MSD
MCID: MLT135
MIFTS: 53

Multiple Sulfatase Deficiency (MSD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Multiple Sulfatase Deficiency

Aliases & Descriptions for Multiple Sulfatase Deficiency:

Name: Multiple Sulfatase Deficiency 54 50 24 25 56 66 13 52
Mucosulfatidosis 12 50 24 25 56 66 14
Multiple Sulfatase Deficiency Disease 12 29 42 69
Msd 50 25 56 66
Sulfatidosis, Juvenile, Austin Type 12 24 69
Juvenile Sulfatidosis, Austin Type 25 56
Sulfatidosis Juvenile, Austin Type 50
Sulfatidosis Juvenile Austin Type 66
Juvenile Sulfatidosis 50
Austin Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
multiple sulfatase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
multiple sulfatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 272200
Disease Ontology 12 DOID:0050441
MeSH 42 D052517
NCIt 47 C84908
SNOMED-CT 64 254076009 54898003
Orphanet 56 ORPHA585
ICD10 via Orphanet 34 E75.2
UMLS via Orphanet 70 C0268263 C1720864

Summaries for Multiple Sulfatase Deficiency

OMIM : 54 Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of... (272200) more...

MalaCards based summary : Multiple Sulfatase Deficiency, also known as mucosulfatidosis, is related to metachromatic leukodystrophy and aminoaciduria, and has symptoms including seizures, joint stiffness and macrocephaly. An important gene associated with Multiple Sulfatase Deficiency is SUMF1 (Sulfatase Modifying Factor 1), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include skin, brain and bone, and related phenotype is cellular.

Genetics Home Reference : 25 Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile.

NIH Rare Diseases : 50 multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. the signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. the neonatal type is the most severe form, with symptoms developing soon after birth. the late-infantile type is the most common form and usually presents as progressive loss of mental abilities and movement after a period of normal development. the juvenile type is rare, with a slow regression of psychomotor development in mid to late childhood. life expectancy is shortened in all types. multiple sulfatase deficiency is caused by mutations in the sumf1 gene. it is inherited in an autosomal recessive pattern. there is no cure for multiple sulfatase deficiency. treatment includes physical therapy and supportive services.   last updated: 2/24/2016

UniProtKB/Swiss-Prot : 66 Multiple sulfatase deficiency: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post- translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.

Wikipedia : 71 Multiple sulfatase deficiency (also known as \"Austin disease\", and \"mucosulfatidosis\") is a very... more...

Related Diseases for Multiple Sulfatase Deficiency

Graphical network of the top 20 diseases related to Multiple Sulfatase Deficiency:



Diseases related to Multiple Sulfatase Deficiency

Symptoms & Phenotypes for Multiple Sulfatase Deficiency

Symptoms by clinical synopsis from OMIM:

272200

Clinical features from OMIM:

272200

Human phenotypes related to Multiple Sulfatase Deficiency:

56 32 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 joint stiffness 56 32 Frequent (79-30%) HP:0001387
3 macrocephaly 56 32 Frequent (79-30%) HP:0000256
4 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
5 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
6 developmental regression 56 32 Very frequent (99-80%) HP:0002376
7 coarse facial features 56 32 Frequent (79-30%) HP:0000280
8 cataract 56 32 Frequent (79-30%) HP:0000518
9 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
10 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
11 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
12 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
13 corneal opacity 56 32 Frequent (79-30%) HP:0007957
14 microcephaly 56 32 Occasional (29-5%) HP:0000252
15 smooth philtrum 56 32 Frequent (79-30%) HP:0000319
16 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
17 anteverted nares 56 32 Frequent (79-30%) HP:0000463
18 visual impairment 56 32 Very frequent (99-80%) HP:0000505
19 thick eyebrow 56 32 Frequent (79-30%) HP:0000574
20 optic atrophy 56 32 Frequent (79-30%) HP:0000648
21 neonatal hypotonia 56 32 Very frequent (99-80%) HP:0001319
22 coarse hair 56 32 Frequent (79-30%) HP:0002208
23 abnormality of peripheral nerve conduction 56 32 Very frequent (99-80%) HP:0003134
24 short stature 56 32 Frequent (79-30%) HP:0004322
25 rapid neurologic deterioration 56 32 Very frequent (99-80%) HP:0007307
26 abnormality of retinal pigmentation 56 32 Frequent (79-30%) HP:0007703
27 ichthyosis 56 32 Very frequent (99-80%) HP:0008064
28 mucopolysacchariduria 56 32 Very frequent (99-80%) HP:0008155
29 broad hallux phalanx 56 32 Frequent (79-30%) HP:0010059
30 broad thumb 56 32 Frequent (79-30%) HP:0011304
31 ataxia 32 HP:0001251
32 periorbital edema 32 HP:0100539
33 spasticity 32 HP:0001257
34 hearing impairment 32 HP:0000365
35 dysostosis multiplex 32 HP:0000943
36 prominent forehead 32 HP:0011220
37 flat face 32 HP:0012368
38 ventriculomegaly 32 HP:0002119
39 large forehead 32 HP:0002003
40 cerebellar atrophy 32 HP:0001272
41 cerebral atrophy 32 HP:0002059
42 hypoplastic vertebral bodies 32 HP:0008479
43 abnormality of the periventricular white matter 32 HP:0002518
44 increased csf protein 32 HP:0002922
45 retinal degeneration 32 HP:0000546
46 lower limb hyperreflexia 32 HP:0002395
47 broad hallux 32 HP:0010055
48 peripheral demyelination 32 HP:0011096
49 cns demyelination 32 HP:0007305

UMLS symptoms related to Multiple Sulfatase Deficiency:


ataxia, muscle spasticity, periorbital edema

MGI Mouse Phenotypes related to Multiple Sulfatase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.28 ARSB CTSD GALNS IDS LMAN1 NPC1

Drugs & Therapeutics for Multiple Sulfatase Deficiency

Interventional clinical trials:


id Name Status NCT ID Phase
1 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
2 Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project) Terminated NCT02095015
3 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Multiple Sulfatase Deficiency

Cochrane evidence based reviews: multiple sulfatase deficiency disease

Genetic Tests for Multiple Sulfatase Deficiency

Genetic tests related to Multiple Sulfatase Deficiency:

id Genetic test Affiliating Genes
1 Multiple Sulfatase Deficiency 29 24 SUMF1

Anatomical Context for Multiple Sulfatase Deficiency

MalaCards organs/tissues related to Multiple Sulfatase Deficiency:

39
Skin, Brain, Bone

Publications for Multiple Sulfatase Deficiency

Articles related to Multiple Sulfatase Deficiency:

(show all 43)
id Title Authors Year
1
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? ( 27344646 )
2016
2
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency. ( 28032298 )
2016
3
A Patient With Atypical Multiple Sulfatase Deficiency. ( 26825355 )
2016
4
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency. ( 25885655 )
2015
5
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency. ( 25565547 )
2015
6
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature. ( 25818962 )
2014
7
Multiple sulfatase deficiency with neonatal manifestation. ( 25516103 )
2014
8
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. ( 25373814 )
2014
9
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. ( 23321616 )
2013
10
Multiple sulfatase deficiency: A case series of four children. ( 24339620 )
2013
11
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. ( 21224894 )
2011
12
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. ( 19124046 )
2009
13
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient. ( 19697114 )
2009
14
Neonatal manifestation of multiple sulfatase deficiency. ( 19066960 )
2009
15
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. ( 18157819 )
2008
16
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. ( 18509892 )
2008
17
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. ( 18508857 )
2008
18
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. ( 17657823 )
2007
19
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. ( 17360554 )
2007
20
Difficulty in recognizing multiple sulfatase deficiency in an infant. ( 16510683 )
2006
21
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation. ( 16125993 )
2005
22
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. ( 15907468 )
2005
23
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. ( 15146462 )
2004
24
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. ( 12757706 )
2003
25
[A rare genetic disease: multiple sulfatase deficiency]. ( 14648473 )
2003
26
Multiple sulfatase deficiency is caused by mutations in the gene encoding the Homo sapiens C-alpha-formyglycine-generating enzyme. ( 12757705 )
2003
27
Unusual clinical presentation in two cases of multiple sulfatase deficiency. ( 11737681 )
2001
28
Pitfalls in the diagnosis of multiple sulfatase deficiency. ( 11315200 )
2001
29
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies. ( 9880143 )
1998
30
[Multiple sulfatase deficiency]. ( 9645088 )
1998
31
Ichthyosis: the skin manifestation of multiple sulfatase deficiency. ( 9336808 )
1997
32
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. ( 7628016 )
1995
33
Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case. ( 7709780 )
1994
34
Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. ( 1348358 )
1992
35
Saudi variant of multiple sulfatase deficiency. ( 1588009 )
1992
36
Multiple sulfatase deficiency with early severe retinal degeneration. ( 1875023 )
1991
37
Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies. ( 1694540 )
1990
38
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy. ( 6470909 )
1984
39
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts. ( 6108562 )
1980
40
Multiple sulfatase deficiency (mucosulfatidosis): impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo. ( 7449794 )
1980
41
Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis). ( 159821 )
1979
42
Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy. ( 4272659 )
1974
43
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency. ( 4265903 )
1973

Variations for Multiple Sulfatase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Multiple Sulfatase Deficiency:

66 (show all 14)
id Symbol AA change Variation ID SNP ID
1 SUMF1 p.Ser155Pro VAR_016053 rs137852850
2 SUMF1 p.Cys218Tyr VAR_016054 rs137852854
3 SUMF1 p.Ala279Val VAR_016055 rs137852849
4 SUMF1 p.Cys336Arg VAR_016056 rs137852848
5 SUMF1 p.Arg345Cys VAR_016057 rs137852852
6 SUMF1 p.Ala348Pro VAR_016058 rs137852853
7 SUMF1 p.Arg349Gln VAR_016059 rs137852847
8 SUMF1 p.Arg349Trp VAR_016060 rs137852846
9 SUMF1 p.Leu20Phe VAR_019050 rs200142963
10 SUMF1 p.Ala177Pro VAR_019051
11 SUMF1 p.Arg224Trp VAR_019052 rs759888604
12 SUMF1 p.Asn259Ile VAR_019053 rs764215221
13 SUMF1 p.Pro266Leu VAR_019054 rs763243827
14 SUMF1 p.Trp179Ser VAR_042602 rs757323641

ClinVar genetic disease variations for Multiple Sulfatase Deficiency:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 SUMF1 NM_182760.3(SUMF1): c.519+5_519+8delGTAA deletion Pathogenic rs775324176 GRCh37 Chromosome 3, 4490942: 4490945
2 SUMF1 NM_182760.3(SUMF1): c.1076C> A (p.Ser359Ter) single nucleotide variant Pathogenic rs137852844 GRCh37 Chromosome 3, 4403877: 4403877
3 SUMF1 NM_182760.3(SUMF1): c.979C> T (p.Arg327Ter) single nucleotide variant Pathogenic rs137852845 GRCh37 Chromosome 3, 4418049: 4418049
4 SUMF1 NM_182760.3(SUMF1): c.1045C> T (p.Arg349Trp) single nucleotide variant Pathogenic rs137852846 GRCh37 Chromosome 3, 4403908: 4403908
5 SUMF1 NM_182760.3(SUMF1): c.1046G> A (p.Arg349Gln) single nucleotide variant Pathogenic rs137852847 GRCh37 Chromosome 3, 4403907: 4403907
6 SUMF1 NM_182760.3(SUMF1): c.1006T> C (p.Cys336Arg) single nucleotide variant Pathogenic rs137852848 GRCh37 Chromosome 3, 4418022: 4418022
7 SUMF1 NM_001164675.1(SUMF1): c.836C> T (p.Ala279Val) single nucleotide variant Pathogenic/Likely pathogenic rs137852849 GRCh37 Chromosome 3, 4458816: 4458816
8 SUMF1 SUMF1, 1-BP DEL, 243C deletion Pathogenic
9 SUMF1 NM_182760.3(SUMF1): c.661delG (p.Ala221Glnfs) deletion Pathogenic rs770241913 GRCh37 Chromosome 3, 4459758: 4459758
10 SUMF1 NM_182760.3(SUMF1): c.463T> C (p.Ser155Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137852850 GRCh37 Chromosome 3, 4491006: 4491006
11 SUMF1 NM_182760.3(SUMF1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs137852851 GRCh37 Chromosome 3, 4508928: 4508928
12 SUMF1 SUMF1, 1-BP DEL, 276C deletion Pathogenic
13 SUMF1 NM_182760.3(SUMF1): c.1033C> T (p.Arg345Cys) single nucleotide variant Pathogenic rs137852852 GRCh37 Chromosome 3, 4403920: 4403920
14 SUMF1 NM_182760.3(SUMF1): c.1042G> C (p.Ala348Pro) single nucleotide variant Pathogenic rs137852853 GRCh37 Chromosome 3, 4403911: 4403911
15 SUMF1 NM_182760.3(SUMF1): c.653G> A (p.Cys218Tyr) single nucleotide variant Pathogenic rs137852854 GRCh37 Chromosome 3, 4459766: 4459766
16 SUMF1 SUMF1, IVS5AS, 1-BP DEL, -2A deletion Pathogenic
17 SUMF1 NM_182760.3(SUMF1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137852855 GRCh37 Chromosome 3, 4508929: 4508929
18 SUMF1 NM_182760.3(SUMF1): c.788G> T (p.Gly263Val) single nucleotide variant Pathogenic rs387906976 GRCh37 Chromosome 3, 4458864: 4458864
19 SUMF1 NM_182760.3(SUMF1): c.739G> C (p.Gly247Arg) single nucleotide variant Likely pathogenic rs1057517363 GRCh37 Chromosome 3, 4458913: 4458913

