Transmembrane protein 199 congenital disorder of glycosylation

disorder

SNOMED 1208738002CUI C4225190

Overview

Transmembrane protein 199 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.

Abnormal protein N-linked glycosylation

Always present (100%)HP:0012347

Alanine aminotransferase increased

Always present (100%)HP:0031964

Copper accumulation in liver

Always present (100%)HP:0025321

Elevated alkaline phosphatase

Always present (100%)HP:0003155

Elevated circulating creatine phosphokinase

Always present (100%)HP:0003236

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Fatty liver

Always present (100%)HP:0001397

Hypoceruloplasminemia

Always present (100%)HP:0010837

Reduced serum copper

Always present (100%)HP:0011967

Subclinical abnormal liver function tests

Always present (100%)HP:0002910

Type II transferrin isoform profile

Always present (100%)HP:0012301

Elevated serum cholesterol

Very frequent (80-99%)HP:0003124

Increased plasma LDL levels

Very frequent (80-99%)HP:0003141

Abnormal protein O-linked glycosylation

Frequent (30-79%)HP:0012358

Enlarged liver

Frequent (30-79%)HP:0002240

Liver fibrosis

Frequent (30-79%)HP:0001395

Central hypotonia

Occasional (5-29%)HP:0001252

Mental and motor retardation

Occasional (5-29%)HP:0001263

Liver dysfunction, mild

HP:0001410

Related Conditions

Hypercholesterolemia(parent)

N-Acetylglucosaminyl transferase II deficiency(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1208738002
UMLS CUI: C4225190
Fully Specified Name: Transmembrane protein 199 congenital disorder of glycosylation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.