MCID: MCP027
MIFTS: 39

Mucopolysaccharidisis Type Iiia malady

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

Aliases & Classifications for Mucopolysaccharidisis Type Iiia

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Aliases & Descriptions for Mucopolysaccharidisis Type Iiia:

Name: Mucopolysaccharidisis Type Iiia 50 12
Mucopolysaccharidosis Type Iiia 52 68
Mps Iiia 68 48
Mps3a 52 68
Heparan Sulfate Sulfatase Deficiency 68
Mucopolysaccharidosis, Type Iiia 50
Heparan Sulfamidase Deficiency 52
 
Mucopolysaccharidosis Type 3a 52
Sanfilippo Syndrome Type a 52
Mucopolysaccharidosis 3a 68
Sulfamidase Deficiency 68
Sanfilippo Syndrome a 68
Mpsiiia 52

Characteristics:

Orphanet epidemiological data:

52
mucopolysaccharidosis type iiia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Worldwide),1-9/1000000 (Sweden)

HPO:

62
mucopolysaccharidisis type iiia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 252900
Orphanet52 ORPHA79269
ICD10 via Orphanet29 E76.2
MedGen35 C0086647
MeSH37 D009084

Summaries for Mucopolysaccharidisis Type Iiia

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OMIM:50 The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to... (252900) more...

MalaCards based summary: Mucopolysaccharidisis Type Iiia, also known as mucopolysaccharidosis type iiia, is related to heparane sulfamidase deficiency and mucopolysaccharidosis iii, and has symptoms including dense calvaria, coarse facial features and hearing impairment. An important gene associated with Mucopolysaccharidisis Type Iiia is SGSH (N-Sulfoglucosamine Sulfohydrolase), and among its related pathways are Glycosaminoglycan degradation and Lysosome. Affiliated tissues include bone and eye, and related mouse phenotypes are craniofacial and renal/urinary system.

UniProtKB/Swiss-Prot:68 Mucopolysaccharidosis 3A: A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.

Related Diseases for Mucopolysaccharidisis Type Iiia

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Graphical network of diseases related to Mucopolysaccharidisis Type Iiia:



Diseases related to mucopolysaccharidisis type iiia

Symptoms for Mucopolysaccharidisis Type Iiia

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Symptoms by clinical synopsis from OMIM:

252900

Clinical features from OMIM:

252900

HPO human phenotypes related to Mucopolysaccharidisis Type Iiia:

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

Drugs & Therapeutics for Mucopolysaccharidisis Type Iiia

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MelphalanPhase 2697148-82-34053, 460612
Synonyms:
(2S)-2-amino-3-[4-[bis(2-chloroethyl)amino]phenyl]propanoic acid
(2s)-2-amino-3-(4-[bis(2-chloroethyl)amino]phenyl)propanoic acid
148-82-3
3-(P-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
3-P-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3-p-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3025 C.B.
3025 c.b
3223-07-2
4-(Bis(2-chloroethyl)amino)-L-phenylalanine
4-14-00-01689 (Beilstein Handbook Reference)
4-[Bis(2-chloroethyl)amino]-L-phenylalanine
4-[Bis-(2-chloroethyl)amino]-L-phenylalanine
AC1LA2OE
ALKERAN (TN)
AY3360000
Alanine Nitrogen Mustard
Alkeran
AmbotzHAA1563
At-290
BIDD:GT0044
BRD-K87827419-001-02-8
BRN 2816456
BSPBio_002407
C13H18Cl2N2O2
CB 3025
CB-3025
CCRIS 374
CHEBI:165415
CHEBI:28876
CHEMBL852
CID460612
D00369
DivK1c_000653
EINECS 205-726-3
HMS2090B09
HMS2091B16
HMS502A15
HSDB 3234
IDI1_000653
KBio1_000653
KBio2_000877
KBio2_003445
KBio2_006013
KBio3_001627
KBioGR_001284
KBioSS_000877
L-3-(P-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(para-(Bis(2-chloroethyl)amino)phenyl)alanine
L-PAM
L-Phenylalanine mustard
L-Sarcolysin
L-Sarcolysine
L-Sarkolysin
LS-15868
LS-865
 
Levofalan
Levofolan
Levopholan
M2011_SIGMA
MELPHALAN (SEE ALSO TRANSGENIC MODEL EVALUATION (MELPHALAN))
MLS001333666
MLS002153368
Melfalan
Melfalano
Melfalano [INN-Spanish]
Melphalan (JP15/USP/INN)
Melphalan [USAN:INN:BAN:JAN]
Melphalanum
Melphalanum [INN-Latin]
Mephalan
MolPort-003-665-535
NCGC00090757-01
NCGC00090757-02
NCGC00090757-03
NCI-C04853
NINDS_000653
NIOSH/AY3360000
NSC 241286
NSC 8806
NSC-8806
NSC241286
NSC8806
P-Di-(2-chloroethyl)amino-L-phenylalanine
P-L-Sarcolysin
P-N-Bis(2-chloroethyl)amino-L-phenylalanine
Phenylalanine mustard
Phenylalanine nitrogen mustard
Prestwick_1006
RCRA waste no. U150
Rcra waste number U150
SK-15673
SMP2_000174
SMR000058720
SPBio_000287
SPECTRUM1500382
Sarcolysine
Sarkolysin
Spectrum2_000074
Spectrum3_000684
Spectrum4_000882
Spectrum5_001601
Spectrum_000397
TL8001065
TRANSGENIC LEP (MELPHALAN) (SEE ALSO MELPHALAN)
TRANSGENIC MODEL EVALUATION (MELPHALAN)
UNII-Q41OR9510P
melphalan
p-Bis(beta-chloroethyl)aminophenylalanine
p-Di-(2-chloroethyl)amino-L-phenylalanine
p-L-Sarcolysin
p-L-sarcolysine
p-N,N-bis(2-chloroethyl)amino-L-phenylalanine
p-N-Bis(2-chloroethyl)amino-L-phenylalanine
p-N-Di(chloroethyl)aminophenylalanine
p-N-di(chloroethyl)aminophenylala nine
phenylalanine nitrogen mu stard
2
MiconazolePhase 2357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
3
alemtuzumabPhase 2303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
4
HydroxyureaPhase 2208127-07-13657
Synonyms:
1-HYDROXYUREA
127-07-1
4-03-00-00170 (Beilstein Handbook Reference)
55291_FLUKA
AC1L1GF8
AC1Q4ZXK
AI3-51139
BB_SC-7256
BRN 1741548
BSPBio_002164
Bio1_000451
Bio1_000940
Bio1_001429
Biosupressin
C07044
CCRIS 958
CHEBI:44423
CHEMBL467
CID3657
Carbamohydroxamic Acid
Carbamohydroxamic acid
Carbamohydroximic Acid
Carbamohydroximic acid
Carbamohydroxyamic Acid
Carbamohydroxyamic acid
Carbamoyl Oxime
Carbamoyl oxime
Carbamyl Hydroxamate
Carbamyl hydroxamate
Carrbamoyl Oxime
D00341
D006918
DB01005
DRG-0253
DivK1c_000556
Droxia
Droxia (TM)
Droxia (TN)
E0723DBA-5AF3-49D1-B5F6-59420AB87AC9
EINECS 204-821-7
EU-0100596
FT-0083575
H 8627
H0310
H20210
H8627_SIGMA
HMS1920F09
HMS2091L17
HMS501L18
HSDB 6887
HU
HYDREA (TN)
HYDROXY-UREA
Hidrix
Hidroxicarbamida
Hidroxicarbamida [INN-Spanish]
Hydrea
Hydrea (TM)
Hydrea, Biosupressin, Cytodrox, Hydroxyurea
Hydreia
Hydroxicarbamidum
Hydroxycarbamid
Hydroxycarbamide
Hydroxycarbamide (JAN/INN)
Hydroxycarbamidum
Hydroxycarbamidum [INN-Latin]
Hydroxycarbamine
Hydroxyharnstoff
Hydroxyharnstoff [German]
Hydroxylurea
Hydroxyurea
Hydroxyurea (D4)
Hydroxyurea (USP)
Hydroxyurea [USAN:BAN]
Hydroxyurea(d4)
 
Hydura
Hydurea
I05-0250
IDI1_000556
Idrossicarbamide
Idrossicarbamide [DCIT]
Idrossicarbamide [Dcit]
KBio1_000556
KBio2_001389
KBio2_003957
KBio2_006525
KBio3_001384
KBioGR_000383
KBioSS_001389
LS-709
Litaler
Litalir
Lopac-H-8627
Lopac0_000596
MLS001332381
MLS001332382
MLS002153389
MolMap_000029
MolPort-000-003-971
Mylocel
N-(Aminocarbonyl) Hydroxyamine
N-Carbamoylhydroxylamine
N-HYDROXY UREA
N-Hydroxymocovina
N-Hydroxymocovina [Czech]
N-Hydroxyurea
NCGC00015520-01
NCGC00015520-02
NCGC00015520-07
NCGC00093974-01
NCGC00093974-02
NCGC00093974-03
NCGC00093974-04
NCGC00093974-05
NCI C04831
NCI-C04831
NCI60_002773
NCIMech_000139
NHY
NINDS_000556
NSC 32065
NSC32065
Onco-Carbide
Onco-carbide
Oncocarbide
Oxyurea
S-phase/G-1 interface inhibitor
S1896_Selleck
SK 22591
SMR000059149
SPBio_000247
SPECTRUM1500344
SQ 1089
SQ-1089
Siklos
Spectrum2_000064
Spectrum3_000462
Spectrum4_000012
Spectrum5_000836
Spectrum_000909
Sterile Urea
TL8000673
UNII-X6Q56QN5QC
Ureaphil
WLN: ZVMQ
carbamide oxide
hydroxyaminomethanamide
hydroxyurea
nchembio.573-comp3
nchembio.90-comp4
nchembio749-comp3
tetratogen: inhibits ribonucleoside diphosphate reductase
5
ClofarabinePhase 2156123318-82-1119182
Synonyms:
(2R,3R,4S,5R)-5-(6-amino-2-Chloropurin-9-yl)-4-fluoro-2-(hydroxymethyl)oxolan-3-ol
(2R,3R,4S,5R)-5-(6-amino-2-chloropurin-9-yl)-4-fluoro-2-(hydroxymethyl)oxolan-3-ol
123318-82-1
2-Chloro-9-(2-deoxy-2-fluoro-b-D-arabinofuranosyl)-9H-purin-6-amine
2-Chloro-9-(2-deoxy-2-fluoro-beta-D-arabinofuranosyl)-9H-purin-6-amine
2-Chloro-9-(2-deoxy-2-fluoro-beta-D-arabinofuranosyl)adenine
2-Cl-2'-F-araA
2-chloro-9-(2'-Deoxy-2'-fluoro-beta-D-arabinofuranosyl)adenine
2-chloro-9-(2'-deoxy-2'-fluoro-beta-D-arabinofuranosyl)adenine
2-chloro-9-(2-Deoxy-2-fluoro-beta-D-arabinofuranosyl)adenine
3S211048
AC-274
AC1L3OC8
AKOS005063562
Bio-0121
C1-F-Ara-A
CAFdA
CFB
CHEBI:681569
CHEMBL1750
CID119182
CL-F-Ara-a
 
Cl-F-Ara-A
Clofarabin
Clofarabina
Clofarabine
Clofarabine (USAN/INN)
Clofarabine [USAN]
Clofarabinum
Clofarex
Clolar
Clolar (TN)
Clolar, Evoltra, Clofarabine
D03546
DB00631
DB07554
Evoltra
FT-0082882
HMS2090A07
LS-126466
MolPort-005-941-711
S1218_Selleck
UNII-762RDY0Y2H
ZINC03798247
clofarabina
clofarabinum
6Alkylating AgentsPhase 24573
7
BenzocainePhase 217941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
8insulinPhase 1, Phase 24401
9tannic acidNutraceuticalPhase 21794

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
2Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA PatientsCompletedNCT01155778Phase 1, Phase 2
3Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA DiseaseCompletedNCT02060526Phase 2
4Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene TherapyCompletedNCT02053064Phase 1, Phase 2
5Intracerebral Gene Therapy for Sanfilippo Type A SyndromeCompletedNCT01474343Phase 1, Phase 2
6HSCT for High Risk Inherited Inborn ErrorsCompletedNCT00383448Phase 2
7Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIARecruitingNCT02716246Phase 1, Phase 2
8A Treatment Study of Mucopolysaccharidosis Type IIIBRecruitingNCT02754076Phase 1, Phase 2
9Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)Active, not recruitingNCT01299727Phase 1, Phase 2
10Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic DisordersActive, not recruitingNCT01372228Phase 1, Phase 2
11Safety and Efficacy Study for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093Enrolling by invitationNCT02350816Phase 2
12Neurobehavioral Phenotypes in MPS IIICompletedNCT01873911
13A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)CompletedNCT01047306
14Natural History Studies of Mucopolysaccharidosis IIICompletedNCT02037880
15Natural History Study of Patients With MPS IIIARecruitingNCT02746341
16Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool ChildrenRecruitingNCT01938014
17Biomarker for Sanfilippo DiseaseRecruitingNCT02298686
18A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)RecruitingNCT02493998

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Genetic Tests for Mucopolysaccharidisis Type Iiia

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Genetic tests related to Mucopolysaccharidisis Type Iiia:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Iiia23 SGSH

Anatomical Context for Mucopolysaccharidisis Type Iiia

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MalaCards organs/tissues related to Mucopolysaccharidisis Type Iiia:

34
Bone, Eye

Animal Models for Mucopolysaccharidisis Type Iiia or affiliated genes

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MGI Mouse Phenotypes related to Mucopolysaccharidisis Type Iiia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8GNPTAB, NAGLU, SGSH
2MP:00053678.4M6PR, NAGLU, SGSH
3MP:00053908.2GNPTAB, M6PR, NAGLU, SGSH

Publications for Mucopolysaccharidisis Type Iiia

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Variations for Mucopolysaccharidisis Type Iiia

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

68 (show all 56)
id Symbol AA change Variation ID SNP ID
1SGSHp.Tyr40AsnVAR_007388
2SGSHp.Ala44ThrVAR_007389
3SGSHp.Ser66TrpVAR_007390rs104894637
4SGSHp.Arg74CysVAR_007391rs104894636
5SGSHp.Arg74HisVAR_007392rs778336949
6SGSHp.Thr79ProVAR_007393rs779703983
7SGSHp.Gln85ArgVAR_007395
8SGSHp.Gly90ArgVAR_007396rs774010006
9SGSHp.Gly122ArgVAR_007397rs761607612
10SGSHp.Pro128LeuVAR_007398rs104894642
11SGSHp.Val131MetVAR_007399rs370636303
12SGSHp.Thr139MetVAR_007400rs775112689
13SGSHp.Leu146ProVAR_007401rs749358773
14SGSHp.Arg150GlnVAR_007402rs104894638
15SGSHp.Asp179AsnVAR_007403rs774773010
16SGSHp.Arg182CysVAR_007404rs529855742
17SGSHp.Phe193LeuVAR_007405
18SGSHp.Arg206ProVAR_007406rs104894643
19SGSHp.Pro227ArgVAR_007408rs774602372
20SGSHp.Ala234GlyVAR_007409rs113641837
21SGSHp.Asp235ValVAR_007410rs763800418
22SGSHp.Arg245HisVAR_007411rs104894635
23SGSHp.Ser298ProVAR_007412rs138504221
24SGSHp.Thr321AlaVAR_007413rs758756630
25SGSHp.Ala354ProVAR_007414
26SGSHp.Ser364ArgVAR_007416
27SGSHp.Glu369LysVAR_007417rs104894640
28SGSHp.Arg377CysVAR_007418rs772311757
29SGSHp.Arg377HisVAR_007419rs746037899
30SGSHp.Gln380ArgVAR_007420rs144143780
31SGSHp.Leu386ArgVAR_007421
32SGSHp.Asn389LysVAR_007422rs764057581
33SGSHp.Glu447LysVAR_007423rs104894639
34SGSHp.Asp32GluVAR_054670
35SGSHp.Asp32GlyVAR_054671
36SGSHp.Asn42LysVAR_054672
37SGSHp.His84TyrVAR_054673
38SGSHp.Met88ThrVAR_054674
39SGSHp.Ser106ArgVAR_054675
40SGSHp.Arg150TrpVAR_054676
41SGSHp.Leu163ProVAR_054677
42SGSHp.Gly191ArgVAR_054678rs753666460
43SGSHp.Asp235AsnVAR_054679rs753472891
44SGSHp.Gly251AlaVAR_054680rs144461610
45SGSHp.Asp273AsnVAR_054681
46SGSHp.Pro288SerVAR_054682
47SGSHp.Pro293SerVAR_054683rs143947056
48SGSHp.Pro293ThrVAR_054684
49SGSHp.Glu300ValVAR_054685
50SGSHp.Gln307ProVAR_054687
51SGSHp.Ile322SerVAR_054688
52SGSHp.Glu355LysVAR_054689rs766938111
53SGSHp.Tyr374HisVAR_054690
54SGSHp.Arg433GlnVAR_054695rs104894641
55SGSHp.Arg433TrpVAR_054696rs777267343
56SGSHp.Val486PheVAR_054698

