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	mucopolysaccharidosis is

Disease ID	1447
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
Orphanet	ORPHANET:579
DOID	DOID:12802
UMLS	C0023786
MeSH	D008059
SNOMED-CT	SNOMEDCT_US_2016_09_01:75610003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:98) C0011847 \| diabetes \| 8 C0006142 \| breast cancer \| 4 C0410528 \| skeletal dysplasia \| 3 C0242350 \| erectile dysfunction \| 3 C0011854 \| type 1 diabetes \| 3 C0027765 \| neurological disease \| 3 C0010068 \| coronary artery disease \| 3 C0020538 \| hypertension \| 3 C0022661 \| chronic kidney disease \| 2 C0242379 \| lung cancer \| 2 C0022658 \| kidney disease \| 2 C0011860 \| type 2 diabetes \| 2 C0006111 \| brain disease \| 2 C0023890 \| cirrhosis \| 2 C0037944 \| spinal stenosis \| 2 C0042373 \| vascular disease \| 2 C0086543 \| cataract \| 2 C0011570 \| depression \| 2 C0085078 \| lysosomal storage disease \| 1 C0003864 \| arthritis \| 1 C0520679 \| obstructive sleep apnea \| 1 C0014121 \| infective endocarditis \| 1 C0025281 \| meniere's disease \| 1 C0022660 \| acute renal failure \| 1 C0011849 \| diabetes mellitus \| 1 C0020598 \| hypoglycemia \| 1 C0011859 \| lipoatrophic diabetes \| 1 C0007682 \| cns disorder \| 1 C0005940 \| bone disease \| 1 C0042075 \| urological disorders \| 1 C0751908 \| vestibular neuritis \| 1 C0006272 \| bronchiolitis obliterans \| 1 C0023890 \| hepatic cirrhosis \| 1 C0003507 \| aortic stenosis \| 1 C0085096 \| peripheral vascular disease \| 1 C0376545 \| hematological malignancies \| 1 C0018801 \| heart failure \| 1 C0018418 \| gynecomastia \| 1 C0025362 \| mental retardation \| 1 C0027813 \| neuritis \| 1 C0033860 \| psoriasis \| 1 C0043459 \| zellweger syndrome \| 1 C0024530 \| malaria \| 1 C0042075 \| urological diseases \| 1 C0035078 \| renal failure \| 1 C0023890 \| liver cirrhosis \| 1 C0021053 \| immune disease \| 1 C0014118 \| endocarditis \| 1 C0024143 \| lupus nephritis \| 1 C0022821 \| kyphosis \| 1 C0155550 \| neural deafness \| 1 C0022116 \| ischemia \| 1 C0029408 \| osteoarthritis \| 1 C0037315 \| sleep disordered breathing \| 1 C0030567 \| idiopathic parkinson disease \| 1 C0007131 \| non-small cell lung cancer \| 1 C0035304 \| retinal degeneration \| 1 C0017601 \| glaucoma \| 1 C0007789 \| cerebral palsy \| 1 C0009241 \| cognitive disorders \| 1 C0553662 \| juvenile idiopathic arthritis \| 1 C0007682 \| cns disease \| 1 C0948265 \| metabolic syndrome \| 1 C0034012 \| delayed puberty \| 1 C0027765 \| neurological disorder \| 1 C0030567 \| parkinson disease \| 1 C0011860 \| type ii diabetes \| 1 C0035222 \| acute respiratory distress syndrome \| 1 C0007222 \| cardiovascular disease \| 1 C0852283 \| neonatal respiratory distress \| 1 C1261473 \| sarcoma \| 1 C0006271 \| bronchiolitis \| 1 C0027697 \| nephritis \| 1 C0023895 \| liver disease \| 1 C0027765 \| neurological disorders \| 1 C0021359 \| infertile \| 1 C0018799 \| cardiac disease \| 1 C0007682 \| cns diseases \| 1 C0031117 \| peripheral neuropathy \| 1 C0011860 \| diabetes mellitus type 2 \| 1 C0032285 \| pneumoniae \| 1 C0029882 \| otitis media \| 1 C0028754 \| obesity \| 1 C0007286 \| carpal tunnel syndrome \| 