Mucopolysaccharidosis, type iiid

Preferred Label : Mucopolysaccharidosis, type iiid;

Symbol : MPS3D;

CISMeF acronym : MPS3D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : N-acetylglucosamine-6-sulfatase deficiency; Mps iiid; Sanfilippo syndrome D;

Description : The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acetylglucosamine-6-sulfatase gene (GNS, 607664.0001);

Laboratory abnormalities : N-acetylglucosamine-6-sulfate sulfatase deficiency; Heparan sulfate excretion in urine; Metachromasia of white blood cells and fibroblasts;

Prefixed ID : #252940;

Details

Origin ID

252940;

UMLS CUI

C0086650;

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 D [MeSH concept]
- Mucopolysaccharidosis III-D (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIID [NCIt concept]
- Mucopolysaccharidosis type 3D [ICD-11 More detail]
- Sanfilippo syndrome type D [ORDO Disease]
- mucopolysaccharidosis type IIID [DO Concept]
- mucopolysaccharidosis type IIId [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-d [SNOMED Notion]
DO Cross reference
- mucopolysaccharidosis III [DO Concept]
- mucopolysaccharidosis type IIID [DO Concept]
Genes related to phenotype
- N-acetylglucosamine-6-sulfatase [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Achilles tendon contracture [HPO term]
- Aggressive behavior [HPO term]
- Agitation [HPO term]
- Anteverted nares [HPO term]
- Asymmetric septal hypertrophy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brisk reflexes [HPO term]
- Broad alveolar ridges [HPO term]
- Broad palm [HPO term]
- Cellular metachromasia [HPO term]
- Cerebellar atrophy [HPO term]
- Childhood onset [HPO term]
- Coarse facial features [HPO term]
- Coarse hair [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Diarrhea [HPO term]
- Difficulty walking [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dysostosis multiplex [HPO term]
- Dysphagia [HPO term]
- Elbow flexion contracture [HPO term]
- Epiphyseal dysplasia [HPO term]
- Facial hirsutism [HPO term]
- Flattened nasal bridge [HPO term]
- Frequent upper respiratory tract infections [HPO term]
- Frontal bossing [HPO term]
- Full lips [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]
- Hip dysplasia [HPO term]
- Hirsutism [HPO term]
- Hyperactivity [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint stiffness [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Mild hepatomegaly [HPO term]
- Mild joint stiffness [HPO term]
- Mild splenomegaly [HPO term]
- Mildly coarse facies [HPO term]
- Mitral regurgitation [HPO term]
- Nyctalopia [HPO term]
- Oppositional defiant disorder [HPO term]
- Ovoid thoracolumbar vertebrae [HPO term]
- Pes cavus [HPO term]
- Pilonidal sinus [HPO term]
- Progressive [HPO term]
- Prominent forehead [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Restlessness [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sleep disturbance [HPO term]
- Sleep onset insomnia [HPO term]
- Sleep-wake inversion [HPO term]
- Splenomegaly [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick vermilion border [HPO term]
- Thickened ribs [HPO term]
- Thoracic scoliosis [HPO term]
- Tube feeding [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Sanfilippo syndrome type D [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MPS III D [MeSH concept]
- Mucopolysaccharidosis III-D (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IIID [NCIt concept]
- Mucopolysaccharidosis type 3D [ICD-11 More detail]
- Sanfilippo syndrome type D [ORDO Disease]
- mucopolysaccharidosis type IIID [DO Concept]
- mucopolysaccharidosis type IIId [Disease (Nov.)]
- mucopolysaccharidosis, mps-iii-d [SNOMED Notion]
Validated automatic mappings to NTBT
- Mucopolysaccharidosis type 3 [ORDO Disease]
- Sanfilippo Syndrome [NCIt concept]
- mucopolysaccharidosis iii [MeSH Descriptor]

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