MCID: MCP043
MIFTS: 52

Mucopolysaccharidosis, Type Iiia

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

Aliases & Classifications for Mucopolysaccharidosis, Type Iiia

MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiia:

Name: Mucopolysaccharidosis, Type Iiia 57 40
Mucopolysaccharidosis Type Iiia 57 53 59 75 73
Mps Iiia 57 53 75 55
Mps3a 57 53 59 75
Heparan Sulfate Sulfatase Deficiency 57 53 75
Sanfilippo Syndrome a 57 53 75
Heparan Sulfamidase Deficiency 53 59
Mucopolysaccharidosis Type 3a 53 59
Sanfilippo Syndrome Type a 53 59
Sulfamidase Deficiency 57 75
Mpsiiia 53 59
Mucopoly-Saccharidosis Type 3a 53
Mucopolysaccharidosis Iii 73
Mucopolysaccharidosis 3a 75
Mps Iii-a 76
Mps 3a 53

Characteristics:

Orphanet epidemiological data:

59
sanfilippo syndrome type a
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Worldwide),1-9/1000000 (Sweden);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
four clinically indistinguishable biochemically distinct forms


HPO:

32
mucopolysaccharidosis, type iiia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis, Type Iiia

NIH Rare Diseases : 53 Mucopolysaccharidosis type IIIA (MPS IIIA) is a severe, progressive disorder that affects the central nervous system. In people with MPS IIIA, the body cannot break down a large sugar molecule called heparin sulfate. Signs and symptoms usually begin in early childhood and include severe neurological symptoms such as progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIA is caused by mutations in the SGSH gene and is inherited in an autosomal recessive manner. There is currently no specific treatment for MPS IIIA; affected people usually do not survive past the second decade of life.

MalaCards based summary : Mucopolysaccharidosis, Type Iiia, also known as mucopolysaccharidosis type iiia, is related to mucopolysaccharidosis iii and heparane sulfamidase deficiency, and has symptoms including diarrhea, seizures and joint stiffness. An important gene associated with Mucopolysaccharidosis, Type Iiia is SGSH (N-Sulfoglucosamine Sulfohydrolase), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Lysosome. The drugs alemtuzumab and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver, and related phenotypes are dense calvaria and coarse facial features

OMIM : 57 The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder 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. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. (252900)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more...

Related Diseases for Mucopolysaccharidosis, Type Iiia

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



Diseases related to Mucopolysaccharidosis, Type Iiia

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iiia

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
hyperactivity
mental retardation
severe behavioral problems at age 3-4
slowing mental development by 1.5 to 3 years
more
Abdomen Gastrointestinal:
diarrhea

Skeletal Spine:
ovoid thoracolumbar vertebrae

Head And Neck Ears:
hearing loss

Cardiovascular Heart:
asymmetric septal hypertrophy

Growth Other:
usually normal stature

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Skeletal Limbs:
mild joint stiffness

Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism

Head And Neck Eyes:
synophrys
clear corneas

Skeletal Skull:
dense calvaria

AbdomenSpleen:
mild splenomegaly

Skeletal:
mild dysostosis multiplex

Head And Neck Face:
mild coarse facies

Abdomen Liver:
mild hepatomegaly

Laboratory Abnormalities:
heparan n-sulfatase deficiency in fibroblasts and amniocytes
heparan sulfate excretion in urine


Clinical features from OMIM:

252900

Human phenotypes related to Mucopolysaccharidosis, Type Iiia:

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

UMLS symptoms related to Mucopolysaccharidosis, Type Iiia:


diarrhea, seizures, joint stiffness

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Iiia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 GNPTAB M6PR MAP2 NAGLU SGSH
2 renal/urinary system MP:0005367 8.92 GNPTAB M6PR NAGLU SGSH

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiia

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
3
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
4
Hydroxyurea Approved Phase 2 127-07-1 3657
5
Melphalan Approved Phase 2 148-82-3 4053 460612
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7 tannic acid Approved, Nutraceutical Phase 2
8 Alkylating Agents Phase 2
9 Antifungal Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Antimetabolites Phase 2
12 Antimetabolites, Antineoplastic Phase 2
13 Antineoplastic Agents, Alkylating Phase 2
14 Antirheumatic Agents Phase 2
15 Calcineurin Inhibitors Phase 2
16 Cyclosporins Phase 2
17 Dermatologic Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Nucleic Acid Synthesis Inhibitors Phase 2
20 insulin Phase 1, Phase 2
21 Insulin, Globin Zinc Phase 1, Phase 2
22 Mitogens Phase 1, Phase 2

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
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 Recombinant human heparan N-sulfatase [rhHNS]
4 Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy Completed NCT02053064 Phase 1, Phase 2
5 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
6 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
7 A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients Recruiting NCT03423186 Phase 1, Phase 2 SOBI003
8 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH Recruiting NCT02716246 Phase 1, Phase 2
9 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2 BMN 250
10 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
11 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
12 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 HGT-1410
13 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
14 A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
15 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
16 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
17 Natural History Study of Patients With MPS IIIA Recruiting NCT02746341
18 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
19 A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT02493998
20 Biomarker for Sanfilippo Disease Terminated NCT02298686

Search NIH Clinical Center for Mucopolysaccharidosis, Type Iiia

Genetic Tests for Mucopolysaccharidosis, Type Iiia

Anatomical Context for Mucopolysaccharidosis, Type Iiia

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiia:

41
Eye, Bone, Liver, Brain, Cerebellum

Publications for Mucopolysaccharidosis, Type Iiia

Articles related to Mucopolysaccharidosis, Type Iiia:

(show all 32)
# Title Authors Year
1
Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series. ( 29198891 )
2018
2
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. ( 26787381 )
2016
3
Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA. ( 26762778 )
2016
4
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. ( 27590925 )
2016
5
A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome). ( 25807448 )
2015
6
Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. ( 27896117 )
2014
7
Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. ( 24524415 )
2014
8
Development of cerebellar pathology in the canine model of mucopolysaccharidosis type IIIA (MPS IIIA). ( 25453402 )
2014
9
Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. ( 24582005 )
2014
10
Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA. ( 25513953 )
2014
11
Correction of murine mucopolysaccharidosis type IIIA central nervous system pathology by intracerebroventricular lentiviral-mediated gene delivery. ( 25418946 )
2014
12
Mucopolysaccharidosis Type IIIA presents as a variant of KlA1ver-Bucy syndrome. ( 23745734 )
2013
13
Mild mental retardation and low levels of urinary heparan sulfate in a patient with the attenuated phenotype of mucopolysaccharidosis type IIIA. ( 23274385 )
2013
14
Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer. ( 20683858 )
2010
15
Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease. ( 19690584 )
2010
16
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. ( 21061399 )
2010
17
Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA. ( 20650670 )
2010
18
SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors. ( 20231109 )
2010
19
Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice. ( 20673764 )
2010
20
Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA. ( 19170061 )
2009
21
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). ( 18407553 )
2008
22
Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice. ( 18518922 )
2008
23
Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA. ( 18248829 )
2008
24
Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice. ( 18453006 )
2008
25
Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA mice. ( 18297392 )
2008
26
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). ( 17938166 )
2007
27
Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA. ( 17227588 )
2007
28
In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA. ( 14741188 )
2004
29
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). ( 12000360 )
2002
30
Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. ( 11829484 )
2002
31
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. ( 11668611 )
2001
32
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). ( 9401012 )
1997

Variations for Mucopolysaccharidosis, Type Iiia

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

75 (show top 50) (show all 56)
# 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 rs139850991
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 rs1046551417Mucopolysaccharidosis
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 Mucopolysaccharidosis, Type Iiia:

