PedAM

Pediatric Disease Annotations & Medicines


	mucopolysaccharidoses

Disease ID	209
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:27) C0007286 \| carpal tunnel syndrome \| 4 C0025362 \| mental retardation \| 2 C0520679 \| obstructive sleep apnea \| 2 C0022821 \| kyphosis \| 2 C0037315 \| sleep apnea \| 2 C0026707 \| morquio's syndrome \| 1 C0553662 \| juvenile idiopathic arthritis \| 1 C0026265 \| mitral valve disease \| 1 C0037944 \| spinal stenosis \| 1 C0022658 \| nephropathy \| 1 C0029882 \| otitis media \| 1 C0026709 \| maroteaux-lamy syndrome \| 1 C0042373 \| vascular disorder \| 1 C0007222 \| cardiovascular disorders \| 1 C0037315 \| sleep disordered breathing \| 1 C0018799 \| cardiac disease \| 1 C0010068 \| coronary artery disease \| 1 C0019294 \| inguinal hernia \| 1 C0037928 \| myelopathy \| 1 C0852283 \| neonatal respiratory distress \| 1 C0017665 \| membranous nephropathy \| 1 C0035078 \| renal failure \| 1 C0042373 \| vascular disorders \| 1 C0003507 \| aortic stenosis \| 1 C0027765 \| neurological disease \| 1 C0024115 \| pulmonary disease \| 1 C0020255 \| hydrocephalus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) SUMF1 \| 285362 \| UniProtKB-KW GUSB \| 2990 \| UniProtKB-KW;GHR ARSB \| 411 \| UniProtKB-KW;GHR NAGLU \| 4669 \| UniProtKB-KW GALNS \| 2588 \| UniProtKB-KW HGSNAT \| 138050 \| UniProtKB-KW GLB1 \| 2720 \| UniProtKB-KW SGSH \| 6448 \| UniProtKB-KW IDUA \| 3425 \| UniProtKB-KW;GHR HYAL1 \| 3373 \| UniProtKB-KW GNS \| 2799 \| UniProtKB-KW VPS33A \| 65082 \| UniProtKB-KW IDS \| 3423 \| UniProtKB-KW;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:159) 4074 \| M6PR \| DISEASES 5009 \| OTC \| DISEASES 7544 \| ZFY \| DISEASES 55808 \| ST6GALNAC1 \| DISEASES 8974 \| P4HA2 \| DISEASES 28962 \| OSTM1 \| DISEASES 7593 \| MZF1 \| DISEASES 3053 \| SERPIND1 \| DISEASES 410 \| ARSA \| DISEASES 2158 \| F9 \| DISEASES 2717 \| GLA \| DISEASES 869 \| CBLN1 \| DISEASES 79152 \| FA2H \| DISEASES 55192 \| DNAJC17 \| DISEASES 2217 \| FCGRT \| DISEASES 4967 \| OGDH \| DISEASES 858 \| CAV2 \| DISEASES 23553 \| HYAL4 \| DISEASES 6348 \| CCL3 \| DISEASES 1440 \| CSF3 \| DISEASES 4669 \| NAGLU \| DISEASES 4126 \| MANBA \| DISEASES 3196 \| TLX2 \| DISEASES 1846 \| DUSP4 \| DISEASES 7130 \| TNFAIP6 \| DISEASES 3425 \| IDUA \| DISEASES 8930 \| MBD4 \| DISEASES 968 \| CD68 \| DISEASES 2006 \| ELN \| DISEASES 53 \| ACP2 \| DISEASES 10993 \| SDS \| DISEASES 8739 \| HRK \| DISEASES 90070 \| LACRT \| DISEASES 2799 \| GNS \| DISEASES 80210 \| ARMC9 \| DISEASES 2581 \| GALC \| DISEASES 1800 \| DPEP1 \| DISEASES 3340 \| NDST1 \| DISEASES 4591 \| TRIM37 \| DISEASES 57192 \| MCOLN1 \| DISEASES 84083 \| ZRANB3 \| DISEASES 54888 \| NSUN2 \| DISEASES 950 \| SCARB2 \| DISEASES 411 \| ARSB \| DISEASES 1462 \| VCAN \| DISEASES 38 \| ACAT1 \| DISEASES 55749 \| CCAR1 \| DISEASES 3373 \| HYAL1 \| DISEASES 56938 \| ARNTL2 \| DISEASES 65082 \| VPS33A \| DISEASES 3073 \| HEXA \| DISEASES 5373 \| PMM2 \| DISEASES 2588 \| GALNS \| DISEASES 4864 \| NPC1 \| DISEASES 54808 \| DYM \| DISEASES 285362 \| SUMF1 \| DISEASES 526 \| ATP6V1B2 \| DISEASES 6768 \| ST14 \| DISEASES 284312 \| ZSCAN1 \| DISEASES 3087 \| HHEX \| DISEASES 10225 \| CD96 \| DISEASES 404037 \| HAPLN4 \| DISEASES 10825 \| NEU3 \| DISEASES 213 \| ALB \| DISEASES 79158 \| GNPTAB \| DISEASES 1014 \| CDH16 \| DISEASES 11318 \| GPR182 \| DISEASES 9780 \| PIEZO1 \| DISEASES 84168 \| ANTXR1 \| DISEASES 2990 \| GUSB \| DISEASES 51181 \| DCXR \| DISEASES 5190 \| PEX6 \| DISEASES 7543 \| ZFX \| DISEASES 5093 \| PCBP1 \| DISEASES 2548 \| GAA \| DISEASES 83452 \| RAB33B \| DISEASES 2720 \| GLB1 \| DISEASES 947 \| CD34 \| DISEASES 4245 \| MGAT1 \| DISEASES 2629 \| GBA \| DISEASES 6448 \| SGSH \| DISEASES 1400 \| CRMP1 \| DISEASES 5745 \| PTH1R \| DISEASES 10491 \| CRTAP \| DISEASES 2200 \| FBN1 \| DISEASES 55763 \| EXOC1 \| DISEASES 3052 \| HCCS \| DISEASES 3916 \| LAMP1 \| DISEASES 682 \| BSG \| DISEASES 8372 \| HYAL3 \| DISEASES 6622 \| SNCA \| DISEASES 3423 \| IDS \| DISEASES 6609 \| SMPD1 \| DISEASES 10383 \| TUBB4B \| DISEASES 2583 \| B4GALNT1 \| DISEASES 1508 \| CTSB \| DISEASES 5549 \| PRELP \| DISEASES 57556 \| SEMA6A \| DISEASES 6677 \| SPAM1 \| DISEASES 26503 \| SLC17A5 \| DISEASES 10142 \| AKAP9 \| DISEASES 3482 \| IGF2R \| DISEASES 5828 \| PEX2 \| DISEASES 2760 \| GM2A \| DISEASES 1297 \| COL9A1 \| DISEASES 8692 \| HYAL2 \| DISEASES 1735 \| DIO3 \| DISEASES 7037 \| TFRC \| DISEASES 60509 \| AGBL5 \| DISEASES 8891 \| EIF2B3 \| DISEASES 80331 \| DNAJC5 \| DISEASES 58484 \| NLRC4 \| DISEASES 4519 \| MT-CYB \| DISEASES 8838 \| WISP3 \| DISEASES 10724 \| MGEA5 \| DISEASES 10981 \| RAB32 \| DISEASES 1520 \| CTSS \| DISEASES 9169 \| SCAF11 \| DISEASES 2556 \| GABRA3 \| DISEASES 2334 \| AFF2 \| DISEASES 2332 \| FMR1 \| DISEASES 51557 \| LGSN \| DISEASES 6342 \| SCP2 \| DISEASES 5476 \| CTSA \| DISEASES 10864 \| SLC22A7 \| DISEASES 22845 \| DOLK \| DISEASES 7099 \| TLR4 \| DISEASES 4758 \| NEU1 \| DISEASES 2262 \| GPC5 \| DISEASES 353 \| APRT \| DISEASES 3980 \| LIG3 \| DISEASES 2098 \| ESD \| DISEASES 138050 \| HGSNAT \| DISEASES 347527 \| ARSH \| DISEASES 293 \| SLC25A6 \| DISEASES 55835 \| CENPJ \| DISEASES 6263 \| RYR3 \| DISEASES 53635 \| PTOV1 \| DISEASES 6996 \| TDG \| DISEASES 8887 \| TAX1BP1 \| DISEASES 7122 \| CLDN5 \| DISEASES 10437 \| IFI30 \| DISEASES 55636 \| CHD7 \| DISEASES 23210 \| JMJD6 \| DISEASES 4988 \| OPRM1 \| DISEASES 1719 \| DHFR \| DISEASES 720 \| C4A \| DISEASES 3109 \| HLA-DMB \| DISEASES 3106 \| HLA-B \| DISEASES 54900 \| LAX1 \| DISEASES 22901 \| ARSG \| DISEASES 3920 \| LAMP2 \| DISEASES 2801 \| GOLGA2 \| DISEASES 222659 \| PXT1 \| DISEASES 81792 \| ADAMTS12 \| DISEASES 64426 \| SUDS3 \| DISEASES 10577 \| NPC2 \| DISEASES 51676 \| ASB2 \| DISEASES 5261 \| PHKG2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	209
Disease	mucopolysaccharidoses
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:36) HP:0007957 \| Corneal clouding \| 2 HP:0001249 \| Mental retardation \| 2 HP:0010535 \| Sleep apnea \| 2 HP:0002870 \| Obstructive sleep apnea \| 2 HP:0002176 \| Spinal cord compression \| 2 HP:0005619 \| Thoracolumbar kyphosis \| 2 HP:0001385 \| Congenital hip dysplasia \| 2 HP:0002808 \| Gibbus deformity \| 2 HP:0008454 \| Rounded lower back \| 2 HP:0002104 \| Absence of spontaneous respiration \| 2 HP:0002196 \| Myelopathy \| 1 HP:0000112 \| Nephropathy \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0000023 \| Inguinal hernia \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0002098 \| Respiratory distress \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0010807 \| Open bite between upper and lower teeth \| 1 HP:0006827 \| Degeneration of the spinal cord \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0000388 \| Otitis media \| 1 HP:0003416 \| Spinal canal stenosis \| 1 HP:0100814 \| Mongolian spot \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0000729 \| Pervasive developmental disorder \| 1 HP:0000389 \| Chronic otitis media \| 1 HP:0012578 \| Membranous glomerulonephritis \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0012447 \| Abnormal myelination \| 1 HP:0005681 \| Juvenile idiopathic arthritis \| 1 HP:0002643 \| Respiratory distress, neonatal \| 1 HP:0100556 \| Hemiatrophy of the body \| 1 HP:0001724 \| Aortic dilatation \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0012393 \| Allergy \| 1

Disease ID	209
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 C0025362 \| mental retardation \| 1 C0020255 \| hydrocephalus \| 1 C0037315 \| sleep apnea \| 1 C1384666 \| hearing loss \| 1

Manually Genotype(Total Text Mining 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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001639	Hypertrophic cardiomyopathy	MP:0005330	cardiomyopathy;

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0010535	Sleep apnea	MP:0000010	abnormal abdominal fat pad morphology;HP:0002318	Cervical myelopathy

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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