Solute carrier family 35 member A1 congenital disorder of glycosylation

disorder

SNOMED 723624008CUI C1970344

Overview

Solute carrier family 35 member A1 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 megakaryocyte morphology

Very frequent (80-99%)HP:0012143

Abnormal platelet granules

Very frequent (80-99%)HP:0011883

Bleeding below the skin

Very frequent (80-99%)HP:0001933

Bleeding tendency

Very frequent (80-99%)HP:0001892

Giant platelets

Very frequent (80-99%)HP:0001902

Hypoxemia

Very frequent (80-99%)HP:0012418

Increased bleeding time

Very frequent (80-99%)HP:0003010

Intrapulmonary hemorrhage

Very frequent (80-99%)HP:0040223

Laboured breathing

Very frequent (80-99%)HP:0002098

Neutropoenia

Very frequent (80-99%)HP:0001875

Pneumonia

Very frequent (80-99%)HP:0002090

Skin infections

Very frequent (80-99%)HP:0100658

Thrombocytopenia

Very frequent (80-99%)HP:0001873

Aminoaciduria

HP:0003355

Aortic valve regurgitation

HP:0001659

Ataxia

HP:0001251

Clinodactyly

HP:0030084

Decreased height of philtrum

HP:0000322

Decreased platelet glycoprotein Ib

HP:0031156

Decreased size of cranium

HP:0000252

Deep set eye

HP:0000490

Difficulty articulating speech

HP:0001260

Encephalopathy

HP:0001298

Epilepsy

HP:0001250

Generalised decreased muscle tone

HP:0001290

Hyporeflexia

HP:0001265

Involuntary, rapid, rhythmic eye movements

HP:0000639

Macrothrombocytopenia

HP:0040185

Mental and motor retardation

HP:0001263

Nonprogressive mental retardation

HP:0001249

Related Conditions

Disorder of pyrimidine metabolism(parent)

Carbohydrate-deficient glycoprotein syndrome(parent)

Quick Facts

SNOMED CT: 723624008
UMLS CUI: C1970344
Fully Specified Name: Solute carrier family 35 member A1 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.