syndromic multisystem autoimmune disease due to ICTH deficiency
ORPHA: 228426
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 syndromic multisystem autoimmune disease due to ICTH deficiency, sourced from HPO and Orphanet clinical annotations.
Global developmental delayHepatosplenomegalyFailure to thrive in infancyAbnormal facial shapeRelative macrocephalyChronic lung diseaseProptosisHypothyroidismHypersplenismRecurrent infectionsAutoimmunityFloppy infantGastrostomy tube feeding in infancyHepatitisAnti-thyroid peroxidase antibody positivityThyroiditisDolichocephalyProminent occiputShort chinPosteriorly rotated earsChoanal atresiaPtosisCirrhosisPortal hypertensionPancytopeniaAutoimmune neutropeniaFrontal bossingAbnormal intestine morphologyAnti-smooth muscle antibody positivityAntineutrophil antibody positivityAcute hepatic failureMidface retrusionCamptodactylyAnti-glutamic acid decarboxylase antibody positivityClinodactylyCholangitisInsulin receptor antibody positivityType I diabetes mellitus
Classification & Codes
Orphanet Code
ORPHA:228426syndromic multisystem autoimmune disease due to ICTH deficiency
| Orphanet | ORPHA:228426 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO