Multiple sulfatase deficiency

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.



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Narrow down the case reports



Total: 19 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(47.5%)		 19066960
 Neonatal manifestation of multiple sulfatase deficiency.
Busche A, Hennermann JB, Burger F, Proquitte H, Dierks T, von Arnim-Baas A, Horn D.
Eur J Pediatr. 2009;168(8):969-73.
Microcephaly Smooth philtrum
ARSH SUMF1
Congenital Dysplasia Of The Hip Face Females Homo sapiens Infant, Newborn Microcephaly Mucopolysaccharidoses Oxidoreductases Acting on Sulfur Group Donors Sulfatases
2
(39.0%)		 26825355
 A Patient With Atypical Multiple Sulfatase Deficiency.
Miskin C, Melvin JJ, Legido A, Wenger DA, Harasink SM, Khurana DS.
Pediatr Neurol. 2016;57:98-100.
Microcephaly
ARSA ARSH
rs137852849
Cerebroside-Sulfatase Child, Preschool Females Homo sapiens Magnetic Resonance Imaging Multiple Sulfatase Deficiency Disease Mutation
2
(39.0%)		 2899861
 Multiple sulfatase deficiency.
Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL.
Neurology. 1988;38(8):1273-5.
Microcephaly
ARSH
Cerebroside-Sulfatase Child Chondro-4-Sulfatase Females Homo sapiens Leukodystrophy, Metachromatic Sulfatases
2
(39.0%)		 1588009
 Saudi variant of multiple sulfatase deficiency.
al Aqeel A, Ozand PT, Brismar J, Gascon GG, Brismar G, Nester M, Sakati N.
J Child Neurol. 1992;7 Suppl:S12-21.
Macrocephaly
ARSH
Child Child, Preschool Chromosome Aberrations Cross-Cultural Comparison Developing Countries Females Genes, Recessive Homo sapiens Infant Leukodystrophy, Metachromatic Male Neurologic Examination Saudi Arabia Sulfatases
5
(38.3%)		 16510683
 Difficulty in recognizing multiple sulfatase deficiency in an infant.
Santos RP, Hoo JJ.
Pediatrics. 2006;117(3):955-8.
Broad thumb
ARSH
Differential Diagnosis Females Homo sapiens Infant Lysosomal Storage Diseases Sphingolipidoses
5
(38.3%)		 11737681
 Unusual clinical presentation in two cases of multiple sulfatase deficiency.
Blanco-Aguirre ME, Kofman-Alfaro SH, Rivera-Vega MR, Medina C, Valdes-Flores M, Rizzo WB, Cuevas-Covarrubias SA.
Pediatr Dermatol. 2001;18(5):388-92.
Hepatosplenomegaly Broad thumb
ARSA ARSH STS
rs1064793391
Adult Homo sapiens Ichthyoses Intellectual Disability Leukodystrophy, Metachromatic Magnetic Resonance Imaging Male
7
(26.3%)		 25373814
 Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Prasad C, Rupar CA, Campbell C, Napier M, Ramsay D, Tay KY, Sharan S, Prasad AN.
Can J Neurol Sci. 2014;41(5):626-31.
Coarse facial features
ARSA ARSH SUMF1
c|SUB|C|1045|T;RS#:147405528|137852846 c|SUB|C|836|T;RS#:137852849 p|SUB|A|279|V;RS#:137852849 p|SUB|R|349|W;RS#:137852846 rs137852849
Albinism, Ocular Child, Preschool Differential Diagnosis Homo sapiens Male Multiple Sulfatase Deficiency Disease
7
(26.3%)		 19697114
 Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.
Artigalas OA, da Silva LR, Burin M, Pastores GM, Zeng B, Macedo N, Schwartz IV.
Metab Brain Dis. 2009;24(3):493-500.
Coarse facial features
ARSH SUMF1
p|SUB|F|244|S p|SUB|R|349|G
Brain Brazil Child, Preschool Dermatan Sulfate Differential Diagnosis Heparitin Sulfate Homo sapiens Intellectual Disability Male Multiple Sulfatase Deficiency Disease Mutation Oxidoreductases Acting on Sulfur Group Donors Sulfatases X-Ray Computed Tomography
7
(26.3%)		 9336808
 Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Castano Suarez E, Segurado Rodriguez A, Guerra Tapia A, Simon de las Heras R, Lopez-Rios F, Coll Rosell MJ.
Pediatr Dermatol. 1997;14(5):369-72.
Coarse facial features
ARSA ARSB ARSH STS
Child Females Homo sapiens Ichthyoses Intellectual Disability Leukocytes Leukodystrophy, Metachromatic Male Skin Sulfatases
7
(26.3%)		 6142938
 Early manifestations of multiple sulfatase deficiency.
Burk RD, Valle D, Thomas GH, Miller C, Moser A, Moser H, Rosenbaum KN.
J Pediatr. 1984;104(4):574-8.
Coarse facial features
ARSH
Cerebroside-Sulfatase Child, Preschool Chondro-4-Sulfatase Differential Diagnosis Fibroblasts Glycosaminoglycans Hexosaminidases Homo sapiens Infant Leukocytes Leukodystrophy, Metachromatic Male Mucopolysaccharidoses Skin Sulfatases Sulfoglycosphingolipids Uronic Acids
        

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000505 Visual impairment Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001319 Neonatal hypotonia Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002376 Developmental regression Very frequent (99-80%)
HP:0003134 Abnormality of peripheral nerve conduction Very frequent (99-80%)
HP:0007307 Rapid neurologic deterioration Very frequent (99-80%)
HP:0008064 Ichthyosis Very frequent (99-80%)
HP:0008155 Mucopolysacchariduria Very frequent (99-80%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000280 Coarse facial features Frequent (79-30%)
HP:0000319 Smooth philtrum Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000574 Thick eyebrow Frequent (79-30%)
HP:0000648 Optic atrophy Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0002208 Coarse hair Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0007703 Abnormality of retinal pigmentation Frequent (79-30%)
HP:0007957 Corneal opacity Frequent (79-30%)
HP:0010059 Broad hallux phalanx Frequent (79-30%)
HP:0011304 Broad thumb Frequent (79-30%)
HP:0000252 Microcephaly Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 6

HPO ID Term # of case reports
HP:0000505 Visual impairment 1
HP:0000580 Pigmentary retinopathy 1
HP:0002180 Neurodegeneration 1
HP:0002341 Cervical cord compression 1
HP:0006882 Severe hydrocephalus 1
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SUMF1 sulfatase modifying factor 1 285362