Mucolipidosis III gamma

Preferred Label : Mucolipidosis III gamma;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mucolipidosis III, Complementation group C; Mucolipidosis III, iranian variant form; Ml iiic; Mucolipidosis iiic; Ml III gamma; Mucolipidosis III, variant form;

Description : Mucolipidosis type III gamma is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates (summary by Raas-Rothschild et al., 2000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, gamma subunit gene (GNPTG, 607838.0001);

Laboratory abnormalities : No mucopolysacchariduria; Decreased fibroblast arylsulfatase A; Increased serum beta-hexosaminidase; Increased serum alpha-mannosidase; Increased serum iduronate sulfatase; Increased serum arylsulfatase A.; Decreased fibroblast beta-hexosaminidase; Decreased fibroblast alpha-mannosidase; Decreased fibroblast iduronate sulfatase; Decreased N-acetylglucosamine-1-phosphotransferase (GlcNAc - phosphotransferase) using lysosomal enzymes; Normal-to-slightly decreased GlcNAc phosphotransferase using artificial substrate (e.g., alpha-methylmannoside);

Prefixed ID : #252605;

Details

Origin ID

252605;

UMLS CUI

C1854896;

Automatic exact mappings (from CISMeF team)
- Mucolipidosis type III [ORDO Disease]
Currated CISMeF NLP mapping
- Mucolipidosis Type III Gamma [NCIt concept]
- Mucolipidosis type III gamma [ORDO Disease]
- mucolipidosis III gamma [DO Concept]
- mucolipidosis III gamma [MeSH concept]
- mucolipidosis III gamma [MeSH Supplementary Concept]
DO Cross reference
- mucolipidosis III gamma [DO Concept]
Genes related to phenotype
- N-acetylglucosamine-1-phosphotransferase, gamma subunit [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Abnormality of the hand [HPO term]
- Aortic regurgitation [HPO term]
- Aortic valve stenosis [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Claw hand deformity [HPO term]
- Coarse facial features [HPO term]
- Corneal opacity [HPO term]
- Dysostosis multiplex [HPO term]
- Finger joint contracture [HPO term]
- Flared iliac wing [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Genu valgum [HPO term]
- Hyperlordosis [HPO term]
- Increased iduronate sulfatase level [HPO term]
- Increased serum beta-hexosaminidase [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Joint stiffness [HPO term]
- Juvenile onset [HPO term]
- Kyphosis [HPO term]
- Mucopolysacchariduria [HPO term]
- Mucopolysacchariduria [HPO term]
- Myopia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Shoulder contracture [HPO term]
ORDO concept(s)
- Mucolipidosis type III [ORDO Disease]
- Mucolipidosis type III gamma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucolipidosis Type III Gamma [NCIt concept]
- Mucolipidosis type III gamma [ORDO Disease]
- mucolipidosis III gamma [MeSH Supplementary Concept]
- mucolipidosis III gamma [MeSH concept]

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