Mucopolysaccharidosis Type Iiic malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Oral diseases, Skin diseases
Aliases & Descriptions for Mucopolysaccharidosis Type Iiic:
Orphanet epidemiological data:53
mucopolysaccharidosis type iiic:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Netherlands),1-9/1000000 (Portugal),<1/1000000 (Australia),1-9/1000000 (Czech Republic),1-9/100000 (Europe),1-9/1000000 (Sweden); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases, Oral diseases, Skin diseases
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Mucopolysaccharidosis type IIIC (MPS IIIC) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including 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 IIIC results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase. This condition is inherited in an autosomal recessive manner. There is no specific treatment. Most people with MPS IIIC live into their teenage years; some live longer. Last updated: 4/14/2010
MalaCards based summary: Mucopolysaccharidosis Type Iiic, also known as sanfilippo syndrome type c, is related to mucopolysaccharidosis iii and mucopolysaccharidosis, and has symptoms including everted lower lip vermilion, dense calvaria and dolichocephaly. An important gene associated with Mucopolysaccharidosis Type Iiic is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase). Affiliated tissues include eye, bone and skin.
OMIM:51 Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan... (252930) more...
UniProtKB/Swiss-Prot:69 Mucopolysaccharidosis 3C: A 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.
Diseases in the Mucopolysaccharidosis family:
Diseases related to Mucopolysaccharidosis Type Iiic via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Mucopolysaccharidosis Type Iiic:63 (show all 31)
UMLS symptoms related to Mucopolysaccharidosis Type Iiic:diarrhea, seizures, joint stiffness
MalaCards organs/tissues related to Mucopolysaccharidosis Type Iiic:35
Eye, Bone, Skin
Articles related to Mucopolysaccharidosis Type Iiic:
Search GEO for disease gene expression data for Mucopolysaccharidosis Type Iiic.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet