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MPS3A
MCID: MCP043
MIFTS: 61

Mucopolysaccharidosis, Type Iiia (MPS3A)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Mucopolysaccharidosis, Type Iiia

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MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiia:

Name: Mucopolysaccharidosis, Type Iiia 57 39
Mucopolysaccharidosis Type Iiia 57 12 20 58 72 15 70
Mps3a 57 12 20 58 72
Mps Iiia 57 20 72 54
Heparan Sulfate Sulfatase Deficiency 57 20 72
Heparan Sulfamidase Deficiency 12 20 58
Mucopolysaccharidosis Type 3a 12 20 58
Sanfilippo Syndrome Type a 12 20 58
Sulfamidase Deficiency 57 72 6
Sanfilippo Syndrome a 57 20 72
Mpsiiia 12 20 58
Heparane Sulfamidase Deficiency 20
Mucopoly-Saccharidosis Type 3a 20
Mucopolysaccharidosis Iii-a 12
Mucopolysaccharidosis Iii 70
Mucopolysaccharidosis 3a 72
Mps Iii-a 73
Mps 3a 20

Characteristics:

Orphanet epidemiological data:

58
sanfilippo syndrome type a
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Worldwide),1-9/1000000 (Sweden);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
four clinically indistinguishable biochemically distinct forms


HPO:

31
mucopolysaccharidosis, type iiia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Bone diseases Respiratory diseases Skin diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111395
OMIM® 57 252900
OMIM Phenotypic Series 57 PS607014
MeSH 44 D009084
NCIt 50 C84897
SNOMED-CT 67 254070003
ICD10 32 E76.22
ICD10 via Orphanet 33 E76.2
UMLS via Orphanet 71 C0086647
Orphanet 58 ORPHA79269
MedGen 41 C0086647
UMLS 70 C0026706 C0086647
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Summaries for Mucopolysaccharidosis, Type Iiia

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GARD : 20 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 mucopolysaccharidoses, 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 Metabolism and Glycosaminoglycan metabolism. The drugs Lysine and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are intellectual disability and sleep disturbance

Disease Ontology : 12 A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has material basis in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more...

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Related Diseases for Mucopolysaccharidosis, Type Iiia

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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

