Mucopolysaccharidosis, type iiib

Preferred Label : Mucopolysaccharidosis, type iiib;

Symbol : MPS3B;

CISMeF acronym : MPS3B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Naglu deficiency; Mps iiib; Sanfilippo syndrome b; N-acetyl-alpha-D-glucosaminidase deficiency;

Description : Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005). For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (252900).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acetyl-alpha-D-glucosaminidase gene (NAGLU, 609701.0001);

Laboratory abnormalities : N-acetyl-alpha-D-glucosaminidase deficiency in fibroblasts; Heparan sulfate excretion in urine;

Prefixed ID : #252920;

Details

Origin ID

252920;

UMLS CUI

C0086648;

Automatic exact mappings (from CISMeF team)
- mucopolysaccharidosis iii [MeSH Descriptor]
Broader ORDO disease(s)
- Mucopolysaccharidosis type 3 [ORDO Disease]
Currated CISMeF NLP mapping
- MPS III B [MeSH concept]
- Mucopolysaccharidosis III-B (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIB [NCIt concept]
- Mucopolysaccharidosis type 3B [ICD-11 More detail]
- Sanfilippo syndrome type B [ORDO Disease]
- mucopolysaccharidosis type IIIB [DO Concept]
- mucopolysaccharidosis type IIIb [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-b [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis type IIIB [DO Concept]
Genes related to phenotype
- N-acetylglucosaminidase, alpha- [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Asymmetric septal hypertrophy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [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]
- Hearing impairment [HPO term]
- Heparan sulfate excretion in urine [HPO term]
- Hepatomegaly [HPO term]
- Hirsutism [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Joint stiffness [HPO term]
- Juvenile onset [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]
- Progressive neurologic deterioration [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Splenomegaly [HPO term]
- Synophrys [HPO term]
- Thickened ribs [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Sanfilippo syndrome type B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MPS III B [MeSH concept]
- Mucopolysaccharidosis III-B (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIIB [NCIt concept]
- Mucopolysaccharidosis type 3B [ICD-11 More detail]
- Sanfilippo syndrome type B [ORDO Disease]
- mucopolysaccharidosis type IIIB [DO Concept]
- mucopolysaccharidosis type IIIb [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-b [SNOMED Notion]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Sanfilippo Syndrome [NCIt concept]
- mucopolysaccharidosis iii [MeSH Descriptor]

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