PGM1-related congenital disorder of glycosylation

disorder

SNOMED 783717008CUI C2752015

Overview

PGM1-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.

Alanine aminotransferase increased

Always present (100%)HP:0031964

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Elevated serum transaminases

Always present (100%)HP:0002910

Growth failure

Always present (100%)HP:0001510

Low blood sugar

Always present (100%)HP:0001943

Cerebral thrombosis

Frequent (30-79%)HP:0005305

Chronic hepatitis

Frequent (30-79%)HP:0200123

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased body height

Frequent (30-79%)HP:0004322

Decreased serum insulin-like growth factor 1

Frequent (30-79%)HP:0030353

Difficulty breathing

Frequent (30-79%)HP:0002094

Elevated heart rate

Frequent (30-79%)HP:0001649

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Fatty liver

Frequent (30-79%)HP:0001397

Low factor II activity

Frequent (30-79%)HP:0008151

Pierre-Robin sequence

Frequent (30-79%)HP:0000201

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Prolonged activated partial thromboplastin time

Frequent (30-79%)HP:0003645

Stretched and thinned heart muscle

Frequent (30-79%)HP:0001644

Uvula bifida

Frequent (30-79%)HP:0000193

Antithrombin III deficiency

Occasional (5-29%)HP:0001976

Aortic coarctation

Occasional (5-29%)HP:0001680

Breakdown of skeletal muscle

Occasional (5-29%)HP:0003201

Chronic diarrhoea

Occasional (5-29%)HP:0002028

Delayed puberty

Occasional (5-29%)HP:0000823

Enlarged liver

Occasional (5-29%)HP:0002240

Grey sclerae

Occasional (5-29%)HP:0000592

Hepatitis

Occasional (5-29%)HP:0012115

Hydronephrosis

Occasional (5-29%)HP:0000126

Hypoplastic mandible condyle

Occasional (5-29%)HP:0000347

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 783717008
UMLS CUI: C2752015
Fully Specified Name: Phosphoglucomutase 1-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.