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis iii 31.1 TFEB SUMF1 SLC26A11 SGSH NAGLU MCOLN1
2 mucopolysaccharidoses 30.8 SGSH NAGLU IDUA HGSNAT GUSB CARD14
3 kluver-bucy syndrome 30.6 SGSH NAGLU HGSNAT
4 morquio syndrome 30.5 GUSB GALNS ARSH
5 mucopolysaccharidosis-plus syndrome 30.2 TFEB SUMF1 SGSH NAGLU MCOLN1 M6PR
6 mucopolysaccharidosis, type iiic 29.9 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
7 hurler syndrome 29.8 SUMF1 NAGLU IDUA IDS GUSB GNS
8 lysosomal storage disease 29.8 SUMF1 SGSH NAGLU MCOLN1 M6PR IDUA
9 mucopolysaccharidosis iv 29.6 SUMF1 SGSH NAGLU M6PR IDUA IDS
10 mucopolysaccharidosis, type iiib 29.6 TFEB SUMF1 SGSH NAGLU M6PR LAMP1
11 charcot-marie-tooth disease, axonal, type 2v 10.3 NAGLU GNPTAB
12 mongolian spot 10.3 NAGLU IDUA
13 mucolipidoses 10.3 MCOLN1 GNPTAB
14 mannosidosis, alpha b, lysosomal 10.3 SGSH IDUA GUSB
15 galactosialidosis 10.3 M6PR IDUA GALNS
16 mucolipidosis iii gamma 10.3 M6PR GNPTAB
17 lysosomal and lipase deficiency 10.3 TFEB M6PR
18 leukodystrophy 10.3 SUMF1 IDUA ARSH ARSB
19 pityriasis rubra pilaris 10.3 SGSH CARD14
20 glycoproteinosis 10.2 LAMP1 GALNS ARSB
21 glycogen storage disease ii 10.2 TFEB M6PR IDUA
22 fucosidosis 10.2 NAGLU IDUA GALNS ARSB
23 mucolipidosis iv 10.2 TFEB MCOLN1 LAMP1
24 fabry disease 10.2 M6PR LAMP1 GUSB
25 multiple sulfatase deficiency 10.2 SUMF1 GNS GALNS ARSH ARSB
26 krabbe disease 10.2 SGSH M6PR IDUA IDS ARSB
27 gm2-gangliosidosis, ab variant 10.1 TFEB GNPTAB
28 niemann-pick disease 10.1 TFEB MCOLN1 M6PR LAMP1
29 hurler-scheie syndrome 10.1 SUMF1 SGSH NAGLU IDUA GALNS ARSB
30 neuronal ceroid lipofuscinosis 10.1 TFEB SGSH MCOLN1 M6PR LAMP1
31 c syndrome 10.1 TFEB MCOLN1 M6PR LAMP1 HGSNAT
32 mucolipidosis iii alpha/beta 10.1 NAGLU MCOLN1 M6PR GUSB GNPTAB ARSB
33 dysembryoplastic neuroepithelial tumor 10.1 NES MAP2
34 gm1 gangliosidosis 10.1 SUMF1 SGSH NAGLU M6PR IDUA GALNS
35 tay-sachs disease 10.1 TFEB SGSH MCOLN1 M6PR IDUA IDS
36 metachromatic leukodystrophy 10.0 SUMF1 SGSH M6PR IDUA IDS ARSH
37 gaucher's disease 10.0 TFEB M6PR LAMP1 IDUA GUSB ARSH
38 pectus excavatum 10.0
39 autosomal recessive disease 10.0
40 autism spectrum disorder 10.0
41 monocular esotropia 10.0
42 central nervous system disease 10.0
43 nervous system disease 10.0
44 esotropia 10.0
45 cerebral atrophy 10.0
46 spasticity 10.0
47 lysosomal disease 10.0
48 ceroid lipofuscinosis, neuronal, 3 10.0 TFEB SUMF1 SGSH NAGLU MCOLN1 M6PR
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
50 mucopolysaccharidosis, type iiid 10.0 SUMF1 SGSH NAGLU IDUA IDS HGSNAT

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



Diseases related to Mucopolysaccharidosis, Type Iiia
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Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iiia

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Human phenotypes related to Mucopolysaccharidosis, Type Iiia:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 sleep disturbance 31 HP:0002360
3 coarse facial features 31 HP:0000280
4 hearing impairment 31 HP:0000365
5 splenomegaly 31 HP:0001744
6 hepatomegaly 31 HP:0002240
7 joint stiffness 31 HP:0001387
8 coarse hair 31 HP:0002208
9 dysostosis multiplex 31 HP:0000943
10 recurrent upper respiratory tract infections 31 HP:0002788
11 synophrys 31 HP:0000664
12 diarrhea 31 HP:0002014
13 heparan sulfate excretion in urine 31 HP:0002159
14 hirsutism 31 HP:0001007
15 hyperactivity 31 HP:0000752
16 ovoid thoracolumbar vertebrae 31 HP:0003309
17 dense calvaria 31 HP:0000250
18 thickened ribs 31 HP:0000900
19 growth abnormality 31 HP:0001507
20 seizure 31 HP:0001250
21 asymmetric septal hypertrophy 31 HP:0001670

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hyperactivity
mental retardation
slowing mental development by 1.5 to 3 years
sleep disturbances, common

Head And Neck Eyes:
synophrys
clear corneas

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

Skeletal Skull:
dense calvaria

Cardiovascular Heart:
asymmetric septal hypertrophy

Growth Other:
usually normal stature

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Abdomen Spleen:
splenomegaly, mild

