Phenotype #0000043860

Individual ID 00057175
Associated disease HMOX1D
Phenotype details see paper; severe growth retardation, persistent hemolytic anemia characterized by marked erythrocyte fragmentation and intravascular hemolysis, with paradoxical increase serum haptoglobin and low bilirubin, abnormal coagulation/fibrinolysis system, associated with elevated thrombomodulin and von Willebrand factor, indicated severe, persistent endothelial damage; electron microscopy renal glomeruli revealed endothelium detachment, with subendothelial deposition of unidentified material; iron deposition renal/hepatic tissue, ...
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 02y02m
Phenotype/Onset recurrent fever (HP:0001954), generalized erythematous rash (HP:0007432)
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-01-14 12:14:50 +01:00 (CET)
Date last edited N/A

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