Multiple Sulfatase Deficiency
Description
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.
Clinical Features
Top most frequent phenotypes and symptoms related to Multiple Sulfatase Deficiency
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
- Abnormal facial shape
And another 58 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Multiple Sulfatase Deficiency Is also known as sulfatidosis, juvenile, austin type, mucosulfatidosis, juvenile sulfatidosis, austin type, msd.
Researches and researchers
Doctors, researchs, and experts related to Multiple Sulfatase Deficiency extracted from public data.
Multiple Sulfatase Deficiency Experts map
Current Researchs and researchers
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Coordinator of research networkLYON — Dr Marie-Thérèse VANIER
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Institution/s:
— INSERM U 820, Faculté de médecine - RTH Laënnec -
Research area/topic::
Réseau sur les maladies de surcharge lysosomales
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Institution/s:
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Investigator of research projectMILANO — Dr Roberto SITIA
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Institution/s:
— Dipartimento di Biotecnologie, IRCCS Ospedale San Raffaele -
Research area/topic::
Proteostasis in the early secretory compartment as a pathogenetic mechanism and therapeutic target
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Institution/s:
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Investigator of research projectNAPOLI — Dr Andrea BALLABIO
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Institution/s:
— TIGEM - Telethon Institute of Genetics and Medicine -
Research area/topic::
Sulfatases and human diseases: insight from multiple sulfatase deficiency
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Institution/s:
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Investigator of research projectNAPOLI — Dr Maria Pia COSMA
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Institution/s:
— TIGEM - Telethon Institute of Genetics and Medicine -
Research area/topic::
Characterization of the mammalian sulfatase modification system
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Institution/s:
Multiple Sulfatase Deficiency Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)
View the complete list with 19 more genes
Specificity
3 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, FAH, FANCC, FKTN , (...)
View the complete list with 17 more genes
Specificity
3 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)
View the complete list with 54 more genes
Specificity
2 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
![]() By Institute for Human Genetics University Clinic Freiburg (Germany).
SUMF1
Specificity
100 %
Genes
100 % |
You can get up to 50 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SECKEL SYNDROME FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4 HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME