Asparagine-linked glycosylation 8 congenital disorder of glycosylation

disorder

SNOMED 720977000CUI C2931002

Overview

Asparagine-linked glycosylation 8 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.

Decreased circulating T4 concentration

Always present (100%)HP:0031507

Enlarged liver

Always present (100%)HP:0002240

Hypoalbuminaemia

Always present (100%)HP:0003073

Increased creatinine

Always present (100%)HP:0003259

Protein-losing enteropathy

Always present (100%)HP:0002243

Abnormality of the nervous system

Very frequent (80-99%)HP:0000707

Distortion of face

Very frequent (80-99%)HP:0001999

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Abdominal swelling

Frequent (30-79%)HP:0003270

Abnormality of skin morphology

Frequent (30-79%)HP:0011121

Abnormality of the coagulation cascade

Frequent (30-79%)HP:0003256

Ascites

Frequent (30-79%)HP:0001541

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased fetal movement

Frequent (30-79%)HP:0001558

Digestive system disease

Frequent (30-79%)HP:0011024

Elevated liver enzymes

Frequent (30-79%)HP:0002910

Epilepsy

Frequent (30-79%)HP:0001250

Eye disease

Frequent (30-79%)HP:0000478

Hydrops fetalis

Frequent (30-79%)HP:0001789

Hyponatremia

Frequent (30-79%)HP:0002902

Hypothyroidism

Frequent (30-79%)HP:0000821

Increased length of philtrum

Frequent (30-79%)HP:0000343

Lens opacities

Frequent (30-79%)HP:0000518

Liver dysfunction, mild

Frequent (30-79%)HP:0001410

Mental and motor retardation

Frequent (30-79%)HP:0001263

PDA

Frequent (30-79%)HP:0001643

Perimembraneous ventricular septal defect

Frequent (30-79%)HP:0011682

Premature birth

Frequent (30-79%)HP:0001622

Short neck

Frequent (30-79%)HP:0000470

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Quick Facts

SNOMED CT: 720977000
UMLS CUI: C2931002
Fully Specified Name: Asparagine-linked glycosylation 8 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.