Scheie Syndrome

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OMIM 57 607016 Disease Ontology 12 DOID:0060222 DOID:12802 ICD10 33 E76.0 MeSH 44 D008059 NCIt 50 C85053 SNOMED-CT 68 190938004 267453008 75610003 Orphanet 59 ORPHA579 ORPHA93474

MESH via Orphanet 45 D008059 ICD10 via Orphanet 34 E76.0 UMLS via Orphanet 74 C0023786 C2713321 MedGen 42 C0026708 KEGG 37 H00128 SNOMED-CT via HPO 69 258211005 396232000 40159009 441787004 441798003 54711002 230745008 36971009 7393007 72239002 109504005 22810007 21186006 60700002 249321001 95427009 29555009 23986001 246635007 397540003 7973008 95695004 76976005 32337007 254069004 65327002 299034005 228156007 247578003 91138005 108367008 87642003 84445001 42343007 84114007 233873004 45227007 448743001 60573004 60234000 16294009 205091006 1023001 248583008 80515008 312444006 609225004 111266001 64217002 57676002 299330008 78275009 91019004 237836003 413921009 64634000 95735008 240196003 398199007 72756009 70076002 263731006 272039006 49727002 128188000 more UMLS 73 C0023786 C0026708 C0086795 C0086431 C2713321 more

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 Antibodies and Immunoglobulins 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

Clinical features from OMIM:

607016

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability in esophageal squamous lineage	GR00235-A	9.1	CTSA GALNS GLA HEXA IDUA UBR5

Search NIH Clinical Center for Scheie Syndrome

laronidase

Search GEO for disease gene expression data for Scheie Syndrome.