PedAM
Pediatric Disease Annotations & Medicines
| mucopolysaccharidosis ii | ||||
| Disease ID | 1104 |
|---|---|
| Disease | mucopolysaccharidosis ii |
| Definition | Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. |
| Synonym | deficiency of iduronate-2-sulfatase deficiency of iduronate-2-sulfatase (disorder) deficiency of iduronate-2-sulphatase disease hunters diseases hunters gargoylism, hunter syndrome hunter disease hunter syndrome hunter syndrome gargoylism hunter's syndrome hunters syndrome ids deficiency iduronate 2-sulfatase deficiency iduronate 2-sulphatase deficiency iduronate sulfatase deficiency iduronate sulphatase deficiency mps 2 mps 2 - mucopolysaccharidosis 2 mps ii mps2 mpsii - mucopolysaccharidosis type ii mucopolysaccharidosis 2 mucopolysaccharidosis ii [disease/finding] mucopolysaccharidosis type 2 mucopolysaccharidosis type ii mucopolysaccharidosis type ii (disorder) mucopolysaccharidosis, mps-ii mucopolysaccharidosis, mps-ii (disorder) mucopolysaccharidosis, type ii sids deficiency sulfo-iduronate sulfatase deficiency sulfoiduronate sulfatase deficiency sulfoiduronidate sulfatase deficiency sulpho-iduronate sulphatase deficiency sulphoiduronidate sulphatase deficiency syndrome, hunter syndrome, hunter's |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0026705 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:55) 4074 | M6PR | DISEASES 1407 | CRY1 | DISEASES 7544 | ZFY | DISEASES 5816 | PVALB | DISEASES 2158 | F9 | DISEASES 2717 | GLA | DISEASES 4669 | NAGLU | DISEASES 3425 | IDUA | DISEASES 8864 | PER2 | DISEASES 182 | JAG1 | DISEASES 2799 | GNS | DISEASES 950 | SCARB2 | DISEASES 411 | ARSB | DISEASES 6507 | SLC1A3 | DISEASES 793 | CALB1 | DISEASES 55749 | CCAR1 | DISEASES 56938 | ARNTL2 | DISEASES 60314 | C12orf10 | DISEASES 3073 | HEXA | DISEASES 2588 | GALNS | DISEASES 285362 | SUMF1 | DISEASES 6872 | TAF1 | DISEASES 6506 | SLC1A2 | DISEASES 6768 | ST14 | DISEASES 10225 | CD96 | DISEASES 3678 | ITGA5 | DISEASES 3251 | HPRT1 | DISEASES 7543 | ZFX | DISEASES 5093 | PCBP1 | DISEASES 2548 | GAA | DISEASES 2720 | GLB1 | DISEASES 6448 | SGSH | DISEASES 682 | BSG | DISEASES 6622 | SNCA | DISEASES 2290 | FOXG1 | DISEASES 3423 | IDS | DISEASES 6427 | SRSF2 | DISEASES 2157 | F8 | DISEASES 8891 | EIF2B3 | DISEASES 6663 | SOX10 | DISEASES 3897 | L1CAM | DISEASES 2556 | GABRA3 | DISEASES 4534 | MTM1 | DISEASES 2334 | AFF2 | DISEASES 2332 | FMR1 | DISEASES 367 | AR | DISEASES 2098 | ESD | DISEASES 347527 | ARSH | DISEASES 4267 | CD99 | DISEASES 53635 | PTOV1 | DISEASES 55636 | CHD7 | DISEASES 146713 | RBFOX3 | DISEASES 23210 | JMJD6 | DISEASES 3109 | HLA-DMB | DISEASES 51366 | UBR5 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1104 |
|---|---|
| Disease | mucopolysaccharidosis ii |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1104 |
|---|---|
| Disease | mucopolysaccharidosis ii |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:32) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894853 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149490322 | G | A |
| rs104894856 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149500977 | G | C |
| rs104894860 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149498301 | G | T,A |
| rs104894861 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149503326 | T | C |
| rs104894862 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149482935 | C | A |
| rs104894863 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149482933 | C | G |
| rs113993946 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149482996 | C | T,G,A |
| rs113993946 | 9375851 | 3423 | IDS | umls:C0026705 | BeFree | Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. | 0.47558868 | 1997 | IDS | X | 149482996 | C | T,G,A |
| rs113993948 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149486983 | G | A |
| rs113993949 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149503477 | C | T |
| rs145807417 | 9762601 | 3423 | IDS | umls:C0026705 | UNIPROT | Hunter disease in the Spanish population: molecular analysis in 31 families. | 0.47558868 | 1998 | IDS | X | 149490395 | T | C |
| rs146458524 | 8940265 | 3423 | IDS | umls:C0026705 | UNIPROT | Mucopolysaccharidosis type II (Hunter syndrome): mutation hot spots in the iduronate-2-sulfatase gene. | 0.47558868 | 1996 | IDS | X | 149496471 | C | A,T |
| rs199422227 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149483072 | G | T,A |
| rs199422228 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149482894 | C | G |
| rs199422229 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149483135 | A | C |
| rs199422230 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149482974 | C | T |
| rs199422231 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149482997 | G | A |
| rs28937310 | 8281149 | 3423 | IDS | umls:C0026705 | UNIPROT | Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). | 0.47558868 | 1993 | NA | NA | NA | NA | NA |
| rs28937311 | 1303211 | 3423 | IDS | umls:C0026705 | UNIPROT | Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). | 0.47558868 | 1992 | NA | NA | NA | NA | NA |
| rs398123247 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149505034 | C | G |
| rs398123248 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149482891 | A | T |
| rs398123249 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149503468 | G | A |
| rs398123250 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149498228 | A | G |
| rs398123251 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149498218 | T | - |
| rs483352904 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149498305 | TG | - |
| rs483352905 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149503379 | GGA | - |
| rs797044502 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149486957 | G | - |
| rs797044671 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149504188 | - | G |
| rs797044703 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149503412 | - | TTGA |
| rs797044750 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149498124 | - | A |
| rs797044770 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149496392 | - | CTTCCCTTAAACAT |
| rs797044782 | NA | 3423 | IDS | umls:C0026705 | CLINVAR | NA | 0.47558868 | NA | IDS | X | 149487106 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (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) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |