STING-associated vasculopathy with onset in infancy

disorder

SNOMED 711164003CUI C4014722

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absolute lymphocyte count decrease

Always present (100%)HP:0001888

Cutis marmorata

Always present (100%)HP:0000965

Dystrophic nails

Always present (100%)HP:0008404

Elevated C-reactive protein level

Always present (100%)HP:0011227

Elevated sedimentation rate

Always present (100%)HP:0003565

Follicular hyperplasia

Always present (100%)HP:0002729

Increased serum IgA

Always present (100%)HP:0003261

Increased total IgG in blood

Always present (100%)HP:0003237

Livedo reticularis

Always present (100%)HP:0033505

Nailfold capillary tortuosity

Always present (100%)HP:0033250

Paratracheal lymphadenopathy

Always present (100%)HP:0033280

Periungual erythema

Always present (100%)HP:0033425

Postnatal failure to thrive

Always present (100%)HP:0001508

Predisposition to infections

Always present (100%)HP:0002719

Pustulosis

Always present (100%)HP:0033605

Raynaud disease

Always present (100%)HP:0030880

Rheumatoid factor positive

Always present (100%)HP:0002923

Spider veins

Always present (100%)HP:0001009

Antiphospholipid antibodies

Very frequent (80-99%)HP:0003613

Increased platelet count

Very frequent (80-99%)HP:0001894

Leukopenia

Very frequent (80-99%)HP:0001882

Antinuclear antibodies

Frequent (30-79%)HP:0003493

Arthritic pain

Frequent (30-79%)HP:0002829

Cheekbone rash

Frequent (30-79%)HP:0025300

Decreased haemoglobin

Frequent (30-79%)HP:0001903

Hypotrichosis

Frequent (30-79%)HP:0008070

Intermittent fever

Frequent (30-79%)HP:0001954

Muscle degeneration

Frequent (30-79%)HP:0003202

Muscle inflammation

Frequent (30-79%)HP:0100614

Nasal-septum perforation

Frequent (30-79%)HP:0033434

Related Conditions

Autosomal dominant hereditary disorder(parent)

Autoimmune vasculitis(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary disorder of immune system(parent)

Type I interferonopathy(parent)

Quick Facts

SNOMED CT: 711164003
UMLS CUI: C4014722
Fully Specified Name: STING-associated vasculopathy with onset in infancy (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.