Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines



   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)
SUMF1  |  285362  |  CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:6)
410  |  ARSA  |  DISEASES
1509  |  CTSD  |  DISEASES
411  |  ARSB  |  DISEASES
285362  |  SUMF1  |  DISEASES
6448  |  SGSH  |  DISEASES
347527  |  ARSH  |  DISEASES
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
rs137852844NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134362193GT,A
rs137852845NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134376365GA
rs137852846NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134362224GA
rs137852847NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134362223CT
rs137852848NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134376338AG
rs137852849NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134417132GA
rs137852850NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134449322AG
rs137852851NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134467244AC
rs137852852NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134362236GA
rs137852853NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134362227CG
rs137852854NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134418082CT
rs137852855NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134467245TC
rs387906976NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134417180CA
rs770241913NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134418074C-
rs775324176NA285362SUMF1umls:C0268263CLINVARNA0.563257302NASUMF134449258TTAC-
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.)