C> T (p.Pro293Ser) single nucleotide variant Pathogenic/Likely pathogenic rs143947056 GRCh37 Chromosome 17, 78185942: 78185942
21 SGSH NM_000199.3(SGSH): c.1135delG (p.Val379Cysfs) deletion Pathogenic rs777956287 GRCh37 Chromosome 17, 78184625: 78184625
22 SGSH NM_000199.3(SGSH): c.1272_1282delCAAGGACCTCC (p.Tyr424Terfs) deletion Pathogenic rs752914124 GRCh37 Chromosome 17, 78184478: 78184488
23 SGSH NM_000199.3(SGSH): c.697C> T (p.Arg233Ter) single nucleotide variant Likely pathogenic rs374621913 GRCh38 Chromosome 17, 80213852: 80213852

Expression for Mucopolysaccharidisis Type Iiia

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

Pathways for Mucopolysaccharidisis Type Iiia

Pathways related to Mucopolysaccharidisis Type Iiia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
Show member pathways

GO Terms for Mucopolysaccharidisis Type Iiia

Cellular components related to Mucopolysaccharidisis Type Iiia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.96 NAGLU SGSH
2 lysosome GO:0005764 8.8 M6PR NAGLU SGSH

Biological processes related to Mucopolysaccharidisis Type Iiia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.43 ARSH NAGLU SGSH
2 lysosome organization GO:0007040 9.16 GNPTAB NAGLU
3 secretion of lysosomal enzymes GO:0033299 8.96 GNPTAB M6PR
4 glycosaminoglycan catabolic process GO:0006027 8.8 HGSNAT NAGLU SGSH

Molecular functions related to Mucopolysaccharidisis Type Iiia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sulfuric ester hydrolase activity GO:0008484 8.62 ARSH SGSH

Sources for Mucopolysaccharidisis Type Iiia

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
Loading form....