Mucopolysaccharidosis-Plus Syndrome

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OMIM 57 617303 Disease Ontology 12 DOID:12798 ICD10 33 E76.3 ICD9CM 35 277.5 MeSH 44 D009083 NCIt 50 C61259

SNOMED-CT 68 11380006 190936000 190942001 267452003 more Orphanet 59 ORPHA505248 MedGen 42 C4310627 CN239958 KEGG 37 H00421 SNOMED-CT via HPO 69 258211005 29738008 236403004 25821008 25273001 249321001 95427009 246803005 76976005 253207002 391987005 205101001 254069004 65327002 399939002 224958001 203598005 385522000 55033002 57048009 7890003 88565003 233873004 45227007 83330001 16294009 229844004 302215000 415116008 165397008 271737000 230145002 267036007 271825005 48610005 80515008 17944005 278849000 418143002 52522001 135810007 more UMLS 73 C0026703

NIH Rare Diseases : ⁵³ Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal dominant manner, although one specific form (Type II) follows an X-linked pattern of inheritance. Treatment is based on the signs and symptoms present in each person. For more specific information about the various forms of mucopolysaccharidosis, please click on the links below:Mucopolysaccharidosis, Type IMucopolysaccharidosis, Type IIMucopolysaccharidosis, Type IIIMucopolysaccharidosis, Type IVMucopolysaccharidosis, Type VIMucopolysaccharidosis, Type VIIMucopolysaccharidosis, Type IX

MalaCards based summary : Mucopolysaccharidosis-Plus Syndrome, also known as mucopolysaccharidosis, is related to mucopolysaccharidosis, type iva and mucopolysaccharidosis, type ii. An important gene associated with Mucopolysaccharidosis-Plus Syndrome is VPS33A (VPS33A, CORVET/HOPS Core Subunit), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. Affiliated tissues include bone, skin and heart, and related phenotypes are tubular atrophy and proteinuria

OMIM : ⁵⁷ MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017). (617303)

UniProtKB/Swiss-Prot : ⁷⁵ Mucopolysaccharidosis-plus syndrome: A form of mucopolysaccharidosis, a group of diseases characterized by excessive accumulation and secretion of oligomucopoloysaccharides. MPSPS is a multisystemic disorder characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, mental retardation, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure. MPSPS inheritance is autosomal recessive.

Disease Ontology : ¹² A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

Wikipedia : ⁷⁶ Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Clinical features from OMIM:

617303

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.7	ARSB
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-110	9.7	ARSB
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.7	IDS
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.7	GALNS
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-122	9.7	ARSB
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-126	9.7	IDS ARSB
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	9.7	GALNS
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.7	GALNS
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-183	9.7	GALNS
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-195	9.7	IDS
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-199	9.7	GALNS
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.7	GALNS
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-41	9.7	IDS
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.7	ARSB
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.7	ARSB IDS
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.7	IDS
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	9.7	GALNS
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	9.7	GALNS
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-83	9.7	ARSB GALNS IDS
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-9	9.7	IDS

Search Clinical Trials , NIH Clinical Center for Mucopolysaccharidosis-Plus Syndrome

Search GEO for disease gene expression data for Mucopolysaccharidosis-Plus Syndrome.