Skeletal Limbs:
joint stiffness, mild

Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism

Abdomen Gastrointestinal:
diarrhea

Skeletal Spine:
ovoid thoracolumbar vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
thickened ribs

Head And Neck Ears:
hearing loss

Head And Neck Face:
coarse facies, mild

Abdomen Liver:
hepatomegaly, mild

Skeletal:
dysostosis multiplex, mild

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems, severe, at age 3-4

Clinical features from OMIM®:

252900 (Updated 05-Apr-2021)

UMLS symptoms related to Mucopolysaccharidosis, Type Iiia:


seizures; joint stiffness; diarrhea

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Iiia:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 ARSB GNPTAB GNS GUSB HGSNAT IDS
2 cellular MP:0005384 10.36 ARSB CARD14 GALNS GNPTAB GNS GUSB
3 growth/size/body region MP:0005378 10.32 ARSB CARD14 GNPTAB GUSB HGSNAT IDS
4 cardiovascular system MP:0005385 10.26 ARSB CARD14 GNPTAB HGSNAT IDUA M6PR
5 hematopoietic system MP:0005397 10.25 ARSB CARD14 GNPTAB GNS GUSB HGSNAT
6 mortality/aging MP:0010768 10.2 CARD14 GNPTAB GNS GUSB HGSNAT IDS
7 craniofacial MP:0005382 10.15 ARSB GNPTAB GUSB IDS IDUA LAMP1
8 integument MP:0010771 10.1 CARD14 GNPTAB GUSB IDS IDUA LAMP1
9 adipose tissue MP:0005375 10.09 ARSB GUSB HGSNAT IDUA MCOLN1 SGSH
10 nervous system MP:0003631 10.07 ARSB GNPTAB GNS HGSNAT IDS IDUA
11 limbs/digits/tail MP:0005371 9.97 ARSB GNPTAB GUSB HGSNAT IDS IDUA
12 hearing/vestibular/ear MP:0005377 9.93 ARSB GUSB IDS IDUA NAGLU TFEB
13 renal/urinary system MP:0005367 9.9 ARSB GALNS GNPTAB GUSB HGSNAT IDS
14 skeleton MP:0005390 9.77 ARSB GALNS GNPTAB GUSB HGSNAT IDS
15 vision/eye MP:0005391 9.32 ARSB GALNS GNPTAB IDS IDUA M6PR
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Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiia

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lysine Approved, Nutraceutical Phase 2, Phase 3 56-87-1 5962
2 Antirheumatic Agents Phase 2, Phase 3
3 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
4
Hydroxyurea Approved Phase 2 127-07-1 3657
5
Melphalan Approved Phase 2 148-82-3 4053 460612
6
tannic acid Approved Phase 2 1401-55-4
7
alemtuzumab Approved, Investigational Phase 2 216503-57-0
8
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
9
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
12 Alkylating Agents Phase 2
13 Immunosuppressive Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Cyclosporins Phase 2
16 Immunologic Factors Phase 2
17 Antineoplastic Agents, Immunological Phase 2
18 Dermatologic Agents Phase 2
19 Antimetabolites Phase 2
20 Calcineurin Inhibitors Phase 2
21 Antifungal Agents Phase 2
22 Pharmaceutical Solutions Phase 1, Phase 2
23 insulin Phase 2
24 Mitogens Phase 2
25 Insulin, Globin Zinc Phase 2

