Mucolipidosis III alpha/beta

Preferred Label : Mucolipidosis III alpha/beta;

CISMeF acronym : ML IIIA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ml III alpha/beta; Mucolipidosis iiia; Mucolipidosis III; Ml III; Pseudo-hurler polydystrophy; ML IIIA;

Included titles and symbols : Mucolipidosis III alpha/beta, atypical;

Description : Mucolipidosis type III alpha/beta 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. It is phenotypically less severe than the allelic disorder mucolipidosis type II alpha/beta (summary by Paik et al., 2005).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (GNPTAB, 607840.0001);

Laboratory abnormalities : No mucopolysacchariduria; Increased serum beta-hexosaminidase (10-20x); Increased serum iduronate sulfatase (10-20x); Deficiency of N-acetylglucosamine-1-phosphotransferase; Increased serum aryl-sulfatase A (10-20x);

Prefixed ID : #252600;

Details

Origin ID

252600;

UMLS CUI

C0033788;

Automatic exact mappings (from CISMeF team)
- Mucolipidosis III [PASCAL descriptor]
- Mucolipidosis type III alpha/beta [ORDO Disease]
- mucolipidosis III alpha beta, atypical [MeSH concept]
- mucolipidosis III alpha beta, atypical [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Mucolipidosis [PASCAL descriptor]
- Mucolipidosis type 3 [ICD-11 More detail]
- Mucolipidosis type III [MedDRA Preferred Term]
- Mucolipidosis type III [ORDO Disease]
- Pseudo-Hurler polydystrophy (disorder) [SNOMED CT concept]
- mucolipidoses [MeSH Descriptor]
- mucolipidosis III alpha/beta [DO Concept]
- mucolipidosis type 3 A [MeSH Supplementary Concept]
- mucolipidosis type III [Disease (Nov.)]
- pseudo-hurler polydystrophy [SNOMED Notion]
- type III mucolipidosis [MeSH concept]
DO Cross reference
- mucolipidosis III alpha/beta [DO Concept]
Genes related to phenotype
- N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits [OMIM gene]
HPO term(s)
- Aortic regurgitation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad ribs [HPO term]
- Broad short ribs [HPO term]
- Carpal bone hypoplasia [HPO term]
- Coarse facial features [HPO term]
- Constrictive median neuropathy [HPO term]
- Corneal opacity [HPO term]
- Craniosynostosis [HPO term]
- Deficiency of N-acetylglucosamine-1-phosphotransferase [HPO term]
- Dysostosis multiplex [HPO term]
- Hyperopic astigmatism [HPO term]
- Increased serum beta-hexosaminidase [HPO term]
- Intellectual disability [HPO term]
- Irregular carpal bones [HPO term]
- J-shaped sella turcica [HPO term]
- Mandibular prognathia [HPO term]
- Mildly coarse facies [HPO term]
- Mucopolysacchariduria [HPO term]
- Opacification of the corneal stroma [HPO term]
- Retinal degeneration [HPO term]
- Retinopathy [HPO term]
- Scoliosis [HPO term]
- Shallow acetabular fossae [HPO term]
- Short long bone [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Small, irregular carpal bones [HPO term]
- Soft tissue swelling of interphalangeal joints [HPO term]
- Specific learning disability [HPO term]
- Split hand [HPO term]
- Thickened skin [HPO term]
Not associated HPO term(s)
- Mucopolysacchariduria [HPO term]
ORDO concept(s)
- Mucolipidosis type III [ORDO Disease]
- Mucolipidosis type III alpha/beta [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucolipidosis type 3 [ICD-11 More detail]
- Mucolipidosis type III [MedDRA Preferred Term]
- Mucolipidosis type III [ORDO Disease]
- Pseudo-Hurler polydystrophy (disorder) [SNOMED CT concept]
- mucolipidosis III alpha/beta [DO Concept]
- mucolipidosis type III [Disease (Nov.)]
- pseudo-hurler polydystrophy [SNOMED Notion]
- type III mucolipidosis [MeSH concept]
Validated automatic mappings to NTBT
- Mucolipidosis [NCIt concept]

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