Mucopolysaccharidosis Type Iiic malady

NIH Rare Diseases: 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.³⁰

MalaCards: Mucopolysaccharidosis Type Iiic, also known as sanfilippo syndrome c, is related to mucopolysaccharidosis type iiic (sanfilippo c) and mucopolysaccharidosis iii. An important gene associated with Mucopolysaccharidosis Type Iiic is HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase).

mucopolysaccharidosis type iiic 30 16 sanfilippo syndrome c 30 16 mps iiic 30 16 acetyl-coa alpha-glucosaminide n-acetyltransferase deficiency 30

mucopoly-saccharidosis type 3c 30 mps iii c 43 mps 3c 30

Disease types for mucopolysaccharidosis family:

mucopolysaccharidosis vi	mucopolysaccharidosis i
mucopolysaccharidosis vii	mucopolysaccharidosis iv
mucopolysaccharidosis iii	mucopolysaccharidosis ii
mucopolysaccharidosis ih	mucopolysaccharidosis ivb
mucopolysaccharidosis type iiid	mucopolysaccharidosis type ix
mucopolysaccharidosis type iiic	mucopolysaccharidosis type iiib (sanfilippo b)
mucopolysaccharidosis type vi (maroteaux-lamy)	mucopolysaccharidosis type ivb (morquio)
mucopolysaccharidosis type iiic (sanfilippo c)

Diseases related to mucopolysaccharidosis type iiic by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	mucopolysaccharidosis type iiic (sanfilippo c)	8.2
2	mucopolysaccharidosis iii	7.3

Approved drugs:

Drug clinical trials:

Genetic tests related to mucopolysaccharidosis type iiic:

id	Genetic test	Affiliating Genes
1	Mucopolysaccharidosis Type Iiic clinical/research	HGSNAT

Genes related to mucopolysaccharidosis type iiic according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	11.0	Disorders