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Open-label, Single-arm, Multi-center Study of Intracerebral Administration of Adeno-associated Viral (AAV) Serotype rh.10 Carrying Human N-sulfoglucosamine Sulfohydrolase (SGSH) cDNA for Treatment of Mucopolysaccharidosis Type IIIA Active, not recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
2 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Active, not recruiting NCT04018755 Phase 2, Phase 3
3 An Open, Non-controlled, Parallel, Ascending Multiple-dose, Multicenter Study to Assess Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of SOBI003 in Pediatric MPS IIIA Patients Completed NCT03423186 Phase 1, Phase 2 SOBI003
4 A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA Disease Completed NCT02060526 Phase 2 Recombinant human heparan N-sulfatase [rhHNS]
5 A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01155778 Phase 1, Phase 2
6 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT02754076 Phase 1, Phase 2 AX 250
7 Protocol AMT110-CD-001: A Phase I/II, Open-label, Study of Intracerebral Administration of Adeno-associated Viral Vector Containing the Human Alpha-N-acetylglucosaminidase cDNA in Children With Sanfilippo Type B Syndrome Completed NCT03300453 Phase 1, Phase 2 rAAV2/5-hNAGLU
8 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
9 A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Completed NCT02324049 Phase 1, Phase 2 SBC-103
10 An Open-label, Single Arm, Monocentric, Phase I/II Clinical Study of Intracerebral Administration of Adeno-associated Viral Vector Serotype 10 Carrying the Human SGSH and SUMF1 cDNAs for the Treatment of Sanfilippo Type A Syndrome. Completed NCT01474343 Phase 1, Phase 2
11 Long-term Follow-up of Patients With Sanfilippo Type A Syndrome Who Have Previously Been Treated in the P1-SAF-301 Clinical Study Evaluating the Tolerability and Safety of the Intracerebral Administration of SAF-301. Completed NCT02053064 Phase 1, Phase 2
12 A Phase I-II, Study of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With CD11b Lentiviral Vector Encoding for Human SGSH in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIa, Sanfilippo Syndrome Type A) Recruiting NCT04201405 Phase 1, Phase 2 Autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH gene
13 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA Recruiting NCT02716246 Phase 1, Phase 2
14 A Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients With Middle and Advanced Phases of MPS IIIA Disease Recruiting NCT04088734 Phase 1, Phase 2 ABO-102
15 Phase I/II Gene Transfer Clinical Trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
16 An Open, Single-arm, Multicenter Extension Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients Active, not recruiting NCT03811028 Phase 1, Phase 2 SOBI003
17 A Multicenter, Multinational, Extension Study to Evaluate the Long Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Active, not recruiting NCT03784287 Phase 2 AX 250
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Mucopolysaccharidosis Type IIIA Disease Terminated NCT02350816 Phase 2 HGT-1410
20 An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Terminated NCT01299727 Phase 1, Phase 2
21 A Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Terminated NCT02618512 Phase 1, Phase 2 SBC-103
22 An Observational, Prospective, Multi-center, Natural History Study of Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA) Unknown status NCT02746341
23 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
24 A Longitudinal, Prospective, Natural History Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
25 Characterizing the Neurobehavioral Phenotype(s) in MPS III Completed NCT01873911
26 An Observational Prospective Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT01509768
27 A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB Completed NCT02293382
28 A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Completed NCT02493998
29 Behavioral Challenges in Children With Mucopolysaccharidosis Type I-III and Parental Coping Strategies Completed NCT03161171
30 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
31 Evaluation of Blood Brain Barrier Integrity and Relationship to Structural Brain Abnormalities in MPS IIIB Patients Using Cerebrospinal Fluid/Serum Albumin Index (CSF-AI) and Multimodal Magnetic Resonance Imaging Completed NCT02090179
32 A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) Recruiting NCT04360265
33 A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) Recruiting NCT04655911
34 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT03227042
35 A Prospective Cross-Sectional and Longitudinal Study With Additional Retrospective Chart Review to Evaluate Clinical and Biochemical Characteristics and Disease Progression in Patients With Mucopolysaccharidosis Type IIIB Terminated NCT02293408

Search NIH Clinical Center for Mucopolysaccharidosis, Type Iiia

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Genetic Tests for Mucopolysaccharidosis, Type Iiia

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Anatomical Context for Mucopolysaccharidosis, Type Iiia

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MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiia:

40
Eye, Spinal Cord, Brain, Liver, Skin, Bone Marrow, Bone
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Publications for Mucopolysaccharidosis, Type Iiia

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Articles related to Mucopolysaccharidosis, Type Iiia:

(show top 50) (show all 179)
# Title Authors PMID Year
1
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. 6 57 61
21061399 2010
2
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. 57 6
10727844 2000
3
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). 54 6 61
18407553 2008
4
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. 6 61 54
15146460 2004
5
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA. 6 61
30593151 2018
6
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA. 61 6
29023963 2017
7
A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. 61 6
26787381 2016
8
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome). 61 6
25807448 2015
9
Development of cerebellar pathology in the canine model of mucopolysaccharidosis type IIIA (MPS IIIA). 57 61
25453402 2014
10
Tachypnea of infancy as the first sign of Sanfilippo syndrome. 6 61
25113300 2014
11
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA. 61 6
24816101 2014
12
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. 61 6
21671382 2011
13
A block of autophagy in lysosomal storage disorders. 61 57
17913701 2008
14
Development of motor deficits in a murine model of mucopolysaccharidosis type IIIA (MPS-IIIA). 61 57
15698885 2005
15
Analysis of Sanfilippo A gene mutations in a large pedigree. 6 61
12702166 2003
16
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). 61 6
12000360 2002
17
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. 61 6
11668611 2001
18
Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling. 57 61
10518291 1999
19
Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. 6 61
9700599 1998
20
Molecular defects in Sanfilippo syndrome type A. 6 61
9158154 1997
21
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). 6 61
9401012 1997
22
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
23
Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series. 6
28844463 2017
24
Epidemiology of mucopolysaccharidoses. 57
28595941 2017
25
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design. 6
27590925 2016
26
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene. 6
26331342 2016
27
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 6
25557439 2015
28
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 6
26075876 2015
29
Sanfilippo syndrome: causes, consequences, and treatments. 6
26648750 2015
30
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 6
24875751 2014
31
Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease. 6
24347096 2014
32
Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report. 6
24576347 2014
33
Natural history of Sanfilippo syndrome in Spain. 6
24314109 2013
34
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 6
22976768 2013
35
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. 6
23084433 2012
36
Response to subspecialty training in preventive cardiology: the current status and discoverable fellowship programs. 6
22976788 2012
37
Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated. 6
22002444 2012
38
Carotid intima-media thickness is increased in patients with mucopolysaccharidoses. 6
21963080 2011
39
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. 6
21910976 2011
40
Combined Hurler and Sanfilippo syndrome in a sibling pair. 6
21393040 2011
41
Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients. 6
21455105 2011
42
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
43
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. 6
21204211 2011
44
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology. 6
19383612 2009
45
[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)]. 6
19099774 2008
46
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. 6
17128482 2006
47
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene. 6
15637719 2005
48
Expression and functional characterization of human mutant sulfamidase in insect cells. 6
15542396 2004
49
Incidence of the mucopolysaccharidoses in Western Australia. 57
14608657 2003
50
The frequency of common mutations among patients with mucopolysaccharidosis types I, II and IIIA diagnosed in Austria over the last 17 years. 6
11903343 2001
Sources

Variations for Mucopolysaccharidosis, Type Iiia

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ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiia:

6 (show top 50) (show all 275)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNPTAB NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) SNV Pathogenic 2774 rs34159654 GRCh37: 12:102224444-102224444
GRCh38: 12:101830666-101830666
2 GNPTAB NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) Deletion Pathogenic 38417 rs34901902 GRCh37: 12:102158638-102158642
GRCh38: 12:101764860-101764864
3 GNPTAB NM_024312.5(GNPTAB):c.3335+6T>G SNV Pathogenic 2773 rs34788341 GRCh37: 12:102151344-102151344
GRCh38: 12:101757566-101757566
4 GNPTAB NM_024312.5(GNPTAB):c.3435-1G>A SNV Pathogenic 38427 rs281865037 GRCh37: 12:102147318-102147318
GRCh38: 12:101753540-101753540
5 GNPTAB NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) SNV Pathogenic 38431 rs34946266 GRCh37: 12:102179792-102179792
GRCh38: 12:101786014-101786014
6 GNPTAB NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) SNV Pathogenic 38433 rs35878526 GRCh37: 12:102164875-102164875
GRCh38: 12:101771097-101771097
7 SGSH NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) SNV Pathogenic 5110 rs104894642 GRCh37: 17:78188537-78188537
GRCh38: 17:80214738-80214738
8 SGSH SGSH, 1-BP DEL, 1091C Deletion Pathogenic 5112 GRCh37:
GRCh38:
9 SGSH SGSH, 9-BP DEL, NT1307 Deletion Pathogenic 5115 GRCh37:
GRCh38:
10 SGSH SGSH, 11-BP DEL, NT1284 Deletion Pathogenic 5116 GRCh37:
GRCh38:
11 SGSH NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) Deletion Pathogenic 287037 rs752914124 GRCh37: 17:78184478-78184488
GRCh38: 17:80210679-80210689
12 SGSH NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) SNV Pathogenic 383967 rs1057521801 GRCh37: 17:78187675-78187675
GRCh38: 17:80213876-80213876
13 SGSH NM_000199.5(SGSH):c.763del (p.Gln255fs) Deletion Pathogenic 437445 rs1555620827 GRCh37: 17:78186056-78186056
GRCh38: 17:80212257-80212257
14 SGSH NM_000199.5(SGSH):c.578T>C (p.Phe193Ser) SNV Pathogenic 523016 rs1555621662 GRCh37: 17:78188056-78188056
GRCh38: 17:80214257-80214257
15 SGSH NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) SNV Pathogenic 279891 rs144143780 GRCh37: 17:78184621-78184621
GRCh38: 17:80210822-80210822
16 SGSH NM_000199.5(SGSH):c.376dup (p.Val126fs) Duplication Pathogenic 552173 rs1555621971 GRCh37: 17:78188543-78188544
GRCh38: 17:80214744-80214745
17 SGSH NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) SNV Pathogenic 557068 rs1555621659 GRCh37: 17:78188052-78188052
GRCh38: 17:80214253-80214253
18 SGSH NM_000199.5(SGSH):c.89-2A>G SNV Pathogenic 634541 rs1369704445 GRCh37: 17:78190993-78190993
GRCh38: 17:80217194-80217194
19 SGSH NM_000199.5(SGSH):c.402dup (p.Asp135Ter) Duplication Pathogenic 646114 rs1598749984 GRCh37: 17:78188517-78188518
GRCh38: 17:80214718-80214719
20 SGSH , SLC26A11 NM_000199.5(SGSH):c.1A>C (p.Met1Leu) SNV Pathogenic 694732 rs1250300189 GRCh37: 17:78194112-78194112
GRCh38: 17:80220313-80220313
21 SGSH NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) SNV Pathogenic 654350 rs1598749661 GRCh37: 17:78188430-78188430
GRCh38: 17:80214631-80214631
22 SGSH NC_000017.11:g.(?_80213794)_(80215148_?)del Deletion Pathogenic 832945 GRCh37: 17:78187593-78188947
GRCh38:
23 SGSH NM_000199.5(SGSH):c.1135del (p.Val379fs) Deletion Pathogenic 280988 rs777956287 GRCh37: 17:78184625-78184625
GRCh38: 17:80210826-80210826
24 SGSH NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) SNV Pathogenic 559103 rs772311757 GRCh37: 17:78184631-78184631
GRCh38: 17:80210832-80210832
25 CARD14 , SGSH NM_000199.5(SGSH):c.734G>A (p.Arg245His) SNV Pathogenic 5107 rs104894635 GRCh37: 17:78187614-78187614
GRCh38: 17:80213815-80213815
26 SGSH NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) SNV Pathogenic 30459 rs138504221 GRCh37: 17:78185927-78185927
GRCh38: 17:80212128-80212128
27 SGSH NM_000199.5(SGSH):c.1027dup (p.Leu343fs) Duplication Pathogenic 198694 rs778700037 GRCh37: 17:78184732-78184733
GRCh38: 17:80210933-80210934
