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

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Aliases & Descriptions for Multiple Sulfatase Deficiency:

Name: Multiple Sulfatase Deficiency 52 48 24 25 54 70 12 50
Mucosulfatidosis 11 48 24 25 54 70 13
Multiple Sulfatase Deficiency Disease 11 27 39 68
Msd 48 25 54 70
Sulfatidosis, Juvenile, Austin Type 11 24 68
 
Juvenile Sulfatidosis, Austin Type 25 54
Sulfatidosis Juvenile, Austin Type 48
Sulfatidosis Juvenile Austin Type 70
Juvenile Sulfatidosis 48
Austin Syndrome 25

Characteristics:

Orphanet epidemiological data:

54
multiple sulfatase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
multiple sulfatase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 272200
Disease Ontology11 DOID:0050441
MeSH39 D052517
NCIt45 C84908
SNOMED-CT62 254076009, 54898003
Orphanet54 ORPHA585
ICD10 via Orphanet31 E75.2
UMLS via Orphanet69 C0268263, C1720864

Summaries for Multiple Sulfatase Deficiency

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OMIM:52 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 ataxia, ataxia and muscle spasticity. An important gene associated with Multiple Sulfatase Deficiency is SUMF1 (Sulfatase Modifying Factor 1), and among its related pathways are Glycosaminoglycan degradation and Sphingolipid metabolism. Affiliated tissues include skin, brain and bone, and related mouse phenotype 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:48 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:70 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

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



Diseases related to multiple sulfatase deficiency

Symptoms & Phenotypes for Multiple Sulfatase Deficiency

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Symptoms by clinical synopsis from OMIM:

272200

Clinical features from OMIM:

272200

Human phenotypes related to Multiple Sulfatase Deficiency:

 54 64 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus64 54 Frequent (79-30%) HP:0000238
2 microcephaly64 54 Occasional (29-5%) HP:0000252
3 macrocephaly64 54 Frequent (79-30%) HP:0000256
4 coarse facial features64 54 Frequent (79-30%) HP:0000280
5 smooth philtrum64 54 Frequent (79-30%) HP:0000319
6 sensorineural hearing impairment64 54 Frequent (79-30%) HP:0000407
7 anteverted nares64 54 Frequent (79-30%) HP:0000463
8 visual impairment64 54 Very frequent (99-80%) HP:0000505
9 cataract64 54 Frequent (79-30%) HP:0000518
10 thick eyebrow64 54 Frequent (79-30%) HP:0000574
11 optic atrophy64 54 Frequent (79-30%) HP:0000648
12 intellectual disability64 54 Very frequent (99-80%) HP:0001249
13 seizures64 54 Frequent (79-30%) HP:0001250
14 global developmental delay64 54 Very frequent (99-80%) HP:0001263
15 neonatal hypotonia64 54 Very frequent (99-80%) HP:0001319
16 joint stiffness64 54 Frequent (79-30%) HP:0001387
17 splenomegaly64 54 Very frequent (99-80%) HP:0001744
18 coarse hair64 54 Frequent (79-30%) HP:0002208
19 hepatomegaly64 54 Very frequent (99-80%) HP:0002240
20 developmental regression64 54 Very frequent (99-80%) HP:0002376
21 abnormality of peripheral nerve conduction64 54 Very frequent (99-80%) HP:0003134
22 short stature64 54 Frequent (79-30%) HP:0004322
23 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
24 rapid neurologic deterioration64 54 Very frequent (99-80%) HP:0007307
25 abnormality of retinal pigmentation64 54 Frequent (79-30%) HP:0007703
26 corneal opacity64 54 Frequent (79-30%) HP:0007957
27 ichthyosis64 54 Very frequent (99-80%) HP:0008064
28 mucopolysacchariduria64 54 Very frequent (99-80%) HP:0008155
29 broad hallux phalanx64 54 Frequent (79-30%) HP:0010059
30 broad thumb64 54 Frequent (79-30%) HP:0011304
31 hearing impairment64 HP:0000365
32 retinal degeneration64 HP:0000546
33 dysostosis multiplex64 HP:0000943
34 ataxia64 HP:0001251
35 spasticity64 HP:0001257
36 cerebellar atrophy64 HP:0001272
37 large forehead64 HP:0002003
38 cerebral atrophy64 HP:0002059
39 ventriculomegaly64 HP:0002119
40 lower limb hyperreflexia64 HP:0002395
41 abnormality of the periventricular white matter64 HP:0002518
42 increased csf protein64 HP:0002922
43 cns demyelination64 HP:0007305
44 hypoplastic vertebral bodies64 HP:0008479
45 broad hallux64 HP:0010055
46 peripheral demyelination64 HP:0011096
47 prominent forehead64 HP:0011220
48 flat face64 HP:0012368
49 periorbital edema64 HP:0100539

