eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mucopolysaccharidosis vii | ||||
| Disease ID | 1094 |
|---|---|
| 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 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0085132 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0022116 | ischemia | 1 C0008354 | cholera | 1 C0024623 | gastric cancer | 1 C0852949 | arterial disease | 1 C0008354 | vibrio cholerae | 1 C0037274 | skin disease | 1 C0006142 | breast cancer | 1 C0026265 | mitral valve disease | 1 C0026846 | muscle atrophy | 1 C0036341 | schizophrenia | 1 C0036454 | visual field defect | 1 C0021400 | influenza | 1 C0006840 | candidiasis | 1 C0028754 | obesity | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:19) 347527 | ARSH | 2.363 | DISEASES 682 | BSG | 2.104 | DISEASES 720 | C4A | 1.403 | DISEASES 5476 | CTSA | 1.66 | DISEASES 1508 | CTSB | 1.895 | DISEASES 1520 | CTSS | 2.212 | DISEASES 1735 | DIO3 | 2.684 | DISEASES 8788 | DLK1 | 1.914 | DISEASES 3376 | IARS | 1.489 | DISEASES 3482 | IGF2R | 1.747 | DISEASES 3660 | IRF2 | 2.35 | DISEASES 3716 | JAK1 | 1.163 | DISEASES 3778 | KCNMA1 | 1.653 | DISEASES 54900 | LAX1 | 1.748 | DISEASES 26151 | NAT9 | 1.824 | DISEASES 58484 | NLRC4 | 2.887 | DISEASES 5625 | PRODH | 2.164 | DISEASES 6609 | SMPD1 | 1.587 | DISEASES 8887 | TAX1BP1 | 3.167 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1094 |
|---|---|
| Disease | mucopolysaccharidosis vii |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:18) HP:0002664 | Neoplasia | 3 HP:0001631 | Atria septal defect | 2 HP:0012531 | Pain | 2 HP:0000924 | Abnormality of the skeletal system | 2 HP:0002013 | Emesis | 1 HP:0003202 | Neurogenic muscle atrophy, especially in the lower limbs | 1 HP:0002527 | Falls | 1 HP:0100753 | Schizophrenia | 1 HP:0009733 | Glioma | 1 HP:0002829 | Arthralgias | 1 HP:0004904 | Maturity-onset diabetes of the young | 1 HP:0001123 | Partial loss of field of vision | 1 HP:0002063 | Muscle rigidity | 1 HP:0012126 | Gastric cancer | 1 HP:0001513 | Obesity | 1 HP:0001724 | Aortic dilatation | 1 HP:0003002 | Breast carcinoma | 1 HP:0002176 | Spinal cord compression | 1 |
| Disease ID | 1094 |
|---|---|
| Disease | mucopolysaccharidosis vii |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1094 |
|---|---|
| Disease | mucopolysaccharidosis vii |
| Case | (Waiting for update.) |