eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| multiple sulfatase deficiency | ||||
| Disease ID | 569 |
|---|---|
| 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:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | Symbol | Locus(Total Locus:1) SUMF1 | 3p26.1 |
| Disease ID | 569 |
|---|---|
| Disease | multiple sulfatase deficiency |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:30) HP:0001263 | Global developmental delay HP:0000518 | Cataract HP:0004322 | Short stature HP:0002376 | Developmental regression HP:0005280 | Depressed nasal bridge HP:0007307 | Rapid neurologic deterioration HP:0000574 | Thick eyebrow HP:0000407 | Sensorineural hearing impairment HP:0002208 | Coarse hair HP:0003134 | Abnormality of peripheral nerve conduction HP:0001250 | Seizures HP:0007957 | Corneal opacity HP:0000256 | Macrocephaly HP:0000252 | Microcephaly HP:0000319 | Smooth philtrum HP:0000648 | Optic atrophy HP:0002240 | Hepatomegaly HP:0007703 | Abnormality of retinal pigmentation HP:0010059 | Broad hallux phalanx HP:0001249 | Intellectual disability HP:0001319 | Neonatal hypotonia HP:0001744 | Splenomegaly HP:0000505 | Visual impairment HP:0001387 | Joint stiffness HP:0000463 | Anteverted nares HP:0008155 | Mucopolysacchariduria HP:0011304 | Broad thumb HP:0000280 | Coarse facial features HP:0000238 | Hydrocephalus HP:0008064 | Ichthyosis |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 569 |
|---|---|
| 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.) |
Text Mining Genotype(Total 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:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001319 | Neonatal hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002208 | Coarse hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000319 | Smooth philtrum | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001319 | Neonatal hypotonia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002208 | Coarse hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000574 | Thick eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0003134 | Abnormality of peripheral nerve conduction | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0008155 | Mucopolysacchariduria | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0007307 | Rapid neurologic deterioration | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0008064 | Ichthyosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011304 | Broad thumb | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| Disease ID | 569 |
|---|---|
| Disease | multiple sulfatase deficiency |
| Case | (Waiting for update.) |