Mucopolysaccharidosis, type iiia

Preferred Label : Mucopolysaccharidosis, type iiia;

Symbol : MPS3A;

CISMeF acronym : MPS3A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sanfilippo syndrome a; Heparan sulfate sulfatase deficiency; Sulfamidase deficiency; Mps iiia;

Description : 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. - Genetic Heterogeneity of Mucopolysaccharidosis Type III MPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; 252920); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; 252930); and N-acetylglucosamine 6-sulfatase (type D; 252940).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the heparan sulfate sulfatase gene (SGSH, 605270.0001);

Laboratory abnormalities : Heparan N-sulfatase deficiency in fibroblasts and amniocytes; Heparan sulfate excretion in urine;

Prefixed ID : #252900;

Details

Origin ID

252900;

UMLS CUI

C0086647;

Automatic exact mappings (from CISMeF team)
- N-sulfoglucosamine sulfohydrolase [ORDO Gene]
- N-sulfoglucosamine sulfohydrolase [HGNC gene]
Broader ORDO disease(s)
- Mucopolysaccharidosis type 3 [ORDO Disease]
Currated CISMeF NLP mapping
- MPS III A [MeSH concept]
- Mucopolysaccharidosis III [MedDRA Preferred Term]
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIA [NCIt concept]
- Mucopolysaccharidosis type 3A [ICD-11 More detail]
- Sanfilippo syndrome (disorder) [SNOMED CT concept]
- Sanfilippo syndrome type A [ORDO Disease]
- Sanfilippo's syndrome [MedDRA LLT]
- mucopolysaccharidosis III [DO Concept]
- mucopolysaccharidosis iii [MeSH Descriptor]
- mucopolysaccharidosis type IIIA [DO Concept]
- mucopolysaccharidosis type IIIa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-a [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis type IIIA [DO Concept]
Genes related to phenotype
- N-sulfoglucosamine sulfohydrolase [OMIM gene]
HPO term(s)
- Asymmetric septal hypertrophy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Coarse facial features [HPO term]
- Coarse hair [HPO term]
- Dense calvaria [HPO term]
- Diarrhea [HPO term]
- Dysostosis multiplex [HPO term]
- Frequent upper respiratory tract infections [HPO term]
- Global developmental delay [HPO term]
- Growth abnormality [HPO term]
- Hearing impairment [HPO term]
- Heparan sulfate excretion in urine [HPO term]
- Hepatomegaly [HPO term]
- Hirsutism [HPO term]
- Hyperactivity [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint stiffness [HPO term]
- Mild hepatomegaly [HPO term]
- Mild joint stiffness [HPO term]
- Mild splenomegaly [HPO term]
- Mildly coarse facies [HPO term]
- Ovoid thoracolumbar vertebrae [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Splenomegaly [HPO term]
- Synophrys [HPO term]
- Thickened ribs [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Sanfilippo syndrome type A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MPS III A [MeSH concept]
- Mucopolysaccharidosis III-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIA [NCIt concept]
- Mucopolysaccharidosis type 3A [ICD-11 More detail]
- Sanfilippo syndrome type A [ORDO Disease]
- mucopolysaccharidosis type IIIA [DO Concept]
- mucopolysaccharidosis type IIIa [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-a [SNOMED Notion]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Mucopolysaccharidosis type 3 [ICD-11 More detail]
- Sanfilippo Syndrome [NCIt concept]
- Sanfilippo syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients