STAT3-related early-onset multisystem autoimmune disease

disorder

SNOMED 1197362009CUI C4014795

Overview

STAT3-related early-onset multisystem autoimmune disease 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.

Autoimmune haemolytic anemia

Very frequent (80-99%)HP:0001890

Type I diabetes mellitus

Very frequent (80-99%)HP:0100651

Abnormality of the intestine

Frequent (30-79%)HP:0002242

Coeliac disease

Frequent (30-79%)HP:0002608

Decreased body height

Frequent (30-79%)HP:0004322

Decreased serum immunoglobulin

Frequent (30-79%)HP:0004313

Dental anomalies

Frequent (30-79%)HP:0000164

Eczema

Frequent (30-79%)HP:0000964

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Immune thrombocytopenia

Frequent (30-79%)HP:0001973

Neutropenia in presence of anti-neutropil antibodies

Frequent (30-79%)HP:0001904

Pancreatic insufficiency

Frequent (30-79%)HP:0001738

Achalasia

Occasional (5-29%)HP:0002571

Chronic lung infections

Occasional (5-29%)HP:0002783

Delayed puberty

Occasional (5-29%)HP:0000823

Desquamative interstitial pneumonitis

Occasional (5-29%)HP:0005942

Hodgkin's lymphoma

Occasional (5-29%)HP:0012189

Hypothyroidism

Occasional (5-29%)HP:0000821

Interstitial pneumonitis

Occasional (5-29%)HP:0006515

Polyarticular arthritis

Occasional (5-29%)HP:0005764

Recurrent URI

Occasional (5-29%)HP:0002788

Autoimmunity

HP:0002960

Eosinophilia

Excluded (<1%)HP:0001880

Related Conditions

Autosomal dominant hereditary disorder(parent)

Autoimmune lymphoproliferative syndrome(parent)

Autoimmune disease(parent)

Systemic disease(parent)

Quick Facts

SNOMED CT: 1197362009
UMLS CUI: C4014795
Fully Specified Name: Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (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.