PedAM

Pediatric Disease Annotations & Medicines


	mucopolysaccharidosis iii

Disease ID	869
Disease	mucopolysaccharidosis iii
Definition	Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Synonym	mps 3 mps iii mucopolysaccharidosis 3 mucopolysaccharidosis iii [disease/finding] mucopolysaccharidosis iiis mucopolysaccharidosis type iii mucopolysaccharidosis, mps-iii oligophrenia, polydystrophic oligophrenias, polydystrophic polydystrophic oligophrenia polydystrophic oligophrenias san filippo syndrome san filippo's syndrome san filippos syndrome sanfilippo disease sanfilippo syndrome sanfilippo syndrome (disorder) sanfilippo syndrome, nos sanfilippo syndromes sanfilippo's syndrome sanfilippos syndrome syndrome, san filippo's syndrome, sanfilippo syndrome, sanfilippo's syndromes, sanfilippo
DOID	DOID:12801
UMLS	C0026706
MeSH	D009084
SNOMED-CT	SNOMEDCT_US_2016_09_01:88393000
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) NAGLU \| 4669 \| CTD_human HGSNAT \| 138050 \| CTD_human SGSH \| 6448 \| CTD_human GNS \| 2799 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:42) 4074 \| M6PR \| DISEASES 5603 \| MAPK13 \| DISEASES 7593 \| MZF1 \| DISEASES 410 \| ARSA \| DISEASES 858 \| CAV2 \| DISEASES 4669 \| NAGLU \| DISEASES 7942 \| TFEB \| DISEASES 2799 \| GNS \| DISEASES 80210 \| ARMC9 \| DISEASES 4069 \| LYZ \| DISEASES 64131 \| XYLT1 \| DISEASES 950 \| SCARB2 \| DISEASES 4864 \| NPC1 \| DISEASES 285362 \| SUMF1 \| DISEASES 5868 \| RAB5A \| DISEASES 284312 \| ZSCAN1 \| DISEASES 2990 \| GUSB \| DISEASES 51181 \| DCXR \| DISEASES 2720 \| GLB1 \| DISEASES 6448 \| SGSH \| DISEASES 147912 \| SIX5 \| DISEASES 1482 \| NKX2-5 \| DISEASES 3916 \| LAMP1 \| DISEASES 682 \| BSG \| DISEASES 1103 \| CHAT \| DISEASES 2583 \| B4GALNT1 \| DISEASES 10142 \| AKAP9 \| DISEASES 3482 \| IGF2R \| DISEASES 80331 \| DNAJC5 \| DISEASES 8838 \| WISP3 \| DISEASES 10724 \| MGEA5 \| DISEASES 2262 \| GPC5 \| DISEASES 138050 \| HGSNAT \| DISEASES 347527 \| ARSH \| DISEASES 2596 \| GAP43 \| DISEASES 5601 \| MAPK9 \| DISEASES 3481 \| IGF2 \| DISEASES 1719 \| DHFR \| DISEASES 3109 \| HLA-DMB \| DISEASES 2801 \| GOLGA2 \| DISEASES 3684 \| ITGAM \| DISEASES 10577 \| NPC2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	869
Disease	mucopolysaccharidosis iii
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	869
Disease	mucopolysaccharidosis iii
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C1963091 \| diarrhea
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894592	11068184	4669	NAGLU	umls:C0026706	BeFree	This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome.	0.122995792	2000	NAGLU	17	42541074	C	T
rs104894599	11068184	4669	NAGLU	umls:C0026706	BeFree	This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome.	0.122995792	2000	NAGLU	17	42536416	C	A
rs118204024	11068184	4669	NAGLU	umls:C0026706	BeFree	This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome.	0.122995792	2000	NAGLU	17	42536414	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:2)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0026706	lamotrigine	C047781	84057-84-1	mucopolysaccharidosis iii	MESH:D009084	therapeutic	19681008
C0026706	olanzapine	C076029	132539-06-1	mucopolysaccharidosis iii	MESH:D009084	therapeutic	19681008

