PedAM

Pediatric Disease Annotations & Medicines


	mucopolysaccharidosis vii

Disease ID	609
Disease	mucopolysaccharidosis vii
Definition	Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
Synonym	beta glucuronidase deficiency beta-glucuronidase deficiencies beta-glucuronidase deficiency deficiencies, beta-glucuronidase deficiencies, gusb deficiency of beta-glucuronidase deficiency of beta-glucuronidase (disorder) deficiency, beta-glucuronidase deficiency, gusb disease, sly gus deficiency gusb deficiencies gusb deficiency mps 7 mps vii mps vii - mucopolysaccharidosis vii mps7 mucopolysaccharidosis 7 mucopolysaccharidosis type vii mucopolysaccharidosis type vii (disorder) mucopolysaccharidosis type viis mucopolysaccharidosis vii [disease/finding] mucopolysaccharidosis viis mucopolysaccharidosis, mps-vii mucopolysaccharidosis, mps-vii (disorder) mucopolysaccharidosis, type vii sly dis sly disease sly syndrome syndrome, sly type vii, mucopolysaccharidosis type viis, mucopolysaccharidosis viis, mucopolysaccharidosis
OMIM	OMIM:253220
DOID	DOID:12803
UMLS	C0085132
MeSH	D016538
SNOMED-CT	SNOMEDCT_US_2016_09_01:43916004;SNOMEDCT_US_2016_09_01:124470009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0026265 \| mitral valve disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) GUSB \| 2990 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:46) 4074 \| M6PR \| DISEASES 5009 \| OTC \| DISEASES 1634 \| DCN \| DISEASES 410 \| ARSA \| DISEASES 2717 \| GLA \| DISEASES 4849 \| CNOT3 \| DISEASES 3082 \| HGF \| DISEASES 858 \| CAV2 \| DISEASES 4126 \| MANBA \| DISEASES 7130 \| TNFAIP6 \| DISEASES 3425 \| IDUA \| DISEASES 3976 \| LIF \| DISEASES 10993 \| SDS \| DISEASES 2799 \| GNS \| DISEASES 4591 \| TRIM37 \| DISEASES 60482 \| SLC5A7 \| DISEASES 57192 \| MCOLN1 \| DISEASES 7297 \| TYK2 \| DISEASES 950 \| SCARB2 \| DISEASES 411 \| ARSB \| DISEASES 1462 \| VCAN \| DISEASES 3073 \| HEXA \| DISEASES 2588 \| GALNS \| DISEASES 2990 \| GUSB \| DISEASES 2548 \| GAA \| DISEASES 2720 \| GLB1 \| DISEASES 6448 \| SGSH \| DISEASES 682 \| BSG \| DISEASES 8788 \| DLK1 \| DISEASES 6609 \| SMPD1 \| DISEASES 1508 \| CTSB \| DISEASES 3716 \| JAK1 \| DISEASES 3482 \| IGF2R \| DISEASES 5625 \| PRODH \| DISEASES 26151 \| NAT9 \| DISEASES 1735 \| DIO3 \| DISEASES 58484 \| NLRC4 \| DISEASES 1520 \| CTSS \| DISEASES 5476 \| CTSA \| DISEASES 3376 \| IARS \| DISEASES 347527 \| ARSH \| DISEASES 3660 \| IRF2 \| DISEASES 8887 \| TAX1BP1 \| DISEASES 3778 \| KCNMA1 \| DISEASES 720 \| C4A \| DISEASES 54900 \| LAX1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	609
Disease	mucopolysaccharidosis vii
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001724 \| Aortic dilatation \| 1

Disease ID	609
Disease	mucopolysaccharidosis vii
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0260662 \| auditory dysfunction C0007302 \| cartilage disease
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:23)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918172	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65960997	G	A
rs121918172	9543069	2990	GUSB	umls:C0085132	BeFree	Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.	0.574386419	1998	GUSB	7	65960997	G	A
rs121918173	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65974626	G	A
rs121918174	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65979477	G	A
rs121918175	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65974923	G	A
rs121918176	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65961022	G	A
rs121918177	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65979866	G	A
rs121918178	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65967900	T	C
rs121918179	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65967863	C	T
rs121918180	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65974348	C	T
rs121918181	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65979782	G	A
rs121918182	12522561	2990	GUSB	umls:C0085132	UNIPROT	Here, we report the identification of two novel missense mutations K350N and R577L in a 37-year-old patient with beta-glucuronidase deficiency and a relatively mild MPS VII phenotype.	0.574386419	2003	GUSB	7	65974934	C	T,G
rs121918182	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65974934	C	T,G
rs121918183	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65964382	C	A
rs121918184	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65960972	C	A
rs121918185	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65974701	G	A
rs191153460	8644704	2990	GUSB	umls:C0085132	UNIPROT	Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.	0.574386419	1996	GUSB	7	65974933	G	A
rs377519272	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65967767	G	A
rs398123234	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65974686	C	T
rs398123238	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65976061	C	T
rs587779400	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65979778	G	A
rs786200863	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65973676	GA	-
rs794726973	NA	2990	GUSB	umls:C0085132	CLINVAR	NA	0.574386419	NA	GUSB	7	65967850	C	T

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.)