A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction. [From Orphanet]
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Haemolytic anaemias
Autosomal recessive
19p13.3
A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 612925.1.1 | Saudi Arabia | Male | Yes | Yes | Unilateral renal agenesis; Seizure; Hype... Unilateral renal agenesis; Seizure; Hypertension; Renal insufficiency; Anemia; Thrombocytopenia; Hemolytic-uremic syndrome  | NM_000064.4:c.3343G>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2020 | Patient had a patern... |