Factor I Deficiency

ORPHA: 3351 Treatment Available

Overview

medical condition

Available Treatments (1)

DrugFormStatusCountriesLead Time
C1 esterase inhibitor (human)
Orphan Cold Chain
Lyophilized powder for reconstitutionFDA Approved47d

Clinical Presentation

Signs and symptoms associated with Factor I Deficiency, sourced from HPO and Orphanet clinical annotations.

MicropenisGingival bleedingDevelopmental cataractMicrophthalmiaCyanosisBruising susceptibilityTachycardiaRight ventricular hypertrophyLeft ventricular hypertrophyAbnormal bleedingSubcutaneous hemorrhageFeverAbdominal painOpisthotonusVolvulusLoss of consciousnessProlonged prothrombin timeDecreased testicular sizeAbnormal subungual morphologyInternal hemorrhageAbnormal umbilical stump bleedingSplenic ruptureHemorrhagic ovarian cystAbnormal cardiovascular system morphologyClubbing of fingersAnaphylactic shock

Classification & Codes

Orphanet Code

ORPHA:335
Factor I Deficiency
OrphanetORPHA:335
Treatments1 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO