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MCID: MCP043
MIFTS: 52
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Mucopolysaccharidosis, Type Iiia
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Skin diseases, Respiratory diseases, Blood diseases
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MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiia:
Characteristics:Orphanet epidemiological data:59
sanfilippo syndrome type a
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Worldwide),1-9/1000000 (Sweden); OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
four clinically indistinguishable biochemically distinct forms HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Bone diseases Skin diseases Respiratory diseases Blood diseases
ICD10:
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 type IIIA (MPS IIIA) is a severe, progressive disorder that affects the central nervous system. In people with MPS IIIA, the body cannot break down a large sugar molecule called heparin sulfate. Signs and symptoms usually begin in early childhood and include severe neurological symptoms such as progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIA is caused by mutations in the SGSH gene and is inherited in an autosomal recessive manner. There is currently no specific treatment for MPS IIIA; affected people usually do not survive past the second decade of life.
MalaCards based summary : Mucopolysaccharidosis, Type Iiia, also known as mucopolysaccharidosis type iiia, is related to mucopolysaccharidosis iii and heparane sulfamidase deficiency, and has symptoms including diarrhea, seizures and joint stiffness. An important gene associated with Mucopolysaccharidosis, Type Iiia is SGSH (N-Sulfoglucosamine Sulfohydrolase), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Lysosome. The drugs alemtuzumab and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver, and related phenotypes are dense calvaria and coarse facial features OMIM : 57 The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. (252900) UniProtKB/Swiss-Prot : 75 Mucopolysaccharidosis 3A: A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival. Wikipedia : 76 Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:252900Human phenotypes related to Mucopolysaccharidosis, Type Iiia:32 (show all 21)
UMLS symptoms related to Mucopolysaccharidosis, Type Iiia:diarrhea, seizures, joint stiffness |
Drugs for Mucopolysaccharidosis, Type Iiia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 22)
Interventional clinical trials:(show all 20)
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MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiia:41
Eye,
Bone,
Liver,
Brain,
Cerebellum
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Articles related to Mucopolysaccharidosis, Type Iiia:(show all 32)
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Genes related to Mucopolysaccharidosis, Type Iiia (2 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Iiia:75 (show top 50) (show all 56)
ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiia:6
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Search
GEO
for disease gene expression data for Mucopolysaccharidosis, Type Iiia.
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Cellular components related to Mucopolysaccharidosis, Type Iiia according to GeneCards Suite gene sharing:
Biological processes related to Mucopolysaccharidosis, Type Iiia according to GeneCards Suite gene sharing:
Molecular functions related to Mucopolysaccharidosis, Type Iiia according to GeneCards Suite gene sharing:
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