Clinvar genetic disease variations for Mucopolysaccharidisis Type Iiia:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1SGSHNM_000199.3(SGSH): c.1027dupC (p.Leu343Profs)duplicationPathogenicrs778700037GRCh37Chr 17, 78184733: 78184733
2GNPTABNM_024312.4(GNPTAB): c.3335+6T> Gsingle nucleotide variantPathogenicrs34788341GRCh37Chr 12, 102151344: 102151344
3GNPTABNM_024312.4(GNPTAB): c.10A> C (p.Lys4Gln)single nucleotide variantPathogenicrs34159654GRCh37Chr 12, 102224444: 102224444
4SGSHNM_000199.3(SGSH): c.892T> C (p.Ser298Pro)single nucleotide variantPathogenicrs138504221GRCh37Chr 17, 78185927: 78185927
5GNPTABNM_024312.4(GNPTAB): c.2051_2055delACTCA (p.Ser685Lysfs)deletionPathogenicrs34901902GRCh37Chr 12, 102158640: 102158644
6GNPTABNM_024312.4(GNPTAB): c.3435-1G> Asingle nucleotide variantPathogenicrs281865037GRCh37Chr 12, 102147318: 102147318
7GNPTABNM_024312.4(GNPTAB): c.569A> T (p.Asp190Val)single nucleotide variantPathogenicrs34946266GRCh37Chr 12, 102179792: 102179792
8GNPTABNM_024312.4(GNPTAB): c.832C> T (p.Gln278Ter)single nucleotide variantPathogenicrs35878526GRCh37Chr 12, 102164875: 102164875
9SGSHNM_000199.3(SGSH): c.734G> A (p.Arg245His)single nucleotide variantPathogenicrs104894635GRCh37Chr 17, 78187614: 78187614
10SGSHNM_000199.3(SGSH): c.220C> T (p.Arg74Cys)single nucleotide variantPathogenicrs104894636GRCh37Chr 17, 78190860: 78190860
11SGSHNM_000199.3(SGSH): c.1298G> A (p.Arg433Gln)single nucleotide variantPathogenicrs104894641GRCh37Chr 17, 78184462: 78184462
12SGSHNM_000199.3(SGSH): c.383C> T (p.Pro128Leu)single nucleotide variantPathogenicrs104894642GRCh37Chr 17, 78188537: 78188537
13SGSHNM_000199.3(SGSH): c.197C> G (p.Ser66Trp)single nucleotide variantPathogenicrs104894637GRCh37Chr 17, 78190883: 78190883
14SGSHSGSH, 1-BP DEL, 1091CdeletionPathogenic
15SGSHNM_000199.3(SGSH): c.449G> A (p.Arg150Gln)single nucleotide variantPathogenicrs104894638GRCh37Chr 17, 78188471: 78188471
16SGSHNM_000199.3(SGSH): c.1339G> A (p.Glu447Lys)single nucleotide variantPathogenicrs104894639GRCh37Chr 17, 78184421: 78184421
17SGSHSGSH, 9-BP DEL, NT1307deletionPathogenic
18SGSHSGSH, 11-BP DEL, NT1284deletionPathogenic
19SGSHNM_000199.3(SGSH): c.1105G> A (p.Glu369Lys)single nucleotide variantPathogenicrs104894640GRCh37Chr 17, 78184655: 78184655
20SGSHNM_000199.3(SGSH): c.617G> C (p.Arg206Pro)single nucleotide variantPathogenicrs104894643GRCh37Chr 17, 78188017: 78188017

Expression for genes affiliated with Mucopolysaccharidisis Type Iiia

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

Pathways for genes affiliated with Mucopolysaccharidisis Type Iiia

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2NAGLU, SGSH
28.2GNPTAB, M6PR, NAGLU, SGSH

GO Terms for genes affiliated with Mucopolysaccharidisis Type Iiia

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.3NAGLU, SGSH
2lysosomeGO:00057649.2NAGLU, SGSH

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

idNameGO IDScoreTop Affiliating Genes
1secretion of lysosomal enzymesGO:00332999.6GNPTAB, M6PR
2glycosaminoglycan catabolic processGO:00060279.5NAGLU, SGSH
3lysosome organizationGO:00070409.1GNPTAB, NAGLU

Sources for Mucopolysaccharidisis Type Iiia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet