MCID: MCP027
MIFTS: 32

Mucopolysaccharidisis Type Iiia malady

Category: Genetic diseases (common)

Aliases & Classifications for Mucopolysaccharidisis Type Iiia

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Aliases & Descriptions for Mucopolysaccharidisis Type Iiia:

Name: Mucopolysaccharidisis Type Iiia 49 11
Mucopolysaccharidosis Type Iiia 67 65
Heparan Sulfate Sulfatase Deficiency 67
Mucopolysaccharidosis 3a 67
 
Sulfamidase Deficiency 67
Sanfilippo Syndrome a 67
Mps Iiia 67
Mps3a 67

Characteristics:

HPO:

61
mucopolysaccharidisis type iiia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 252900
MedGen34 C0086647
MeSH36 D009084

Summaries for Mucopolysaccharidisis Type Iiia

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OMIM:49 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 ovoid thoracolumbar vertebrae, recurrent upper respiratory tract infections and sleep disturbance. An important gene associated with Mucopolysaccharidisis Type Iiia is SGSH (N-Sulfoglucosamine Sulfohydrolase), and among its related pathways are Glycosaminoglycan degradation and Lysosome. Related mouse phenotypes are renal/urinary system and craniofacial.

UniProtKB/Swiss-Prot:67 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 ovoid thoracolumbar vertebrae HP:0003309
2 recurrent upper respiratory tract infections HP:0002788
3 sleep disturbance HP:0002360
4 hepatomegaly HP:0002240
5 coarse hair HP:0002208
6 heparan sulfate excretion in urine HP:0002159
7 diarrhea HP:0002014
8 splenomegaly HP:0001744
9 asymmetric septal hypertrophy HP:0001670
10 growth abnormality HP:0001507
11 joint stiffness HP:0001387
12 seizures HP:0001250
13 intellectual disability HP:0001249
14 hirsutism HP:0001007
15 dysostosis multiplex HP:0000943
16 thickened ribs HP:0000900
17 hyperactivity HP:0000752
18 synophrys HP:0000664
19 hearing impairment HP:0000365
20 coarse facial features HP:0000280
21 dense calvaria HP:0000250

Drugs & Therapeutics for Mucopolysaccharidisis Type Iiia

About this section

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

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
alemtuzumabapproved, investigationalPhase 2302216503-57-0
Synonyms:
Campath
 
Lemtrada
Mabcampath
alemtuzumab
2
HydroxyureaapprovedPhase 2188127-07-13657
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
3
MelphalanapprovedPhase 2685148-82-34053, 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 Hydrochloride
Melphalan [USAN:INN:BAN:JAN]
Melphalan hydrochloride
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
4
Miconazoleapproved, investigationalPhase 2302622916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
5
Clofarabineapproved, investigationalPhase 2153123318-82-1119182
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
6
BenzocaineapprovedPhase 216841994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
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
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
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]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
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
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
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
7Immunosuppressive AgentsPhase 210422
8Nucleic Acid Synthesis InhibitorsPhase 23836
9Immunologic FactorsPhase 218483
10Dermatologic AgentsPhase 24555
11CyclosporinsPhase 2873
12Antifungal AgentsPhase 23015
13AntimetabolitesPhase 29454
14Anti-Infective AgentsPhase 217220
15Antimetabolites, AntineoplasticPhase 25770
16Calcineurin InhibitorsPhase 21223
17Antirheumatic AgentsPhase 28496
18Insulin, Globin ZincPhase 1, Phase 24278
19insulinPhase 1, Phase 24278
20MitogensPhase 1, Phase 21386
21tannic acidNutraceuticalPhase 21684

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
3Intracerebral Gene Therapy for Sanfilippo Type A SyndromeCompletedNCT01474343Phase 1, Phase 2
4HSCT for High Risk Inherited Inborn ErrorsCompletedNCT00383448Phase 2
5Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIARecruitingNCT02716246Phase 1, Phase 2
6A Treatment Study of Mucopolysaccharidosis Type IIIBRecruitingNCT02754076Phase 1, Phase 2
7Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA DiseaseActive, not recruitingNCT02060526Phase 2
8Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA)Active, not recruitingNCT01299727Phase 1, Phase 2
9Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene TherapyActive, not recruitingNCT02053064Phase 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

Search NIH Clinical Center for Mucopolysaccharidisis Type Iiia

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 Iiia22 SGSH

Anatomical Context for Mucopolysaccharidisis Type Iiia

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Animal Models for Mucopolysaccharidisis Type Iiia or affiliated genes

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MGI Mouse Phenotypes related to Mucopolysaccharidisis Type Iiia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7M6PR, NAGLU, SGSH
2MP:00053828.4GNPTAB, 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:

67 (show all 56)
id Symbol AA change Variation ID SNP ID
1SGSHp.Tyr40AsnVAR_007388
2SGSHp.Ala44ThrVAR_007389
3SGSHp.Ser66TrpVAR_007390
4SGSHp.Arg74CysVAR_007391
5SGSHp.Arg74HisVAR_007392
6SGSHp.Thr79ProVAR_007393
7SGSHp.Gln85ArgVAR_007395
8SGSHp.Gly90ArgVAR_007396
9SGSHp.Gly122ArgVAR_007397
10SGSHp.Pro128LeuVAR_007398
11SGSHp.Val131MetVAR_007399
12SGSHp.Thr139MetVAR_007400
13SGSHp.Leu146ProVAR_007401
14SGSHp.Arg150GlnVAR_007402
15SGSHp.Asp179AsnVAR_007403
16SGSHp.Arg182CysVAR_007404rs529855742
17SGSHp.Phe193LeuVAR_007405
18SGSHp.Arg206ProVAR_007406
19SGSHp.Pro227ArgVAR_007408
20SGSHp.Ala234GlyVAR_007409rs113641837
21SGSHp.Asp235ValVAR_007410
22SGSHp.Arg245HisVAR_007411rs104894635
23SGSHp.Ser298ProVAR_007412rs138504221
24SGSHp.Thr321AlaVAR_007413
25SGSHp.Ala354ProVAR_007414
26SGSHp.Ser364ArgVAR_007416
27SGSHp.Glu369LysVAR_007417
28SGSHp.Arg377CysVAR_007418
29SGSHp.Arg377HisVAR_007419
30SGSHp.Gln380ArgVAR_007420
31SGSHp.Leu386ArgVAR_007421
32SGSHp.Asn389LysVAR_007422
33SGSHp.Glu447LysVAR_007423
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_054678
43SGSHp.Asp235AsnVAR_054679
44SGSHp.Gly251AlaVAR_054680rs144461610
45SGSHp.Asp273AsnVAR_054681
46SGSHp.Pro288SerVAR_054682
47SGSHp.Pro293SerVAR_054683
48SGSHp.Pro293ThrVAR_054684
49SGSHp.Glu300ValVAR_054685
50SGSHp.Gln307ProVAR_054687
51SGSHp.Ile322SerVAR_054688
52SGSHp.Glu355LysVAR_054689
53SGSHp.Tyr374HisVAR_054690
54SGSHp.Arg433GlnVAR_054695
55SGSHp.Arg433TrpVAR_054696
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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Biological processes related to Mucopolysaccharidisis Type Iiia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan catabolic processGO:00060279.7NAGLU, SGSH
2carbohydrate metabolic processGO:00059759.2NAGLU, SGSH

Sources for Mucopolysaccharidisis Type Iiia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet