macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0018795
syndromic constitutional thrombocytopenia
is_a
Brodie Chole griffin syndrome
related
Brodie Chole gryphon syndrome
related
Epstein syndrome
exact
FTNS
exact
Fechtner syndrome
exact
MATINS
exact
MHA
exact
MYH9 related disorders
exact
MYH9 related thrombocytopenia
related
MYH9-RD
exact
MYH9-related disease
exact
MYH9-related disorder
exact
MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis and/or sensorineural hearing loss
exact
MYH9-related syndrome
exact
MYH9-related syndromic thrombocytopenia
exact
May-Hegglin anomaly
exact
SBS
exact
Sebastian platelet syndrome
exact
Sebastian syndrome
exact
giant platelet syndrome with thrombocytopenia
exact
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
exact
macrothrombocytopenia and progressive sensorineural deafness
exact
macrothrombocytopenia progressive deafness
exact
SPCC645.05c SPAC4A8.05c