MPS3A
MCID: MCP043
MIFTS: 52

Mucopolysaccharidosis, Type Iiia (MPS3A)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin 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 mucopolysaccharidosis-plus syndrome, and has symptoms including seizures, joint stiffness and diarrhea. 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 lysine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and skin, and related phenotypes are intellectual disability and seizures

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

Diseases in the Mucopolysaccharidosis-Plus Syndrome family:

Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis, Type Vi Mucopolysaccharidosis, Type Vii
Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Ix
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv
Mucopolysaccharidosis Type 2, Severe Form

Diseases related to Mucopolysaccharidosis, Type Iiia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis iii 32.7 ARSH NAGLU SGSH
2 mucopolysaccharidosis-plus syndrome 30.2 ARSH NAGLU SGSH
3 heparane sulfamidase deficiency 12.2
4 mucopolysaccharidosis, type iiib 11.3
5 mucopolysaccharidosis, type iiic 11.3
6 kluver-bucy syndrome 10.1 NAGLU SGSH
7 anxiety 10.0
8 gynecomastia 10.0
9 precocious puberty 10.0
10 dysembryoplastic neuroepithelial tumor 10.0 MAP2 NES
11 brain ischemia 10.0 MAP2 NES
12 central neurocytoma 10.0 MAP2 NES
13 optic nerve neoplasm 10.0 MAP2 NES
14 neuronal migration disorders 10.0 MAP2 NES
15 hurler syndrome 9.9
16 optic nerve glioma 9.9 MAP2 NES
17 mucopolysaccharidoses 9.9 ARSH NAGLU
18 lysosomal storage disease 9.9 M6PR NAGLU SGSH
19 ganglioglioma 9.9 MAP2 NES
20 autism 9.9
21 autism spectrum disorder 9.9
22 multiple sulfatase deficiency 9.7 ARSH SGSH
23 mucolipidosis ii alpha/beta 9.7 ARSH GNPTAB M6PR

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

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

UMLS symptoms related to Mucopolysaccharidosis, Type Iiia:


seizures, joint stiffness, diarrhea

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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 lysine Phase 2, Phase 3
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Melphalan Approved Phase 2 148-82-3 4053 460612
4 tannic acid Approved Phase 2
5
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
6
alemtuzumab Approved, Investigational Phase 2 216503-57-0
7
Hydroxyurea Approved Phase 2 127-07-1 3657
8
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
9 Antirheumatic Agents Phase 2
10 Antineoplastic Agents, Alkylating Phase 2
11 Calcineurin Inhibitors Phase 2
12 Immunosuppressive Agents Phase 2
13 Alkylating Agents Phase 2
14 Antifungal Agents Phase 2
15 Dermatologic Agents Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Anti-Infective Agents Phase 2
18 Cyclosporins Phase 2
19 Antimetabolites Phase 2
20 Immunologic Factors Phase 2
21 Nucleic Acid Synthesis Inhibitors Phase 2
22 Mitogens Phase 1, Phase 2
23 Insulin, Globin Zinc Phase 1, Phase 2
24 insulin Phase 1, Phase 2

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA) Recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
4 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]
5 Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy Completed NCT02053064 Phase 1, Phase 2
6 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
7 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
8 A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients Recruiting NCT03423186 Phase 1, Phase 2 SOBI003
9 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH Recruiting NCT02716246 Phase 1, Phase 2
10 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2 BMN 250
11 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
12 An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093. Active, not recruiting NCT02350816 Phase 2 HGT-1410
13 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
14 A Treatment Extension Study of Mucopolysaccharidosis Type IIIB Enrolling by invitation NCT03784287 Phase 2 BMN 250
15 A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients Not yet recruiting NCT03811028 Phase 1, Phase 2 SOBI003
16 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
17 A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
18 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
19 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
20 Biomarker for Sanfilippo Type A-B-C-D Disease Sanfilippo Type A-B-C-D [MPS III] Recruiting NCT02298686
21 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
22 Natural History Study of Patients With MPS IIIA Active, not recruiting NCT02746341
23 A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT02493998

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
Bone, Liver, Skin, Eye, Brain, Cerebellum, Bone Marrow

Publications for Mucopolysaccharidosis, Type Iiia

Articles related to Mucopolysaccharidosis, Type Iiia:

