autoimmune polyendocrinopathy type 4
ORPHA: 227990
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autoimmune polyendocrinopathy type 4, sourced from HPO and Orphanet clinical annotations.
AutoimmunityMacrocytic anemiaAtrophic gastritisCeliac diseaseAutoimmune antibody positivityType I diabetes mellitusVitiligoAlopeciaDecreased total leukocyte countBiliary cirrhosisDecreased circulating immunoglobulin concentrationAnterior pituitary dysgenesisXerostomiaHypergonadotropic hypogonadismCentral diabetes insipidusOsteopeniaIridocyclitisKeratoconjunctivitis siccaRheumatoid arthritisTubulointerstitial nephritisAutoimmune thrombocytopeniaAntiphospholipid antibody positivityAbnormal pulmonary interstitial morphologyAbnormal blistering of the skinAplasia/Hypoplasia of the spleenHepatitisNon-caseating epithelioid cell granulomatosisThymoma
Classification & Codes
Orphanet Code
ORPHA:227990autoimmune polyendocrinopathy type 4
| Orphanet | ORPHA:227990 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO