PGM3-CDG - phosphoglucomutase 3-related congenital disorder of glycosylation

disorder

SNOMED 1187623009CUI C4014371

Overview

PGM3-CDG - phosphoglucomutase 3-related congenital disorder of glycosylation is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Autoimmune disorder

Very frequent (80-99%)HP:0002960

Decreased proportion of CD4-positive T cells

Very frequent (80-99%)HP:0032218

Dermatitis

Very frequent (80-99%)HP:0000964

Predisposition to infections

Very frequent (80-99%)HP:0002719

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

respiratory infections, recurrent

Very frequent (80-99%)HP:0002205

Skin abscess

Very frequent (80-99%)HP:0031292

Skin infections, recurrent

Very frequent (80-99%)HP:0001581

Staphylococcus aureus infections, recurrent

Very frequent (80-99%)HP:0002726

Abnormal CNS myelination

Frequent (30-79%)HP:0011400

Abscess

Frequent (30-79%)HP:0025615

Absolute lymphocyte count decrease

Frequent (30-79%)HP:0001888

Ataxia

Frequent (30-79%)HP:0001251

Baby eczema

Frequent (30-79%)HP:0001047

Chronic middle ear infection

Frequent (30-79%)HP:0000389

Cutaneous vasculitis

Frequent (30-79%)HP:0200029

Dull intelligence

Frequent (30-79%)HP:0001249

High immunoglobulin E

Frequent (30-79%)HP:0003212

Immunoglobulin E-mediated drug allergy

Frequent (30-79%)HP:0410323

Impaired cellular adaptive immune response

Frequent (30-79%)HP:0031402

Increased IgM levels

Frequent (30-79%)HP:0003496

Increased total IgG in blood

Frequent (30-79%)HP:0003237

Infection in blood stream

Frequent (30-79%)HP:0100806

Joint ligamentous laxity

Frequent (30-79%)HP:0001382

Moderate mental retardation

Frequent (30-79%)HP:0002342

Mucocutaneous candidiasis

Frequent (30-79%)HP:0002728

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Persistent EBV viremia

Frequent (30-79%)HP:0020072

Pneumonia, recurrent

Frequent (30-79%)HP:0006532

Psychomotor retardation, moderate

Frequent (30-79%)HP:0011343

Related Conditions

Carbohydrate-deficient glycoprotein syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital immunodeficiency disease(parent)

Hyperimmunoglobulin E syndrome(parent)

Quick Facts

SNOMED CT: 1187623009
UMLS CUI: C4014371
Fully Specified Name: Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.