6
(show top 50) (show all 65)
# 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.3335+6T> G single nucleotide variant Pathogenic rs34788341 GRCh38 Chromosome 12, 101757566: 101757566
3 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
4 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Pathogenic rs34159654 GRCh38 Chromosome 12, 101830666: 101830666
5 SGSH NM_000199.3(SGSH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic rs104894635 GRCh37 Chromosome 17, 78187614: 78187614
6 SGSH NM_000199.3(SGSH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic rs104894635 GRCh38 Chromosome 17, 80213815: 80213815
7 SGSH NM_000199.3(SGSH): c.220C> T (p.Arg74Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894636 GRCh37 Chromosome 17, 78190860: 78190860
8 SGSH NM_000199.3(SGSH): c.220C> T (p.Arg74Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894636 GRCh38 Chromosome 17, 80217061: 80217061
9 SGSH NM_000199.3(SGSH): c.1298G> A (p.Arg433Gln) single nucleotide variant Pathogenic rs104894641 GRCh37 Chromosome 17, 78184462: 78184462
10 SGSH NM_000199.3(SGSH): c.1298G> A (p.Arg433Gln) single nucleotide variant Pathogenic rs104894641 GRCh38 Chromosome 17, 80210663: 80210663
11 SGSH NM_000199.3(SGSH): c.383C> T (p.Pro128Leu) single nucleotide variant Pathogenic rs104894642 GRCh37 Chromosome 17, 78188537: 78188537
12 SGSH NM_000199.3(SGSH): c.383C> T (p.Pro128Leu) single nucleotide variant Pathogenic rs104894642 GRCh38 Chromosome 17, 80214738: 80214738
13 SGSH NM_000199.3(SGSH): c.197C> G (p.Ser66Trp) single nucleotide variant Pathogenic rs104894637 GRCh37 Chromosome 17, 78190883: 78190883
14 SGSH NM_000199.3(SGSH): c.197C> G (p.Ser66Trp) single nucleotide variant Pathogenic rs104894637 GRCh38 Chromosome 17, 80217084: 80217084
15 SGSH SGSH, 1-BP DEL, 1091C deletion Pathogenic
16 SGSH NM_000199.3(SGSH): c.449G> A (p.Arg150Gln) single nucleotide variant Likely pathogenic rs104894638 GRCh37 Chromosome 17, 78188471: 78188471
17 SGSH NM_000199.3(SGSH): c.449G> A (p.Arg150Gln) single nucleotide variant Likely pathogenic rs104894638 GRCh38 Chromosome 17, 80214672: 80214672
18 SGSH SGSH, 9-BP DEL, NT1307 deletion Pathogenic
19 SGSH SGSH, 11-BP DEL, NT1284 deletion Pathogenic
20 SGSH NM_000199.3(SGSH): c.1105G> A (p.Glu369Lys) single nucleotide variant Pathogenic rs104894640 GRCh37 Chromosome 17, 78184655: 78184655
21 SGSH NM_000199.3(SGSH): c.1105G> A (p.Glu369Lys) single nucleotide variant Pathogenic rs104894640 GRCh38 Chromosome 17, 80210856: 80210856
22 SGSH NM_000199.3(SGSH): c.617G> C (p.Arg206Pro) single nucleotide variant Pathogenic rs104894643 GRCh37 Chromosome 17, 78188017: 78188017
23 SGSH NM_000199.3(SGSH): c.617G> C (p.Arg206Pro) single nucleotide variant Pathogenic rs104894643 GRCh38 Chromosome 17, 80214218: 80214218
24 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh37 Chromosome 17, 78185927: 78185927
25 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh38 Chromosome 17, 80212128: 80212128
26 GNPTAB NM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs) deletion Pathogenic rs34901902 GRCh37 Chromosome 12, 102158640: 102158644
27 GNPTAB NM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs) deletion Pathogenic rs34901902 GRCh38 Chromosome 12, 101764862: 101764866
28 GNPTAB NM_024312.4(GNPTAB): c.3435-1G> A single nucleotide variant Pathogenic rs281865037 GRCh37 Chromosome 12, 102147318: 102147318
29 GNPTAB NM_024312.4(GNPTAB): c.3435-1G> A single nucleotide variant Pathogenic rs281865037 GRCh38 Chromosome 12, 101753540: 101753540
30 GNPTAB NM_024312.4(GNPTAB): c.832C> T (p.Gln278Ter) single nucleotide variant Pathogenic rs35878526 GRCh37 Chromosome 12, 102164875: 102164875
31 GNPTAB NM_024312.4(GNPTAB): c.832C> T (p.Gln278Ter) single nucleotide variant Pathogenic rs35878526 GRCh38 Chromosome 12, 101771097: 101771097
32 SGSH NM_000199.3(SGSH): c.1027dupC (p.Leu343Profs) duplication Pathogenic rs778700037 GRCh37 Chromosome 17, 78184733: 78184733
33 SGSH NM_000199.3(SGSH): c.1027dupC (p.Leu343Profs) duplication Pathogenic rs778700037 GRCh38 Chromosome 17, 80210934: 80210934
34 SGSH NM_000199.3(SGSH): c.1116G> A (p.Met372Ile) single nucleotide variant Benign/Likely benign rs58786455 GRCh38 Chromosome 17, 80210845: 80210845
35 SGSH NM_000199.3(SGSH): c.1116G> A (p.Met372Ile) single nucleotide variant Benign/Likely benign rs58786455 GRCh37 Chromosome 17, 78184644: 78184644
36 SGSH NM_000199.3(SGSH): c.877C> T (p.Pro293Ser) single nucleotide variant Pathogenic/Likely pathogenic rs143947056 GRCh37 Chromosome 17, 78185942: 78185942
37 SGSH NM_000199.3(SGSH): c.877C> T (p.Pro293Ser) single nucleotide variant Pathogenic/Likely pathogenic rs143947056 GRCh38 Chromosome 17, 80212143: 80212143
38 SGSH NM_000199.3(SGSH): c.1135delG (p.Val379Cysfs) deletion Pathogenic rs777956287 GRCh37 Chromosome 17, 78184625: 78184625
39 SGSH NM_000199.3(SGSH): c.1135delG (p.Val379Cysfs) deletion Pathogenic rs777956287 GRCh38 Chromosome 17, 80210826: 80210826
40 SGSH NM_000199.3(SGSH): c.1272_1282delCAAGGACCTCC (p.Tyr424Terfs) deletion Pathogenic rs752914124 GRCh37 Chromosome 17, 78184478: 78184488
41 SGSH NM_000199.3(SGSH): c.1272_1282delCAAGGACCTCC (p.Tyr424Terfs) deletion Pathogenic rs752914124 GRCh38 Chromosome 17, 80210679: 80210689
42 SGSH NM_000199.3(SGSH): c.1063G> A (p.Glu355Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs766938111 GRCh38 Chromosome 17, 80210898: 80210898
43 SGSH NM_000199.3(SGSH): c.1063G> A (p.Glu355Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs766938111 GRCh37 Chromosome 17, 78184697: 78184697
44 SGSH NM_000199.3(SGSH): c.166C> T (p.Arg56Cys) single nucleotide variant Uncertain significance rs761780038 GRCh38 Chromosome 17, 80217115: 80217115
45 SGSH NM_000199.3(SGSH): c.166C> T (p.Arg56Cys) single nucleotide variant Uncertain significance rs761780038 GRCh37 Chromosome 17, 78190914: 78190914
46 SGSH NM_000199.3(SGSH): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs374621913 GRCh38 Chromosome 17, 80213852: 80213852
47 SGSH NM_000199.3(SGSH): c.697C> T (p.Arg233Ter) single nucleotide variant Pathogenic/Likely pathogenic rs374621913 GRCh37 Chromosome 17, 78187651: 78187651
48 SGSH NM_000199.3(SGSH): c.673T> C (p.Phe225Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057521801 GRCh37 Chromosome 17, 78187675: 78187675
49 SGSH NM_000199.3(SGSH): c.673T> C (p.Phe225Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057521801 GRCh38 Chromosome 17, 80213876: 80213876
50 SGSH NM_000199.4(SGSH): c.763delC (p.Gln255Argfs) deletion Pathogenic GRCh37 Chromosome 17, 78186056: 78186056

Expression for Mucopolysaccharidosis, Type Iiia

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Iiia.

Pathways for Mucopolysaccharidosis, Type Iiia

Pathways related to Mucopolysaccharidosis, Type Iiia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.05 MAP2 NES
2 11.01 GNPTAB M6PR NAGLU SGSH
3
Show member pathways
10.26 NAGLU SGSH

GO Terms for Mucopolysaccharidosis, Type Iiia

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

# 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 Mucopolysaccharidosis, Type Iiia according to GeneCards Suite gene sharing:

# 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 glycosaminoglycan catabolic process GO:0006027 8.96 NAGLU SGSH
4 secretion of lysosomal enzymes GO:0033299 8.62 GNPTAB M6PR

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

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

Sources for Mucopolysaccharidosis, Type Iiia

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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