FDA approved drug and dosage information(Total Drugs:10)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D009084	lamictal	lamotrigine	100MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D009084	lamictal	lamotrigine	100MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D009084	lamictal	lamotrigine	100MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D009084	lamictal xr	lamotrigine	25MG	TABLET, EXTENDED RELEASE;ORAL	Prescription	AB	Yes	No
MESH:D009084	lamictal xr	lamotrigine	25MG	TABLET, EXTENDED RELEASE;ORAL	Prescription	AB	Yes	No
MESH:D009084	lamictal xr	lamotrigine	25MG	TABLET, EXTENDED RELEASE;ORAL	Prescription	AB	Yes	No
MESH:D009084	zyprexa	olanzapine	2.5MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D009084	zyprexa	olanzapine	10MG/VIAL	INJECTABLE;INTRAMUSCULAR	Prescription	AP	Yes	Yes
MESH:D009084	zyprexa	olanzapine	2.5MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D009084	zyprexa	olanzapine	10MG/VIAL	INJECTABLE;INTRAMUSCULAR	Prescription	AP	Yes	Yes

FDA labeling changes(Total Drugs:10)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D009084	01/17/2003	lamictal	lamotrigine	Adjunctive therapy for partial seizures	Extended indication from adults to pediatric patients e 2 years Patients aged 2 - 18 years had clearance influenced predominantly by total body weight and concurrent antiepileptic drug (AED) therapy. The oral clearance was higher, on a body weight basis, in pediatric patients than in adults Because of increased clearance in pediatrics, maintenance doses in patients weighing < 30 kg may need an increase of as much as 50% based upon clinical response Evidence shows that the inclusion of VPA in a multi-drug regimen increases the risk of serious, potentially life-threatening rash in pediatric patients Approximately 11.5% of the 1,081 pediatric patients who received the drug as adjunctive therapy in clinical trials discontinued treatment because of an AE	Labeling	B	-	-	-	GlaxoSmithKline	02/14/2007	FALSE'
MESH:D009084	8/5/2009	lamictal	lamotrigine	Adjunctive treatment for partial seizures in pediatric patients 1 24 months	Safety and effectiveness as adjunctive treatment for partial seizures were not demonstrated in a small randomized, double-blind, placebo-controlled, withdrawal study in pediatric patients 1 - 24 months Immediate release tablets were associated with an increased risk for infectious adverse reactions including bronchiolitis, bronchitis, ear infection, eye infection, otitis externa, pharyngitis, urinary tract infection, and viral infection (Lamictal 37%, Placebo 5%), and respiratory adverse reactions including nasal congestion, cough, and apnea. (Lamictal 26%, Placebo 5%)	Labeling	B	-	-	-	GlaxoSmithKline	02/14/2007	FALSE'
MESH:D009084	05/18/2015	lamictal	lamotrigine	Maintenance treatment of bipolar disorder	Safety and efficacy for the maintenance treatment of bipolar disorder were not established in a double-blind, placebo-controlled trial that evaluated 301 pediatric patients aged 10 to 17 Information on clinical trial and adverse reactions Postmarketing study	Labeling	-	P	-	-	GlaxoSmithKline	-	FALSE
MESH:D009084	05/29/2009	lamictal xr	lamotrigine	Adjunctive therapy for partial onset seizures in patients e13 years of age	Extended release tablets are indicated as adjunctive therapy for partial onset seizures with or without secondary generalization in patients e13 years Safety and effectiveness of extended release tablets for any use in patients below the age of 13 have not been established Information on adverse event profile, and clinical studies New dosage form	Labeling	-	P	-	-	GlaxoSmithKline	-	FALSE'
MESH:D009084	01/29/2010	lamictal xr	lamotrigine	Adjunctive therapy for Primary Generalized Tonic-Clonic seizures	New indication for adjunctive therapy for primary generalized tonic-clonic seizures in patients e 13 years of age Safety and effectiveness for any use in patients < 13 years have not been established Information on dosing, adverse reactions, and clinical studies	Labeling	-	P	-	-	GlaxoSmithKline	-	FALSE'
MESH:D009084	04/25/2011	lamictal xr	lamotrigine	Monotherapy in patients 13 years of age and older with partial seizures who are receiving therapy with a single antiepileptic drug (AED)	Approved for conversion to monotherapy in patients e13 years of age with partial seizures receiving treatment with a single antiepileptic drug (AED).Safety and effectiveness have not been established (1) as initial monotherapy or (2) for simultaneous conversion to monotherapy from two or more concomitant AEDsInformation on conversion to monotherapy, adverse reactions, clinical trialNew indication	Labeling	-	P	-	-	GlaxoSmithKline	-	FALSE'
MESH:D009084	08/14/2008	zyprexa	olanzapine	schizophrenia; bipolar disorder	Safety and effectiveness have not been established for patients less than 18 years of age In an analysis of placebo-controlled olanzapine monotherapy studies of adolescent patients, including those with schizophrenia or bipolar disorder, olanzapine was associated with: oHyperglycemia - a statistically significantly greater mean change in fasting glucose levels compared to placebo oHyperlipidemia statistically significant increases compared to placebo in fasting triglycerides, fasting total cholesterol and fasting LDL cholesterol oWeight gain olanzapine treated patients gained an average of 4.6 kg, compared to an average of 0.3 kg in placebo-treated patients with a median exposure of 3 weeks; Average weight gain during long-term therapy was 7.4 kg	-	B	-	-	-	Lilly	10/1/2007	FALSE'
MESH:D009084	08/14/2008	zyprexa	olanzapine	schizophrenia; bipolar disorder	Safety and effectiveness have not been established for patients less than 18 years of age In an analysis of placebo-controlled olanzapine monotherapy studies of adolescent patients, including those with schizophrenia or bipolar disorder, olanzapine was associated with: oHyperglycemia - a statistically significantly greater mean change in fasting glucose levels compared to placebo oHyperlipidemia statistically significant increases compared to placebo in fasting triglycerides, fasting total cholesterol and fasting LDL cholesterol oWeight gain olanzapine treated patients gained an average of 4.6 kg, compared to an average of 0.3 kg in placebo-treated patients with a median exposure of 3 weeks; Average weight gain during long-term therapy was 7.4 kg	-	B	-	-	-	Lilly	10/1/2007	FALSE'
MESH:D009084	4/12/2009	zyprexa	olanzapine	Treatment of manic or mixed episodes of bipolar I disorder and schizophrenia in adolescents ages 13-17	Extended schizophrenia and manic or mixed episodes of bipolar I disorder indications from adults to adolescents 1317 years of age Safety and effectiveness in children < 13 years of age have not been established Recommended starting dose for adolescents is lower than that for adults Compared to patients from adult clinical trials, adolescents were likely to gain more weight, experience increased sedation, and have greater increases in total cholesterol, triglycerides, LDL cholesterol, prolactin and hepatic transaminase levels Information on dosing, adverse reactions, pharmacokinetics, clinical studies	Labeling	B	-	-	-	Lilly	10/1/2007	TRUE'
MESH:D009084	4/12/2009	zyprexa	olanzapine	Treatment of manic or mixed episodes of bipolar I disorder and schizophrenia in adolescents ages 13-17	Extended schizophrenia and manic or mixed episodes of bipolar I disorder indications from adults to adolescents 1317 years of age Safety and effectiveness in children < 13 years of age have not been established Recommended starting dose for adolescents is lower than that for adults Compared to patients from adult clinical trials, adolescents were likely to gain more weight, experience increased sedation, and have greater increases in total cholesterol, triglycerides, LDL cholesterol, prolactin and hepatic transaminase levels Information on dosing, adverse reactions, pharmacokinetics, clinical studies	Labeling	B	-	-	-	Lilly	10/1/2007	TRUE'

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