Hurler Syndrome
Description
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
Clinical Features
Top most frequent phenotypes and symptoms related to Hurler Syndrome
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
- Hypertelorism
- Micrognathia
- Sensorineural hearing impairment
- Abnormal facial shape
And another 254 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available HURLER SYNDROME have a estimated prevalence of 0.5 per 100k worldwide.— No data available about the known clinical features onset.
Alternative names
Hurler Syndrome Is also known as mpsih, mps1h, mps1-h, mucopolysaccharidosis type 1h, mucopolysaccharidosis type ih, hurler disease.
Researches and researchers
Doctors, researchs, and experts related to Hurler Syndrome extracted from public data.
Hurler Syndrome Experts map
Current Researchs and researchers
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ROSTOCK — Pr Arndt ROLFS
Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department
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Institution/s:
— Albrecht-Kossel-Institute for Neuroregeneration (AKos)
— Albrecht-Kossel-Institute for Neuroregeneration (AKos)
— Centogene AG -
Research area/topic::
Biomarker for Hurler disease (BioHurler): An International, multicentre, epidemiological protocol
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Institution/s:
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MILANO — Dr Alessandra BIFFI
Principal investigator of clinical trial - Investigator of research project
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Institution/s:
— Istituto San Raffaele Telethon per la Terapia Genica - TIGET -
Research area/topic::
Hematopoietic stem cell gene therapy for the treatment of Type I Mucopolysaccharidosis
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Institution/s:
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MONZA — Dr Marta SERAFINI
Investigator of research project
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Institution/s:
— Clinica Pediatrica - Università di Milano Bicocca, Azienda Ospedaliera San Gerardo -
Research area/topic::
Evaluation of stem cells-mediated gene therapy for Hurler's Syndrome
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Institution/s:
Hurler Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
IDUA Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
IDUA
Specificity
100 %
Genes
100 % |
IDUA Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
IDUA
Specificity
100 %
Genes
100 % |
IDUA Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
IDUA
Specificity
100 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
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 % |
GeneAware Complete Panel Version 2 (Male).
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 % |
Non-immune Hydrops Panel.
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 % |
Lysosomal Storage Disease Panel.
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 % |
Hurler syndrome.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
IDUA
Specificity
100 %
Genes
100 % |
You can get up to 71 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4 CHAR SYNDROME; CHAR AGNATHIA-HOLOPROSENCEPHALY-SITUS INVERSUS SYNDROME