Expression for Multiple Sulfatase Deficiency

Search GEO for disease gene expression data for Multiple Sulfatase Deficiency.

Pathways for Multiple Sulfatase Deficiency

GO Terms for Multiple Sulfatase Deficiency

Cellular components related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.97 ERP44 LMAN1 NPC1 P4HB PDIA2 STS
2 lysosome GO:0005764 9.81 ARSA ARSB CTSD GALNS GNS IDS
3 ficolin-1-rich granule lumen GO:1904813 9.63 ARSB CTSD GNS
4 azurophil granule lumen GO:0035578 9.62 ARSA ARSB GALNS GNS
5 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.61 ERP44 LMAN1 P4HB
6 lysosomal lumen GO:0043202 9.5 ARSA ARSB CTSD GALNS GNS IDS
7 endoplasmic reticulum lumen GO:0005788 9.28 ARSA ARSB ARSH ERP44 P4HB PDIA2
8 extracellular region GO:0005576 10.06 ARSA ARSB CTSD ERP44 GALNS GNS
9 extracellular exosome GO:0070062 10 ARSA ARSB CTSD ERP44 GALNS GNS

Biological processes related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.8 ARSA ARSB CTSD ERP44 GALNS GNS
2 protein folding GO:0006457 9.76 ERP44 LMAN1 P4HB PDIA2
3 autophagy GO:0006914 9.73 ARSA ARSB CTSD NPC1
4 post-translational protein modification GO:0043687 9.7 ARSA ARSB ARSH P4HB STS SUMF1
5 response to endoplasmic reticulum stress GO:0034976 9.67 ERP44 P4HB PDIA2
6 cell redox homeostasis GO:0045454 9.56 ERP44 P4HB PDIA2 TXN
7 metabolic process GO:0008152 9.56 ARSA ARSB ARSH GALNS GNS IDS
8 chondroitin sulfate catabolic process GO:0030207 9.55 ARSB IDS
9 response to pH GO:0009268 9.54 ARSA ARSB
10 glycosaminoglycan catabolic process GO:0006027 9.54 GNS IDS SGSH
11 keratan sulfate catabolic process GO:0042340 9.52 GALNS GNS
12 lysosomal transport GO:0007041 9.51 ARSB NPC1
13 response to methylmercury GO:0051597 9.48 ARSA ARSB
14 regulation of oxidative stress-induced intrinsic apoptotic signaling pathway GO:1902175 9.4 P4HB PDIA2
15 glycosphingolipid metabolic process GO:0006687 9.02 ARSA ARSB ARSH STS SUMF1

Molecular functions related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.97 ARSA ARSB ARSH CTSD GALNS GNS
2 protein disulfide isomerase activity GO:0003756 9.43 ERP44 P4HB PDIA2
3 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.37 ARSB GALNS
4 arylsulfatase activity GO:0004065 9.33 ARSA ARSB ARSH
5 sulfuric ester hydrolase activity GO:0008484 9.23 ARSA ARSB ARSH GALNS GNS IDS
6 peptide disulfide oxidoreductase activity GO:0015037 9.13 P4HB PDIA2 TXN
7 metal ion binding GO:0046872 10.14 ARSA ARSB ARSH GALNS GNS IDS

Sources for Multiple Sulfatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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