UMLS symptoms related to Multiple Sulfatase Deficiency:


ataxia, muscle spasticity, periorbital edema

MGI Mouse Phenotypes related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.1ARSB, CTSD, GALNS, IDS, LMAN1, NPC1

Drugs & Therapeutics for Multiple Sulfatase Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip DiseaseCompletedNCT01707433
2Mucopolysaccharidosis (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)TerminatedNCT02095015
3Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVaWithdrawnNCT02153255

Search NIH Clinical Center for Multiple Sulfatase Deficiency


Cochrane evidence based reviews: multiple sulfatase deficiency disease

Genetic Tests for Multiple Sulfatase Deficiency

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Genetic tests related to Multiple Sulfatase Deficiency:

id Genetic test Affiliating Genes
1 Multiple Sulfatase Deficiency27 24 SUMF1

Anatomical Context for Multiple Sulfatase Deficiency

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MalaCards organs/tissues related to Multiple Sulfatase Deficiency:

36
Skin, Brain, Bone

Publications for Multiple Sulfatase Deficiency

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Articles related to Multiple Sulfatase Deficiency:

(show all 43)
idTitleAuthorsYear
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

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

70 (show all 14)
id Symbol AA change Variation ID SNP ID
1SUMF1p.Ser155ProVAR_016053rs137852850
2SUMF1p.Cys218TyrVAR_016054rs137852854
3SUMF1p.Ala279ValVAR_016055rs137852849
4SUMF1p.Cys336ArgVAR_016056rs137852848
5SUMF1p.Arg345CysVAR_016057rs137852852
6SUMF1p.Ala348ProVAR_016058rs137852853
7SUMF1p.Arg349GlnVAR_016059rs137852847
8SUMF1p.Arg349TrpVAR_016060rs137852846
9SUMF1p.Leu20PheVAR_019050rs200142963
10SUMF1p.Ala177ProVAR_019051
11SUMF1p.Arg224TrpVAR_019052rs759888604
12SUMF1p.Asn259IleVAR_019053rs764215221
13SUMF1p.Pro266LeuVAR_019054rs763243827
14SUMF1p.Trp179SerVAR_042602rs757323641

Clinvar genetic disease variations for Multiple Sulfatase Deficiency:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1SUMF1NM_ 182760.3(SUMF1): c.519+5_ 519+8delGTAAdeletionPathogenicrs775324176GRCh37Chr 3, 4490942: 4490945
2SUMF1NM_ 182760.3(SUMF1): c.1076C> A (p.Ser359Ter)SNVPathogenicrs137852844GRCh37Chr 3, 4403877: 4403877
3SUMF1NM_ 182760.3(SUMF1): c.979C> T (p.Arg327Ter)SNVPathogenicrs137852845GRCh37Chr 3, 4418049: 4418049
4SUMF1NM_ 182760.3(SUMF1): c.1045C> T (p.Arg349Trp)SNVPathogenicrs137852846GRCh37Chr 3, 4403908: 4403908
5SUMF1NM_ 182760.3(SUMF1): c.1046G> A (p.Arg349Gln)SNVPathogenicrs137852847GRCh37Chr 3, 4403907: 4403907
6SUMF1NM_ 182760.3(SUMF1): c.1006T> C (p.Cys336Arg)SNVPathogenicrs137852848GRCh37Chr 3, 4418022: 4418022
7SUMF1NM_ 001164675.1(SUMF1): c.836C> T (p.Ala279Val)SNVPathogenic/ Likely pathogenicrs137852849GRCh37Chr 3, 4458816: 4458816
8SUMF1SUMF1, 1-BP DEL, 243CdeletionPathogenic
9SUMF1NM_ 182760.3(SUMF1): c.661delG (p.Ala221Glnfs)deletionPathogenicrs770241913GRCh37Chr 3, 4459758: 4459758
10SUMF1NM_ 182760.3(SUMF1): c.463T> C (p.Ser155Pro)SNVPathogenic/ Likely pathogenicrs137852850GRCh37Chr 3, 4491006: 4491006
11SUMF1NM_ 182760.3(SUMF1): c.2T> G (p.Met1Arg)SNVPathogenicrs137852851GRCh37Chr 3, 4508928: 4508928
12SUMF1SUMF1, 1-BP DEL, 276CdeletionPathogenic
13SUMF1NM_ 182760.3(SUMF1): c.1033C> T (p.Arg345Cys)SNVPathogenicrs137852852GRCh37Chr 3, 4403920: 4403920
14SUMF1NM_ 182760.3(SUMF1): c.1042G> C (p.Ala348Pro)SNVPathogenicrs137852853GRCh37Chr 3, 4403911: 4403911
15SUMF1NM_ 182760.3(SUMF1): c.653G> A (p.Cys218Tyr)SNVPathogenicrs137852854GRCh37Chr 3, 4459766: 4459766
16SUMF1SUMF1, IVS5AS, 1-BP DEL, -2AdeletionPathogenic
17SUMF1NM_ 182760.3(SUMF1): c.1A> G (p.Met1Val)SNVPathogenicrs137852855GRCh37Chr 3, 4508929: 4508929
18SUMF1NM_ 182760.3(SUMF1): c.788G> T (p.Gly263Val)SNVPathogenicrs387906976GRCh37Chr 3, 4458864: 4458864
19SUMF1NM_ 182760.3(SUMF1): c.739G> C (p.Gly247Arg)SNVLikely pathogenicrs1057517363GRCh37Chr 3, 4458913: 4458913

