Coiled-coil domain containing 115 congenital disorder of glycosylation

disorder

SNOMED 1187174002CUI C4225191

Overview

Coiled-coil domain containing 115 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 glycosylation

Always present (100%)HP:0012345

Elevated alkaline phosphatase of bone origin

Always present (100%)HP:0010639

Elevated serum cholesterol

Always present (100%)HP:0003124

Hypoceruloplasminemia

Always present (100%)HP:0010837

Increased liver function tests

Always present (100%)HP:0002910

Increased plasma LDL levels

Always present (100%)HP:0003141

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Hepatic insufficiency

Frequent (30-79%)HP:0001399

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Elevated circulating creatine phosphokinase

Occasional (5-29%)HP:0003236

Epilepsy

Occasional (5-29%)HP:0001250

Eyelid ptosis

Occasional (5-29%)HP:0000508

Malformation of face

Occasional (5-29%)HP:0001999

Vertical enlargement of face

Occasional (5-29%)HP:0000276

Cholestatic liver disease

HP:0002611

Cirrhosis

HP:0001394

Copper accumulation in liver

HP:0025321

Enlarged liver

HP:0002240

Large spleen

HP:0001744

Muscle wasting

HP:0003202

Prolonged neonatal jaundice

HP:0006579

Related Conditions

N-Acetylglucosaminyl transferase II deficiency(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1187174002
UMLS CUI: C4225191
Fully Specified Name: Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.