multiple sulfatase deficiency |
Disease ID | 359 |
---|---|
Disease | multiple sulfatase deficiency |
Definition | An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid. |
Synonym | msd mucosulfatidosis mucosulphatidosis multiple sulfatase defic multiple sulfatase defic dis multiple sulfatase deficiencies multiple sulfatase deficiency (disorder) multiple sulfatase deficiency disease multiple sulfatase deficiency disease [disease/finding] multiple sulfatase deficiency, nos multiple sulphatase defic dis multiple sulphatase deficiency multiple sulphatase deficiency (disorder) multiple sulphatase deficiency disease sulfatidosis, juvenile, austin type |
Orphanet | |
OMIM | |
DOID | |
UMLS | C0268263 |
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:6) |
Locus | Symbol | Locus(Total Locus:1) SUMF1 | 3p26.1 |
Disease ID | 359 |
---|---|
Disease | multiple sulfatase deficiency |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:30) HP:0000407 | Sensorineural hearing impairment HP:0002208 | Coarse hair HP:0008155 | Mucopolysacchariduria HP:0001263 | Global developmental delay HP:0008064 | Ichthyosis HP:0004322 | Short stature HP:0001744 | Splenomegaly HP:0011304 | Broad thumb HP:0001250 | Seizures HP:0000238 | Hydrocephalus HP:0003134 | Abnormality of peripheral nerve conduction HP:0007957 | Corneal opacity HP:0000280 | Coarse facial features HP:0002376 | Developmental regression HP:0000574 | Thick eyebrow HP:0002240 | Hepatomegaly HP:0000319 | Smooth philtrum HP:0000505 | Visual impairment HP:0007307 | Rapid neurologic deterioration HP:0001319 | Neonatal hypotonia HP:0010059 | Broad hallux phalanx HP:0005280 | Depressed nasal bridge HP:0000256 | Macrocephaly HP:0000518 | Cataract HP:0007703 | Abnormality of retinal pigmentation HP:0000252 | Microcephaly HP:0001249 | Intellectual disability HP:0000648 | Optic atrophy HP:0000463 | Anteverted nares HP:0001387 | Joint stiffness |
Text Mined Phenotype | (Waiting for update.) |
Disease ID | 359 |
---|---|
Disease | multiple sulfatase deficiency |
Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0037285 | skin manifestation |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
---|
(Waiting for update.) |
All Snps(Total Genotypes:15) | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs137852844 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4362193 | G | T,A |
rs137852845 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4376365 | G | A |
rs137852846 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4362224 | G | A |
rs137852847 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4362223 | C | T |
rs137852848 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4376338 | A | G |
rs137852849 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4417132 | G | A |
rs137852850 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4449322 | A | G |
rs137852851 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4467244 | A | C |
rs137852852 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4362236 | G | A |
rs137852853 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4362227 | C | G |
rs137852854 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4418082 | C | T |
rs137852855 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4467245 | T | C |
rs387906976 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4417180 | C | A |
rs770241913 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4418074 | C | - |
rs775324176 | NA | 285362 | SUMF1 | umls:C0268263 | CLINVAR | NA | 0.563257302 | NA | SUMF1 | 3 | 4449258 | TTAC | - |
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.) |