Expression for genes affiliated with Multiple Sulfatase Deficiency

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

Pathways for genes affiliated with Multiple Sulfatase Deficiency

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GO Terms for genes affiliated with Multiple Sulfatase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1azurophil granule lumenGO:003557810.2ARSA, ARSB, GALNS, GNS
2ficolin-1-rich granule lumenGO:190481310.1ARSB, CTSD, GNS
3endoplasmic reticulum-Golgi intermediate compartmentGO:000579310.0ERP44, LMAN1, P4HB
4lysosomal lumenGO:00432028.8ARSA, ARSB, CTSD, GALNS, GNS, IDS
5endoplasmic reticulumGO:00057838.2ERP44, LMAN1, NPC1, P4HB, PDIA2, STS
6endoplasmic reticulum lumenGO:00057888.2ARSA, ARSB, ARSH, ERP44, P4HB, PDIA2
7lysosomeGO:00057647.7ARSA, ARSB, CTSD, GALNS, GNS, IDS
8extracellular regionGO:00055767.6ARSA, ARSB, CTSD, ERP44, GALNS, GNS
9extracellular exosomeGO:00700626.9ARSA, ARSB, CTSD, ERP44, GALNS, GNS

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1lysosomal transportGO:000704110.7ARSB, NPC1
2chondroitin sulfate catabolic processGO:003020710.7ARSB, IDS
3keratan sulfate catabolic processGO:004234010.5GALNS, GNS
4response to methylmercuryGO:005159710.3ARSA, ARSB
5regulation of oxidative stress-induced intrinsic apoptotic signaling pathwayGO:190217510.2P4HB, PDIA2
6glycosaminoglycan catabolic processGO:000602710.2GNS, IDS, SGSH
7glycosphingolipid metabolic processGO:000668710.0ARSA, ARSB, ARSH, STS, SUMF1
8autophagyGO:000691410.0ARSA, ARSB, CTSD, NPC1
9response to pHGO:000926810.0ARSA, ARSB
10response to endoplasmic reticulum stressGO:00349769.4ERP44, P4HB, PDIA2
11protein foldingGO:00064579.2ERP44, LMAN1, P4HB, PDIA2
12post-translational protein modificationGO:00436879.1ARSA, ARSB, ARSH, P4HB, STS, SUMF1
13cell redox homeostasisGO:00454549.0ERP44, P4HB, PDIA2, TXN
14neutrophil degranulationGO:00433129.0ARSA, ARSB, CTSD, ERP44, GALNS, GNS
15metabolic processGO:00081528.9ARSA, ARSB, ARSH, GALNS, GNS, IDS

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1arylsulfatase activityGO:000406510.6ARSA, ARSB, ARSH
2N-acetylgalactosamine-4-sulfatase activityGO:000394310.4ARSB, GALNS
3protein disulfide isomerase activityGO:00037569.4ERP44, P4HB, PDIA2
4peptide disulfide oxidoreductase activityGO:00150379.3P4HB, PDIA2, TXN
5hydrolase activityGO:00167878.5ARSA, ARSB, ARSH, CTSD, GALNS, GNS
6sulfuric ester hydrolase activityGO:00084848.2ARSA, ARSB, ARSH, GALNS, GNS, IDS
7metal ion bindingGO:00468727.5ARSA, ARSB, ARSH, GALNS, GNS, IDS

Sources for Multiple Sulfatase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet