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	mucopolysaccharidoses

Disease ID	254
Disease	mucopolysaccharidoses
Definition	Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Synonym	mps - mucopolysaccharidosis mucopolysaccharidoses [disease/finding] mucopolysaccharidosis mucopolysaccharidosis (disorder) mucopolysaccharidosis [ambiguous] mucopolysaccharidosis nos mucopolysaccharidosis nos (disorder) mucopolysaccharidosis, nos
Orphanet	ORPHANET:79213
DOID	DOID:12798
UMLS	C0026703
MeSH	D009083
SNOMED-CT	SNOMEDCT_US_2016_09_01:11380006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:26) C0007286 \| carpal tunnel syndrome \| 4 C0520679 \| obstructive sleep apnea \| 2 C0025362 \| mental retardation \| 2 C0037315 \| sleep apnea \| 2 C0022821 \| kyphosis \| 2 C0026265 \| mitral valve disease \| 1 C0037315 \| sleep disordered breathing \| 1 C0026709 \| maroteaux-lamy syndrome \| 1 C0042373 \| vascular disorder \| 1 C0027765 \| neurological disease \| 1 C0018799 \| cardiac disease \| 1 C0019294 \| inguinal hernia \| 1 C0553662 \| juvenile idiopathic arthritis \| 1 C0024115 \| pulmonary disease \| 1 C0029882 \| otitis media \| 1 C0037944 \| spinal stenosis \| 1 C0022658 \| nephropathy \| 1 C0020255 \| hydrocephalus \| 1 C0037928 \| myelopathy \| 1 C0007222 \| cardiovascular disorders \| 1 C0017665 \| membranous nephropathy \| 1 C0852283 \| neonatal respiratory distress \| 1 C0035078 \| renal failure \| 1 C0003507 \| aortic stenosis \| 1 C0010068 \| coronary artery disease \| 1 C0042373 \| vascular disorders \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 3425 \| IDUA \| UniProtKB-KW;GHR 2588 \| GALNS \| UniProtKB-KW 2990 \| GUSB \| UniProtKB-KW;GHR 4669 \| NAGLU \| UniProtKB-KW 3373 \| HYAL1 \| UniProtKB-KW 6448 \| SGSH \| UniProtKB-KW 2799 \| GNS \| UniProtKB-KW 138050 \| HGSNAT \| UniProtKB-KW 2720 \| GLB1 \| UniProtKB-KW 285362 \| SUMF1 \| UniProtKB-KW 411 \| ARSB \| UniProtKB-KW;GHR 3423 \| IDS \| UniProtKB-KW;GHR 65082 \| VPS33A \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:78) 81792 \| ADAMTS12 \| 1.65 \| DISEASES 2334 \| AFF2 \| 3.089 \| DISEASES 60509 \| AGBL5 \| 2.51 \| DISEASES 10142 \| AKAP9 \| 1.234 \| DISEASES 353 \| APRT \| 2.45 \| DISEASES 22901 \| ARSG \| 4.28 \| DISEASES 347527 \| ARSH \| 5.912 \| DISEASES 51676 \| ASB2 \| 2.193 \| DISEASES 2583 \| B4GALNT1 \| 2.401 \| DISEASES 682 \| BSG \| 2.772 \| DISEASES 720 \| C4A \| 1.541 \| DISEASES 55835 \| CENPJ \| 1.354 \| DISEASES 55636 \| CHD7 \| 1.319 \| DISEASES 7122 \| CLDN5 \| 1.158 \| DISEASES 1297 \| COL9A1 \| 1.333 \| DISEASES 1400 \| CRMP1 \| 1.364 \| DISEASES 10491 \| CRTAP \| 2.357 \| DISEASES 5476 \| CTSA \| 3.864 \| DISEASES 1508 \| CTSB \| 1.253 \| DISEASES 1520 \| CTSS \| 2.505 \| DISEASES 1719 \| DHFR \| 1.159 \| DISEASES 1735 \| DIO3 \| 1.275 \| DISEASES 80331 \| DNAJC5 \| 1.234 \| DISEASES 22845 \| DOLK \| 1.864 \| DISEASES 8891 \| EIF2B3 \| 2.226 \| DISEASES 2098 \| ESD \| 1.287 \| DISEASES 55763 \| EXOC1 \| 3.031 \| DISEASES 2200 \| FBN1 \| 1.451 \| DISEASES 2332 \| FMR1 \| 2.617 \| DISEASES 2556 \| GABRA3 \| 2.667 \| DISEASES 2760 \| GM2A \| 1.45 \| DISEASES 2801 \| GOLGA2 \| 3 \| DISEASES 2262 \| GPC5 \| 1.285 \| DISEASES 3052 \| HCCS \| 1.884 \| DISEASES 138050 \| HGSNAT \| 6.314 \| DISEASES 3106 \| HLA-B \| 1.236 \| DISEASES 3109 \| HLA-DMB \| 4.039 \| DISEASES 8692 \| HYAL2 \| 3.095 \| DISEASES 8372 \| HYAL3 \| 3.275 \| DISEASES 3423 \| IDS \| 6.377 \| DISEASES 10437 \| IFI30 \| 1.429 \| DISEASES 3482 \| IGF2R \| 2.363 \| DISEASES 23210 \| JMJD6 \| 1.614 \| DISEASES 3916 \| LAMP1 \| 2.738 \| DISEASES 3920 \| LAMP2 \| 2.291 \| DISEASES 54900 \| LAX1 \| 1.296 \| DISEASES 51557 \| LGSN \| 2.619 \| DISEASES 3980 \| LIG3 \| 1.837 \| DISEASES 10724 \| MGEA5 \| 1.8 \| DISEASES 4519 \| MT-CYB \| 1.089 \| DISEASES 4758 \| NEU1 \| 1.451 \| DISEASES 58484 \| NLRC4 \| 1.478 \| DISEASES 10577 \| NPC2 \| 1.535 \| DISEASES 4988 \| OPRM1 \| 2.233 \| DISEASES 5828 \| PEX2 \| 1.475 \| DISEASES 5261 \| PHKG2 \| 1.874 \| DISEASES 5549 \| PRELP \| 1.542 \| DISEASES 5745 \| PTH1R \| 1.341 \| DISEASES 53635 \| PTOV1 \| 1.415 \| DISEASES 222659 \| PXT1 \| 1.507 \| DISEASES 10981 \| RAB32 \| 2.138 \| DISEASES 6263 \| RYR3 \| 1.376 \| DISEASES 9169 \| SCAF11 \| 3.047 \| DISEASES 6342 \| SCP2 \| 1.259 \| DISEASES 57556 \| SEMA6A \| 3.311 \| DISEASES 26503 \| SLC17A5 \| 1.988 \| DISEASES 10864 \| SLC22A7 \| 1.225 \| DISEASES 293 \| SLC25A6 \| 1.336 \| DISEASES 6609 \| SMPD1 \| 1.666 \| DISEASES 6622 \| SNCA \| 2.09 \| DISEASES 6677 \| SPAM1 \| 3.583 \| DISEASES 64426 \| SUDS3 \| 1.783 \| DISEASES 8887 \| TAX1BP1 \| 1.758 \| DISEASES 6996 \| TDG \| 1.098 \| DISEASES 7037 \| TFRC \| 1.509 \| DISEASES 7099 \| TLR4 \| 1.112 \| DISEASES 10383 \| TUBB4B \| 1.91 \| DISEASES 8838 \| WISP3 \| 1.061 \| DISEASES
Locus	(Waiting for update.)

Disease ID	254
Disease	mucopolysaccharidoses
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:36) HP:0010535 \| Sleep apnea \| 2 HP:0002808 \| Gibbus deformity \| 2 HP:0002176 \| Spinal cord compression \| 2 HP:0005619 \| Thoracolumbar kyphosis \| 2 HP:0008454 \| Rounded lower back \| 2 HP:0002104 \| Absence of spontaneous respiration \| 2 HP:0001385 \| Congenital hip dysplasia \| 2 HP:0007957 \| Corneal clouding \| 2 HP:0002870 \| Obstructive sleep apnea \| 2 HP:0001249 \| Mental retardation \| 2 HP:0100814 \| Mongolian spot \| 1 HP:0005681 \| Juvenile idiopathic arthritis \| 1 HP:0000389 \| Chronic otitis media \| 1 HP:0012447 \| Abnormal myelination \| 1 HP:0001724 \| Aortic dilatation \| 1 HP:0000388 \| Otitis media \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0012393 \| Allergy \| 1 HP:0000729 \| Pervasive developmental disorder \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0002643 \| Respiratory distress, neonatal \| 1 HP:0012578 \| Membranous glomerulonephritis \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0010807 \| Open bite between upper and lower teeth \| 1 HP:0000112 \| Nephropathy \| 1 HP:0000023 \| Inguinal hernia \| 1 HP:0003416 \| Spinal canal stenosis \| 1 HP:0002196 \| Myelopathy \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0006827 \| Degeneration of the spinal cord \| 1 HP:0100556 \| Hemiatrophy of the body \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0001510 \| Growth deficiency \| 1

Disease ID	254
Disease	mucopolysaccharidoses
Manually Symptom	UMLS \| Name(Total Manually Symptoms:10) C0746982 \| obstructive disease C0520679 \| obstructive sleep apnoea syndrome C0340425 \| hypertrophic cardiomyopathy C0149645 \| cervical myelopathy C0037315 \| sleep apnea C0025362 \| mental retardation C0020305 \| fetal hydrops C0009918 \| joint contracture C0007286 \| carpal tunnel syndrome C0005940 \| bone disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0007286 \| carpal tunnel syndrome \| 4 C0022821 \| kyphosis \| 2 C1384666 \| hearing loss \| 1 C0025362 \| mental retardation \| 1 C0020255 \| hydrocephalus \| 1 C0037315 \| sleep apnea \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
FGFR3	c.C1620G, p.N540K	doi:10.1038/gim.2015.129	Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118204437	8829629	2588	GALNS	umls:C0026703	BeFree	Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.	0.02067924	1996	GALNS	16	88824853	G	A
rs118204443	9385378	2588	GALNS	umls:C0026703	BeFree	A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.	0.02067924	1997	GALNS	16	88832099	C	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	254
Disease	mucopolysaccharidoses
Case	(Waiting for update.)

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