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MPS1S
MCID: SCH036
MIFTS: 69
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Scheie Syndrome (MPS1S)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Scheie Syndrome:
Characteristics:Orphanet epidemiological data:59
scheie syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada),<1/1000000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood; Age of death: elderly;
mucopolysaccharidosis type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Germany),1-9/100000 (Portugal),1-9/100000 (Netherlands),1-9/1000000 (Sweden),1-9/100000 (Sweden),1-9/100000 (Norway),1-5/10000 (Norway),1-9/1000000 (Denmark),1-9/100000 (Denmark),1-9/1000000 (Ireland),1-9/100000 (United Kingdom),1-9/1000000 (Tunisia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (Canada),1-9/100000 (Australia),1-9/1000000 (Czech Republic),1-9/1000000 (Europe),1-9/1000000 (Worldwide),1-9/1000000 (Poland); Age of onset: All ages; Age of death: adolescent,late childhood; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
alpha-l-iduronidase activity is <1% for all forms of mps1 mps1 types are distinguished clinically by age of onset and progression or by mutation(s) onset of symptoms after age 5 diagnosis typically between age 10-20 years HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Bone diseases Skin diseases
ICD10:
33
34
Orphanet: 59
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
53
Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition.
MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. Because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe MPS I and attenuated MPS I. People with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition.
MalaCards based summary : Scheie Syndrome, also known as mucopolysaccharidosis type i, is related to hurler syndrome and mucopolysaccharidosis, type vi, and has symptoms including joint stiffness and thick skin. An important gene associated with Scheie Syndrome is IDUA (Iduronidase, Alpha-L-), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and bone marrow, and related phenotypes are macrocephaly and joint dislocation Disease Ontology : 12 A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. Genetics Home Reference : 25 Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. OMIM : 57 The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; 607014), Hurler-Scheie (MPS IH/S; 607015), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972). (607016) UniProtKB/Swiss-Prot : 75 Mucopolysaccharidosis 1S: A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. Wikipedia : 76 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...
GeneReviews:
NBK1162
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:607016Human phenotypes related to Scheie Syndrome:59 32 (show top 50) (show all 80)
UMLS symptoms related to Scheie Syndrome:joint stiffness, thick skin GenomeRNAi Phenotypes related to Scheie Syndrome according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Scheie Syndrome:46 (show all 12)
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Drugs for Scheie Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:(show all 19)
Inferred drug relations via UMLS 73 / NDF-RT 51 :Cell-based therapeutics:
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Scheie Syndrome cell therapies
at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Scheie Syndrome:
Embryonic/Adult Cultured Cells Related to Scheie Syndrome:
Cochrane evidence based reviews: mucopolysaccharidosis i |
Genetic tests related to Scheie Syndrome:
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MalaCards organs/tissues related to Scheie Syndrome:41
Bone,
Bone Marrow,
Skin,
Heart,
Brain,
Eye,
Lung
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Scheie Syndrome:
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Articles related to Scheie Syndrome:(show top 50) (show all 125)
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Genes related to Scheie Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Scheie Syndrome:75 (show all 14)
ClinVar genetic disease variations for Scheie Syndrome:6 (show top 50) (show all 157)
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Search
GEO
for disease gene expression data for Scheie Syndrome.
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Pathways related to Scheie Syndrome according to KEGG:37
Pathways related to Scheie Syndrome according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Scheie Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Scheie Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Scheie Syndrome according to GeneCards Suite gene sharing:
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