Congenital disorder of glycosylation type 1b

disorder

SNOMED 1231141008CUI C1865145

Overview

Congenital disorder of glycosylation type 1b 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 circulating enzyme concentration or activity

Always present (100%)HP:0012379

Cirrhosis

Always present (100%)HP:0001394

Cystic kidney disease

Always present (100%)HP:0000107

Fat in feces

Always present (100%)HP:0002570

Peripheral hypotonia

Always present (100%)HP:0001252

Reduced tissue phosphomannose isomerase activity

Always present (100%)HP:6000782

Variable degree of villous atrophy

Always present (100%)HP:0011473

Abnormality of the coagulation cascade

Very frequent (80-99%)HP:0003256

Diarrhea

Very frequent (80-99%)HP:0002014

Enlarged liver

Very frequent (80-99%)HP:0002240

Hypoalbuminaemia

Very frequent (80-99%)HP:0003073

Liver fibrosis

Very frequent (80-99%)HP:0001395

Reduced antithrombin antigen

Very frequent (80-99%)HP:0040246

Abnormal thrombosis

Frequent (30-79%)HP:0001977

Factor XI deficiency

Frequent (30-79%)HP:0001929

Gastrointestinal haemorrhage

Frequent (30-79%)HP:0002239

Hyperinsulinemia hypoglycemia

Frequent (30-79%)HP:0000825

Liver dysfunction

Frequent (30-79%)HP:0001410

Portal hypertension

Frequent (30-79%)HP:0001409

Protein C deficiency

Frequent (30-79%)HP:0005543

Protein-losing enteropathy

Frequent (30-79%)HP:0002243

Reduced protein S activity

Frequent (30-79%)HP:0004855

Selective proximal tubular damage

Frequent (30-79%)HP:0000114

Soft tissue swelling

Frequent (30-79%)HP:0000969

Undergrowth

Frequent (30-79%)HP:0001508

Vomiting

Frequent (30-79%)HP:0002013

Hypothyroidism

Occasional (5-29%)HP:0000821

Antithrombin III deficiency

HP:0001976

Bleeding tendency

HP:0001892

Generalised decreased muscle tone

HP:0001290

Related Conditions

Carbohydrate-deficient glycoprotein syndrome type I(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1231141008
UMLS CUI: C1865145
Fully Specified Name: Mannosephosphate isomerase 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.