Immunodeficiency 23

Preferred Label : Immunodeficiency 23;

Symbol : IMD23;

CISMeF acronym : IMD23; IVMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : IVMS; Immunodeficiency with hyper ige and cognitive impairment; Immunodeficiency-vasculitis-myoclonus syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoglucomutase-3 gene (PGM3, 172100.0001);

Laboratory abnormalities : Serum transferrin glycosylation is normal; Hyposialylation of O-linked serum glycans; EBV viremia; Decreased formation of complex (tri-, tetra-antennary) N-glycans; Decreased UDP-GlcNAc;

Prefixed ID : #615816;

Details

Origin ID

615816;

UMLS CUI

C4014371;

Automatic exact mappings (from CISMeF team)
- PGM3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- PGM3-Associated Immunodeficiency [NCIt concept]
- PGM3-CDG [ORDO Disease]
- Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- immunodeficiency 23 [DO Concept]
DO Cross reference
- immunodeficiency 23 [DO Concept]
Genes related to phenotype
- Phosphoglucomutase 3 [OMIM gene]
HPO term(s)
- Abnormal CNS myelination [HPO term]
- Abscess [HPO term]
- Allergic rhinitis [HPO term]
- Aortic root aneurysm [HPO term]
- Asthma [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Conductive hearing impairment [HPO term]
- Cortical myoclonus [HPO term]
- Drug allergy [HPO term]
- Dysarthria [HPO term]
- Eczema [HPO term]
- Eosinophilia [HPO term]
- Erythema [HPO term]
- Esophageal stricture [HPO term]
- Failure to thrive [HPO term]
- Food allergy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemolytic anemia [HPO term]
- High palate [HPO term]
- Hodgkin lymphoma [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgE level [HPO term]
- Increased circulating IgG level [HPO term]
- Increased circulating IgM level [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Lymphopenia [HPO term]
- Membranoproliferative glomerulonephritis [HPO term]
- Molluscum contagiosum [HPO term]
- Myoclonus [HPO term]
- Neutropenia [HPO term]
- Persistent EBV viremia [HPO term]
- Recurrent Staphylococcus aureus infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent staphylococcal infections [HPO term]
- Rheumatoid factor positive [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe varicella zoster infection [HPO term]
- Somatic sensory dysfunction [HPO term]
- Vasculitis in the skin [HPO term]
ORDO concept(s)
- PGM3-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PGM3-Associated Immunodeficiency [NCIt concept]
- Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- immunodeficiency 23 [DO Concept]

Keyword's position in hierarchy(ies) :

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