(show all 44)
# Title Authors Year
1
Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series. ( 29198891 )
2018
2
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse. ( 29251941 )
2018
3
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA. ( 29408731 )
2018
4
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. ( 29654542 )
2018
5
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA. ( 29023963 )
2017
6
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. ( 26787381 )
2016
7
Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA. ( 26762778 )
2016
8
A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome). ( 25807448 )
2015
9
Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. ( 27896117 )
2014
10
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
11
Development of cerebellar pathology in the canine model of mucopolysaccharidosis type IIIA (MPS IIIA). ( 25453402 )
2014
12
Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. ( 24582005 )
2014
13
Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA. ( 25513953 )
2014
14
Correction of murine mucopolysaccharidosis type IIIA central nervous system pathology by intracerebroventricular lentiviral-mediated gene delivery. ( 25418946 )
2014
15
Mucopolysaccharidosis Type IIIA presents as a variant of KlA1ver-Bucy syndrome. ( 23745734 )
2013
16
Mild mental retardation and low levels of urinary heparan sulfate in a patient with the attenuated phenotype of mucopolysaccharidosis type IIIA. ( 23274385 )
2013
17
Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer. ( 20683858 )
2010
18
Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease. ( 19690584 )
2010
19
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. ( 21061399 )
2010
20
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
21
SGSH gene transfer in mucopolysaccharidosis type IIIA mice using canine adenovirus vectors. ( 20231109 )
2010
22
Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice. ( 20673764 )
2010
23
Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA. ( 19170061 )
2009
24
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
25
Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice. ( 18518922 )
2008
26
Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA. ( 18248829 )
2008
27
Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice. ( 18453006 )
2008
28
Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA mice. ( 18297392 )
2008
29
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). ( 17938166 )
2007
30
Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA. ( 17227588 )
2007
31
Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA. ( 16352454 )
2006
32
Characterization of sulfated oligosaccharides in mucopolysaccharidosis type IIIA by electrospray ionization mass spectrometry. ( 16808463 )
2006
33
Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA. ( 16828069 )
2006
34
Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA. ( 16857766 )
2006
35
Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA). ( 15698885 )
2005
36
In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA. ( 14741188 )
2004
37
Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice. ( 15128919 )
2004
38
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). ( 12000360 )
2002
39
Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. ( 11829484 )
2002
40
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. ( 11668611 )
2001
41
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. ( 11509012 )
2001
42
Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling. ( 10518291 )
1999
43
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). ( 9401012 )
1997
44
A (1;21) balanced translocation in a male with mucopolysaccharidosis type IIIA. Repository identification No. GM1881. ( 6777119 )
1980

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 rs105752114
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 rs129960136
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 rs104655141
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 185)
# 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 Likely pathogenic rs34159654 GRCh37 Chromosome 12, 102224444: 102224444
4 GNPTAB NM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln) single nucleotide variant Likely 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/Likely pathogenic rs104894641 GRCh37 Chromosome 17, 78184462: 78184462
10 SGSH NM_000199.3(SGSH): c.1298G> A (p.Arg433Gln) single nucleotide variant Pathogenic/Likely 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 NM_000199.3(SGSH): c.1339G> A (p.Glu447Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894639 GRCh37 Chromosome 17, 78184421: 78184421
19 SGSH NM_000199.3(SGSH): c.1339G> A (p.Glu447Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894639 GRCh38 Chromosome 17, 80210622: 80210622
20 SGSH SGSH, 9-BP DEL, NT1307 deletion Pathogenic
21 SGSH SGSH, 11-BP DEL, NT1284 deletion Pathogenic
22 SGSH NM_000199.3(SGSH): c.1105G> A (p.Glu369Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894640 GRCh37 Chromosome 17, 78184655: 78184655
23 SGSH NM_000199.3(SGSH): c.1105G> A (p.Glu369Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104894640 GRCh38 Chromosome 17, 80210856: 80210856
24 SGSH NM_000199.3(SGSH): c.617G> C (p.Arg206Pro) single nucleotide variant Likely pathogenic rs104894643 GRCh37 Chromosome 17, 78188017: 78188017
25 SGSH NM_000199.3(SGSH): c.617G> C (p.Arg206Pro) single nucleotide variant Likely pathogenic rs104894643 GRCh38 Chromosome 17, 80214218: 80214218
26 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh37 Chromosome 17, 78185927: 78185927
27 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh38 Chromosome 17, 80212128: 80212128
28 GNPTAB NM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs) deletion Likely pathogenic rs34901902 GRCh37 Chromosome 12, 102158640: 102158644
29 GNPTAB NM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs) deletion Likely pathogenic rs34901902 GRCh38 Chromosome 12, 101764862: 101764866
30 GNPTAB NM_024312.4(GNPTAB): c.3435-1G> A single nucleotide variant Pathogenic rs281865037 GRCh37 Chromosome 12, 102147318: 102147318
31 GNPTAB NM_024312.4(GNPTAB): c.3435-1G> A single nucleotide variant Pathogenic rs281865037 GRCh38 Chromosome 12, 101753540: 101753540
32 GNPTAB NM_024312.4(GNPTAB): c.569A> T (p.Asp190Val) single nucleotide variant Uncertain significance rs34946266 GRCh37 Chromosome 12, 102179792: 102179792
33 GNPTAB NM_024312.4(GNPTAB): c.569A> T (p.Asp190Val) single nucleotide variant Uncertain significance rs34946266 GRCh38 Chromosome 12, 101786014: 101786014
34 GNPTAB NM_024312.4(GNPTAB): c.832C> T (p.Gln278Ter) single nucleotide variant Pathogenic rs35878526 GRCh37 Chromosome 12, 102164875: 102164875
35 GNPTAB NM_024312.4(GNPTAB): c.832C> T (p.Gln278Ter) single nucleotide variant Pathogenic rs35878526 GRCh38 Chromosome 12, 101771097: 101771097
36 SGSH NM_000199.3(SGSH): c.1081G> A (p.Val361Ile) single nucleotide variant Benign/Likely benign rs9894254 GRCh37 Chromosome 17, 78184679: 78184679
37 SGSH NM_000199.3(SGSH): c.1081G> A (p.Val361Ile) single nucleotide variant Benign/Likely benign rs9894254 GRCh38 Chromosome 17, 80210880: 80210880
38 SGSH NM_000199.3(SGSH): c.1367G> A (p.Arg456His) single nucleotide variant Benign rs7503034 GRCh37 Chromosome 17, 78184393: 78184393
39 SGSH NM_000199.3(SGSH): c.1367G> A (p.Arg456His) single nucleotide variant Benign rs7503034 GRCh38 Chromosome 17, 80210594: 80210594
40 SGSH NM_000199.3(SGSH): c.663+17T> C single nucleotide variant Benign rs6565647 GRCh37 Chromosome 17, 78187954: 78187954
41 SGSH NM_000199.3(SGSH): c.663+17T> C single nucleotide variant Benign rs6565647 GRCh38 Chromosome 17, 80214155: 80214155
42 SGSH NM_000199.3(SGSH): c.97G> A (p.Gly33Arg) single nucleotide variant Uncertain significance rs398123246 GRCh37 Chromosome 17, 78190983: 78190983
43 SGSH NM_000199.3(SGSH): c.97G> A (p.Gly33Arg) single nucleotide variant Uncertain significance rs398123246 GRCh38 Chromosome 17, 80217184: 80217184
44 SGSH NM_000199.3(SGSH): c.1027dupC (p.Leu343Profs) duplication Pathogenic rs778700037 GRCh37 Chromosome 17, 78184733: 78184733
45 SGSH NM_000199.3(SGSH): c.1027dupC (p.Leu343Profs) duplication Pathogenic rs778700037 GRCh38 Chromosome 17, 80210934: 80210934
46 SGSH NM_000199.3(SGSH): c.675C> G (p.Phe225Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34520362 GRCh37 Chromosome 17, 78187673: 78187673
47 SGSH NM_000199.3(SGSH): c.675C> G (p.Phe225Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34520362 GRCh38 Chromosome 17, 80213874: 80213874
48 SGSH NM_000199.3(SGSH): c.1116G> A (p.Met372Ile) single nucleotide variant Benign/Likely benign rs58786455 GRCh38 Chromosome 17, 80210845: 80210845
49 SGSH NM_000199.3(SGSH): c.1116G> A (p.Met372Ile) single nucleotide variant Benign/Likely benign rs58786455 GRCh37 Chromosome 17, 78184644: 78184644
50 SGSH NM_000199.3(SGSH): c.664-36T> C single nucleotide variant Benign rs35087113 GRCh37 Chromosome 17, 78187720: 78187720

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 lysosome organization GO:0007040 9.16 GNPTAB NAGLU
2 glycosaminoglycan catabolic process GO:0006027 8.96 NAGLU SGSH
3 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
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34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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55 Novoseek
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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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