Mucolipidosis II alpha/beta

Preferred Label : Mucolipidosis II alpha/beta;

CISMeF acronym : ICD; ML II;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ml II alpha/beta; I-cell disease; ML II; Mucolipidosis II; ICD;

Description : Mucolipidosis type II 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 more severe than the allelic disorder mucolipidosis type III 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, 607840.0003);

Laboratory abnormalities : Normal to mildly increased mucopolysacchariduria; Increased serum beta-hexosaminidase (10-20x); Increased serum iduronate sulfatase (10-20x); Increased serum arylsulfatase A (10-20x); Deficiency of N-acetylglucosamine-1-phosphotransferase; Inclusion bodies (membrane-bound vacuoles) in fibroblasts;

Prefixed ID : #252500;

Details

Origin ID

252500;

UMLS CUI

C2673377;

Automatic exact mappings (from CISMeF team)
- Between Lunch and Dinner [NCIt concept]
- Cardiac failure right [MedDRA LLT]
- Clostridium difficile infection [MedDRA Preferred Term]
- Implantable Cardioverter-Defibrillator [NCIt concept]
- Implantable Cardioverter-Defibrillator Placement [NCIt concept]
- Impulse-Control Disorder [NCIt concept]
- Insertion of pleural tube drain (procedure) [SNOMED CT concept]
- International Classification of Diseases [NCIt concept]
- Mucolipidosis III [PASCAL descriptor]
- Presence of cardioverter-defibrillator [ICD-11 Sub-sub category]
- heart failure, Right-Sided [MeSH concept]
- heart failure, diastolic [MeSH Descriptor]
- international classification of diseases [MeSH Descriptor]
- international classification of diseases [Artificial nutrition thesaurus concept]
- mucolipidosis II alpha beta [MeSH concept]
- mutalipocin II [MeSH concept]
- mutalipocin II [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- I-Cell Disease [NCIt concept]
- I-cell disease (disorder) [SNOMED CT concept]
- Mucolipidosis [PASCAL descriptor]
- Mucolipidosis 2 [MeSH concept]
- Mucolipidosis type 2 [ICD-11 More detail]
- Mucolipidosis type II [MedDRA Preferred Term]
- Mucolipidosis type II [ORDO Disease]
- i-cell disease [SNOMED Notion]
- mucolipidoses [MeSH Descriptor]
- mucolipidosis 2 [MeSH Supplementary Concept]
- mucolipidosis II alpha/beta [DO Concept]
- mucolipidosis type II [Disease (Nov.)]
- type II mucolipidosis [MeSH concept]
DO Cross reference
- mucolipidosis II alpha/beta [DO Concept]
Genes related to phenotype
- N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Anteverted nares [HPO term]
- Aortic regurgitation [HPO term]
- Atlantoaxial dislocation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beaking of vertebral bodies T12-L3 [HPO term]
- Bullet-shaped phalanges of the hand [HPO term]
- Cardiomegaly [HPO term]
- Carpal bone hypoplasia [HPO term]
- Cavernous hemangioma [HPO term]
- Coarse facial features [HPO term]
- Congestive heart failure [HPO term]
- Corneal opacities on slit-lamp exam [HPO term]
- Death in childhood [HPO term]
- Deficiency of N-acetylglucosamine-1-phosphotransferase [HPO term]
- Depressed nasal bridge [HPO term]
- Diastasis recti [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Flared iliac wing [HPO term]
- Flat acetabular roof [HPO term]
- Global developmental delay [HPO term]
- Heart murmur [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- Hip dislocation [HPO term]
- Hoarse voice [HPO term]
- Horizontal acetabular roof [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Hypoplastic scapulae [HPO term]
- Increased corneal diameter [HPO term]
- Increased serum beta-hexosaminidase [HPO term]
- Inguinal hernia [HPO term]
- Large sella turcica [HPO term]
- Long philtrum [HPO term]
- Low nasal bridge [HPO term]
- Lower thoracic interpediculate narrowness [HPO term]
- Macroglossia [HPO term]
- Megalocornea [HPO term]
- Metaphyseal widening [HPO term]
- Minimal splenomegaly [HPO term]
- Mucopolysacchariduria [HPO term]
- Mucopolysacchariduria [HPO term]
- Myelopathy [HPO term]
- Narrow forehead [HPO term]
- Neonatal hypotonia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Osteopenia [HPO term]
- Ovoid vertebral bodies [HPO term]
- Palpebral edema [HPO term]
- Pathologic fracture [HPO term]
- Progressive alveolar ridge hypertropy [HPO term]
- Progressive failure to thrive [HPO term]
- Protuberant abdomen [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Severe global developmental delay [HPO term]
- Severe growth retardation [HPO term]
- Severe postnatal growth retardation [HPO term]
- Short long bone [HPO term]
- Sparse and thin eyebrow [HPO term]
- Splenomegaly [HPO term]
- Split hand [HPO term]
- Talipes equinovarus [HPO term]
- Thickened calvaria [HPO term]
- Thin eyebrows [HPO term]
- Thoracolumbar kyphoscoliosis [HPO term]
- Umbilical hernia [HPO term]
- Varus deformity of humeral neck [HPO term]
- Wide intermamillary distance [HPO term]
- high, narrow forehead [HPO term]
ORDO concept(s)
- Mucolipidosis type II [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mucolipidosis II alpha beta [MeSH Supplementary Concept]
- mucolipidosis II alpha beta [MeSH concept]
Validated automatic mappings to BTNT
- mucolipidosis II alpha beta [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Mucolipidosis [NCIt concept]
- mucolipidosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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