28 SGSH NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) SNV Pathogenic 5111 rs104894637 GRCh37: 17:78190883-78190883
GRCh38: 17:80217084-80217084
29 SGSH NM_000199.5(SGSH):c.1080del (p.Val361fs) Deletion Pathogenic 518268 rs770947426 GRCh37: 17:78184680-78184680
GRCh38: 17:80210881-80210881
30 SGSH NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) SNV Pathogenic/Likely pathogenic 518269 rs761607612 GRCh37: 17:78188556-78188556
GRCh38: 17:80214757-80214757
31 SGSH NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) SNV Pathogenic/Likely pathogenic 5114 rs104894639 GRCh37: 17:78184421-78184421
GRCh38: 17:80210622-80210622
32 SGSH NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) SNV Pathogenic/Likely pathogenic 265258 rs143947056 GRCh37: 17:78185942-78185942
GRCh38: 17:80212143-80212143
33 SGSH NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) SNV Pathogenic/Likely pathogenic 370732 rs374621913 GRCh37: 17:78187651-78187651
GRCh38: 17:80213852-80213852
34 SGSH NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) SNV Pathogenic/Likely pathogenic 5108 rs104894636 GRCh37: 17:78190860-78190860
GRCh38: 17:80217061-80217061
35 SGSH NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) SNV Pathogenic/Likely pathogenic 5109 rs104894641 GRCh37: 17:78184462-78184462
GRCh38: 17:80210663-80210663
36 SGSH , SLC26A11 NM_000199.5(SGSH):c.1A>G (p.Met1Val) SNV Pathogenic/Likely pathogenic 552260 rs1250300189 GRCh37: 17:78194112-78194112
GRCh38: 17:80220313-80220313
37 SGSH NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) Insertion Pathogenic/Likely pathogenic 92608 rs398123244 GRCh37: 17:78184615-78184616
GRCh38: 17:80210816-80210817
38 SGSH NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) SNV Pathogenic/Likely pathogenic 553004 rs753472891 GRCh37: 17:78187645-78187645
GRCh38: 17:80213846-80213846
39 SGSH , SLC26A11 NM_000199.5(SGSH):c.2T>C (p.Met1Thr) SNV Pathogenic/Likely pathogenic 488839 rs1488660868 GRCh37: 17:78194111-78194111
GRCh38: 17:80220312-80220312
40 SGSH NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) SNV Pathogenic/Likely pathogenic 550252 rs1555620214 GRCh37: 17:78184594-78184594
GRCh38: 17:80210795-80210795
41 SGSH NM_000199.5(SGSH):c.221G>A (p.Arg74His) SNV Pathogenic/Likely pathogenic 550504 rs778336949 GRCh37: 17:78190859-78190859
GRCh38: 17:80217060-80217060
42 SGSH NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) SNV Pathogenic/Likely pathogenic 550542 rs774010006 GRCh37: 17:78188919-78188919
GRCh38: 17:80215120-80215120
43 SGSH NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) SNV Pathogenic/Likely pathogenic 523015 rs529855742 GRCh37: 17:78188090-78188090
GRCh38: 17:80214291-80214291
44 SGSH NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) SNV Pathogenic/Likely pathogenic 551014 rs777267343 GRCh37: 17:78184463-78184463
GRCh38: 17:80210664-80210664
45 SGSH NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) SNV Pathogenic/Likely pathogenic 5113 rs104894638 GRCh37: 17:78188471-78188471
GRCh38: 17:80214672-80214672
46 SGSH NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) SNV Likely pathogenic 5118 rs104894643 GRCh37: 17:78188017-78188017
GRCh38: 17:80214218-80214218
47 SGSH NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) SNV Likely pathogenic 550465 rs764057581 GRCh37: 17:78184593-78184593
GRCh38: 17:80210794-80210794
48 SGSH NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter) SNV Likely pathogenic 550040 rs1424242431 GRCh37: 17:78184622-78184622
GRCh38: 17:80210823-80210823
49 SGSH NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) SNV Likely pathogenic 550048 rs1555620141 GRCh37: 17:78184452-78184452
GRCh38: 17:80210653-80210653
50 SGSH NM_000199.5(SGSH):c.1429del (p.Asp477fs) Deletion Likely pathogenic 552591 rs781572815 GRCh37: 17:78184331-78184331
GRCh38: 17:80210532-80210532

