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	ORPHANET:585
OMIM	OMIM:272200
DOID	DOID:0050441
UMLS	C0268263
MeSH	D052517
SNOMED-CT	SNOMEDCT_US_2016_09_01:54898003
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
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.)

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