STAT3-related early-onset multisystem autoimmune disease
MONDO:0014414Mondo
Findings
No curated finding names STAT3-related early-onset multisystem autoimmune disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Autoimmune hemolytic anemiaHPOHP:0001890
- 11 of 13 reported patients
- Type I diabetes mellitusHPOHP:0100651
- 4 of 5 reported patients · Neonatal onset
- 2 of 13 reported patients
- Short statureHPOHP:0004322
- 12 of 16 reported patients
- HepatosplenomegalyHPOHP:0001433
- 9 of 13 reported patients
- Autoimmune thrombocytopeniaHPOHP:0001973
- 7 of 13 reported patients
- Autoimmune neutropeniaHPOHP:0001904
- 6 of 13 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 2 of 5 reported patients
- Celiac diseaseHPOHP:0002608
- 2 of 5 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 2 of 5 reported patients
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 2 of 5 reported patients
- Abnormal intestine morphologyHPOHP:0002242
- 5 of 13 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 4 of 13 reported patients
Show the remaining 11
- Interstitial pneumonitisHPOHP:0006515
- 3 of 13 reported patients
- Delayed pubertyHPOHP:0000823
- 1 of 5 reported patients
- Desquamative interstitial pneumonitisHPOHP:0005942
- 1 of 5 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 5 reported patients
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 1 of 5 reported patients
- HypothyroidismHPOHP:0000821
- 3 of 18 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- STAT3HGNC:11364
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- ADIPOQHGNC:13633
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022