PedAM

Pediatric Disease Annotations & Medicines


	mucopolysaccharidosis is

Disease ID	1341
Disease	mucopolysaccharidosis is
Definition	Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
Synonym	alpha-l-iduronidase deficiency i mucopolysaccharidosis iduronidase deficiency disease l-iduronidase deficiency lipochondrodystrophies lipochondrodystrophy mps 1 mps i mpsi - mucopolysaccharidosis type i mucopolysaccharidosis 1 mucopolysaccharidosis i mucopolysaccharidosis i [disease/finding] mucopolysaccharidosis type i mucopolysaccharidosis type i (disorder) mucopolysaccharidosis type i [ambiguous] mucopolysaccharidosis, mps-i mucopolysaccharidosis, mps-i (disorder) mucopolysaccharidosis, type 1
DOID	DOID:12802
UMLS	C0023786
MeSH	D008059
SNOMED-CT	SNOMEDCT_US_2016_09_01:75610003
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) IDUA \| 3425 \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3425 \| IDUA \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:78) 4074 \| M6PR \| DISEASES 8974 \| P4HA2 \| DISEASES 3053 \| SERPIND1 \| DISEASES 410 \| ARSA \| DISEASES 2717 \| GLA \| DISEASES 4669 \| NAGLU \| DISEASES 4126 \| MANBA \| DISEASES 4057 \| LTF \| DISEASES 3196 \| TLX2 \| DISEASES 3991 \| LIPE \| DISEASES 3425 \| IDUA \| DISEASES 2006 \| ELN \| DISEASES 81 \| ACTN4 \| DISEASES 5176 \| SERPINF1 \| DISEASES 2799 \| GNS \| DISEASES 80326 \| WNT10A \| DISEASES 23314 \| SATB2 \| DISEASES 2581 \| GALC \| DISEASES 4969 \| OGN \| DISEASES 11043 \| MID2 \| DISEASES 3931 \| LCAT \| DISEASES 57192 \| MCOLN1 \| DISEASES 54888 \| NSUN2 \| DISEASES 950 \| SCARB2 \| DISEASES 411 \| ARSB \| DISEASES 1462 \| VCAN \| DISEASES 1390 \| CREM \| DISEASES 54806 \| AHI1 \| DISEASES 3073 \| HEXA \| DISEASES 2588 \| GALNS \| DISEASES 526 \| ATP6V1B2 \| DISEASES 3087 \| HHEX \| DISEASES 404037 \| HAPLN4 \| DISEASES 79158 \| GNPTAB \| DISEASES 2990 \| GUSB \| DISEASES 51181 \| DCXR \| DISEASES 1493 \| CTLA4 \| DISEASES 2548 \| GAA \| DISEASES 3575 \| IL7R \| DISEASES 2720 \| GLB1 \| DISEASES 947 \| CD34 \| DISEASES 2629 \| GBA \| DISEASES 6448 \| SGSH \| DISEASES 633 \| BGN \| DISEASES 3563 \| IL3RA \| DISEASES 3423 \| IDS \| DISEASES 6609 \| SMPD1 \| DISEASES 10383 \| TUBB4B \| DISEASES 2583 \| B4GALNT1 \| DISEASES 5549 \| PRELP \| DISEASES 2331 \| FMOD \| DISEASES 26503 \| SLC17A5 \| DISEASES 1297 \| COL9A1 \| DISEASES 7037 \| TFRC \| DISEASES 58484 \| NLRC4 \| DISEASES 58 \| ACTA1 \| DISEASES 10981 \| RAB32 \| DISEASES 1520 \| CTSS \| DISEASES 8266 \| UBL4A \| DISEASES 5688 \| PSMA7 \| DISEASES 5476 \| CTSA \| DISEASES 1759 \| DNM1 \| DISEASES 6812 \| STXBP1 \| DISEASES 1043 \| CD52 \| DISEASES 54829 \| ASPN \| DISEASES 4958 \| OMD \| DISEASES 2098 \| ESD \| DISEASES 2592 \| GALT \| DISEASES 1280 \| COL2A1 \| DISEASES 6263 \| RYR3 \| DISEASES 6387 \| CXCL12 \| DISEASES 7122 \| CLDN5 \| DISEASES 55636 \| CHD7 \| DISEASES 3106 \| HLA-B \| DISEASES 81792 \| ADAMTS12 \| DISEASES 51366 \| UBR5 \| DISEASES 64426 \| SUDS3 \| DISEASES 5261 \| PHKG2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1341
Disease	mucopolysaccharidosis is
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1341
Disease	mucopolysaccharidosis is
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121965029	14559116	3425	IDUA	umls:C0023786	BeFree	The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.	0.152798316	2003	IDUA;SLC26A1	4	987916	G	A

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:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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