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

72 (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 rs142869941
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 rs147983153
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

Sources

Expression for Mucopolysaccharidosis, Type Iiia

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

Pathways for Mucopolysaccharidosis, Type Iiia

About this section

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.76 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
2
Glycosaminoglycan metabolism 65
Show member pathways
 12.55 SGSH NAGLU IDUA IDS GUSB GNS
3
Chondroitin sulfate/dermatan sulfate metabolism 65
Show member pathways
 12.14 SGSH NAGLU IDUA IDS GUSB ARSB
4
Lysosome 36
11.58 SUMF1 SGSH NAGLU MCOLN1 M6PR LAMP1
5
Gamma carboxylation, hypusine formation and arylsulfatase activation 65
Show member pathways
 11.53 SUMF1 ARSH ARSB
6
Glycosaminoglycan degradation 36
Show member pathways
 10.91 SGSH NAGLU IDUA IDS HGSNAT GUSB
Sources

GO Terms for Mucopolysaccharidosis, Type Iiia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 SLC26A11 SGSH NAGLU LAMP1 IDUA GUSB
2 lysosomal membrane GO:0005765 9.63 TFEB SLC26A11 MCOLN1 M6PR LAMP1 HGSNAT
3 late endosome GO:0005770 9.58 MCOLN1 M6PR LAMP1
4 azurophil granule lumen GO:0035578 9.56 GUSB GNS GALNS ARSB
5 lysosomal lumen GO:0043202 9.56 SGSH NAGLU IDUA IDS GUSB GNS
6 ficolin-1-rich granule lumen GO:1904813 9.54 GUSB GNS ARSB
7 lysosome GO:0005764 9.47 TFEB SLC26A11 SGSH NAGLU MCOLN1 M6PR

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 LAMP1 HGSNAT GUSB GNS GALNS ARSB
2 glycosaminoglycan metabolic process GO:0030203 9.46 SGSH GNS
3 keratan sulfate catabolic process GO:0042340 9.43 GNS GALNS
4 lysosomal transport GO:0007041 9.43 M6PR HGSNAT ARSB
5 regulation of organelle transport along microtubule GO:1902513 9.4 MAP2 LAMP1
6 secretion of lysosomal enzymes GO:0033299 9.37 M6PR GNPTAB
7 chondroitin sulfate catabolic process GO:0030207 9.33 IDUA IDS ARSB
8 lysosome organization GO:0007040 9.26 TFEB NAGLU GNPTAB ARSB
9 glycosaminoglycan catabolic process GO:0006027 9.17 SGSH NAGLU IDUA IDS HGSNAT GUSB

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.91 SGSH NAGLU IDUA IDS GUSB GNS
2 catalytic activity GO:0003824 9.8 SGSH IDS GNS GALNS ARSH ARSB
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.58 NAGLU IDUA GUSB
4 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.37 SGSH GNS
5 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.16 GALNS ARSB
6 arylsulfatase activity GO:0004065 9.13 GALNS ARSH ARSB
7 sulfuric ester hydrolase activity GO:0008484 9.1 SGSH IDS GNS GALNS ARSH ARSB
Sources

Sources for Mucopolysaccharidosis, Type Iiia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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