1 C0009402 \| colorectal cancer \| 1 C0029463 \| osteosarcoma \| 1 C0007113 \| rectal cancer \| 1 C0020490 \| hyperopia \| 1 C0086543 \| cataracts \| 1 C1704437 \| respiratory distress syndrome \| 1 C0018784 \| sensorineural deafness \| 1 C0036341 \| schizophrenia \| 1 C0149925 \| small cell lung cancer \| 1 C0037315 \| sleep apnea \| 1 C0018799 \| heart disease \| 1 C0264716 \| chronic heart failure \| 1 C0019294 \| inguinal hernia \| 1 C1145670 \| respiratory failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3425 \| IDUA \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3425 \| IDUA \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 58 \| ACTA1 \| 1.273 \| DISEASES 81792 \| ADAMTS12 \| 2.672 \| DISEASES 54829 \| ASPN \| 1.792 \| DISEASES 2583 \| B4GALNT1 \| 2.465 \| DISEASES 633 \| BGN \| 1.25 \| DISEASES 1043 \| CD52 \| 1.036 \| DISEASES 55636 \| CHD7 \| 1.427 \| DISEASES 7122 \| CLDN5 \| 1.223 \| DISEASES 1280 \| COL2A1 \| 1.019 \| DISEASES 1297 \| COL9A1 \| 2.355 \| DISEASES 5476 \| CTSA \| 1.273 \| DISEASES 1520 \| CTSS \| 1.825 \| DISEASES 6387 \| CXCL12 \| 1.132 \| DISEASES 1759 \| DNM1 \| 1.807 \| DISEASES 2098 \| ESD \| 2.219 \| DISEASES 2331 \| FMOD \| 1.872 \| DISEASES 2592 \| GALT \| 1.937 \| DISEASES 3106 \| HLA-B \| 1.713 \| DISEASES 3423 \| IDS \| 3.545 \| DISEASES 3563 \| IL3RA \| 1.099 \| DISEASES 58484 \| NLRC4 \| 1.587 \| DISEASES 4958 \| OMD \| 1.918 \| DISEASES 5261 \| PHKG2 \| 2.895 \| DISEASES 5549 \| PRELP \| 2.564 \| DISEASES 5688 \| PSMA7 \| 1.559 \| DISEASES 10981 \| RAB32 \| 3.16 \| DISEASES 6263 \| RYR3 \| 2.398 \| DISEASES 26503 \| SLC17A5 \| 1.522 \| DISEASES 6609 \| SMPD1 \| 1.111 \| DISEASES 6812 \| STXBP1 \| 1.898 \| DISEASES 64426 \| SUDS3 \| 2.805 \| DISEASES 7037 \| TFRC \| 1.265 \| DISEASES 10383 \| TUBB4B \| 2.932 \| DISEASES 8266 \| UBL4A \| 1.297 \| DISEASES 51366 \| UBR5 \| 1.676 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1447
Disease	mucopolysaccharidosis is
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:101) HP:0002664 \| Neoplasia \| 13 HP:0012531 \| Pain \| 6 HP:0003002 \| Breast carcinoma \| 4 HP:0100543 \| Cognitive deficits \| 4 HP:0003416 \| Spinal canal stenosis \| 3 HP:0000802 \| Erectile dysfunction \| 3 HP:0002652 \| Skeletal dysplasia \| 3 HP:0001677 \| Coronary artery disease \| 3 HP:0002176 \| Spinal cord compression \| 3 HP:0000822 \| Hypertension \| 3 HP:0002018 \| Nausea \| 3 HP:0001268 \| Mental deterioration \| 3 HP:0001394 \| Hepatic cirrhosis \| 2 HP:0002098 \| Respiratory distress \| 2 HP:0004610 \| Narrow lumbar spinal canal \| 2 HP:0001249 \| Mental retardation \| 2 HP:0000716 \| Depression \| 2 HP:0000365 \| Hearing impairment \| 2 HP:0007957 \| Corneal clouding \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0100806 \| Sepsis \| 2 HP:0000518 \| Cataract \| 2 HP:0012622 \| Chronic kidney disease \| 2 HP:0012532 \| Chronic pain \| 1 HP:0011947 \| Respiratory infection \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0002573 \| Bloody diarrhea \| 1 HP:0002669 \| Osteosarcoma \| 1 HP:0012534 \| Dysesthesia \| 1 HP:0010819 \| drop attacks \| 1 HP:0000164 \| Abnormality of the teeth \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0002373 \| Febrile convulsions \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0005619 \| Thoracolumbar kyphosis \| 1 HP:0008454 \| Rounded lower back \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0030358 \| Non-small cell lung carcinoma \| 1 HP:0030357 \| Small cell lung carcinoma \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0005681 \| Juvenile idiopathic arthritis \| 1 HP:0002643 \| Respiratory distress, neonatal \| 1 HP:0100753 \| Schizophrenia \| 1 HP:0002857 \| Genu valgum \| 1 HP:0000729 \| Pervasive developmental disorder \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0002205 \| Frequent respiratory infections \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0004872 \| Recurrent abdominal hernia \| 1 HP:0100022 \| Movement disorder \| 1 HP:0100699 \| Scarring \| 1 HP:0100242 \| Sarcoma \| 1 HP:0003401 \| Paresthesia \| 1 HP:0100820 \| Glomerulopathy \| 1 HP:0003162 \| Low blood sugar when fasting \| 1 HP:0100582 \| Nasal polyps \| 1 HP:0001724 \| Aortic dilatation \| 1 HP:0000771 \| Gynaecomastia \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0006887 \| Progressive mental retardation \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0000501 \| Glaucoma \| 1 HP:0011950 \| Bronchiolitis \| 1 HP:0100607 \| Painful menstruation \| 1 HP:0002781 \| Upper airway obstruction \| 1 HP:0012393 \| Allergy \| 1 HP:0002067 \| Bradykinesia \| 1 HP:0002025 \| Narrowing of anal opening \| 1 HP:0000388 \| Otitis media \| 1 HP:0001385 \| Congenital hip dysplasia \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0000123 \| Nephritis \| 1 HP:0001369 \| Arthritis \| 1 HP:0000389 \| Chronic otitis media \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0000023 \| Inguinal hernia \| 1 HP:0002527 \| Falls \| 1 HP:0010874 \| Tendon xanthomatosis \| 1 HP:0000546 \| Retinal degeneration \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0000823 \| Pubertal delay \| 1 HP:0003765 \| Psoriasis \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0001513 \| Obesity \| 1 HP:0000750 \| Late-onset speech development \| 1 HP:0000316 \| Increased distance between eye sockets \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0002344 \| Progressive neurologic deterioration \| 1 HP:0100796 \| Orchitis \| 1 HP:0002758 \| Osteoarthritis \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0000540 \| Hypermetropia \| 1 HP:0100556 \| Hemiatrophy of the body \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0001941 \| acidemia \| 1 HP:0002808 \| Gibbus deformity \| 1 HP:0006827 \| Degeneration of the spinal cord \| 1 HP:0011946 \| Constrictive bronchiolitis \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0012447 \| Abnormal myelination \| 1

Disease ID	1447
Disease	mucopolysaccharidosis is
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
IDUA	NM_000203.3: c.99T>G, p.(His33Gln)	doi:10.1038/gim.2016.153	A comprehensive strategy for exome-based preconception carrier screening

Text Mining Genotype(Total 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.)

Disease ID	1447
Disease	mucopolysaccharidosis is
Case	(Waiting for update.)

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