21
(82.7%)

GP1BA

Hematuria Hemolytic anemia Petechiae Splenomegaly Stomatocytosis

Bernard-Soulier syndrome, type A2, autosomal dominant (OMIM) pseudo-von Willebrand disease (OMIM) Bernard-Soulier syndrome (OMIM) nonarteritic anterior ischemic optic neuropathy, susceptibility to (OMIM) Bernard-Soulier syndrome (ORDO) Fetal and neonatal alloimmune thrombocytopenia (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

21
(82.7%)

MPL

Anemia Fever Petechiae Poikilocytosis Splenomegaly

primary myelofibrosis (OMIM) thrombocythemia 2 (OMIM) congenital amegakaryocytic thrombocytopenia (OMIM) Essential thrombocythemia (ORDO) Congenital amegakaryocytic thrombocytopenia (ORDO) Familial thrombocytosis (ORDO) Polycythemia vera (ORDO) Primary myelofibrosis (ORDO)

Somatic mutation Autosomal dominant inheritance Autosomal recessive inheritance Sporadic

21
(82.7%)

TET2

Fever Normochromic anemia Petechiae Poikilocytosis Splenomegaly

myelodysplastic syndrome (OMIM) Essential thrombocythemia (ORDO) Polycythemia vera (ORDO) Acquired idiopathic sideroblastic anemia (ORDO) Primary myelofibrosis (ORDO) Refractory anemia with excess blasts (ORDO) Refractory anemia (ORDO) Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (ORDO)

Somatic mutation Autosomal dominant inheritance Sporadic

21
(82.7%)

GATA1

Acanthocytosis Hemolytic anemia Nonimmune hydrops fetalis Petechiae Splenomegaly

Down syndrome (OMIM) thrombocytopenia, X-linked, with or without dyserythropoietic anemia (OMIM) X-linked dyserythropoetic anemia with abnormal platelets and neutropenia (OMIM) beta-thalassemia-X-linked thrombocytopenia syndrome (OMIM) Blackfan-Diamond anemia (ORDO) Beta-thalassemia-X-linked thrombocytopenia syndrome (ORDO) Thrombocytopenia with congenital dyserythropoietic anemia (ORDO) Congenital erythropoietic porphyria (ORDO)

Sporadic X-linked recessive inheritance Autosomal recessive inheritance

25
(80.2%)

STEAP3

Anemia Hepatosplenomegaly Increased circulating ferritin concentration Poikilocytosis Splenomegaly

severe congenital hypochromic anemia with ringed sideroblasts (OMIM) Severe congenital hypochromic anemia with ringed sideroblasts (ORDO)

Autosomal dominant inheritance

26
(79.4%)

VPS13A

Acanthocytosis Elevated serum creatine kinase Hepatomegaly Splenomegaly

chorea-acanthocytosis (OMIM) Choreoacanthocytosis (ORDO)

Autosomal recessive inheritance

27
(78.9%)

UMPS

Anemia Hematuria Poikilocytosis Splenomegaly

orotic aciduria (OMIM) Hereditary orotic aciduria (ORDO)

Autosomal recessive inheritance

28
(78.4%)

BPGM

Abnormality of metabolism/homeostasis Jaundice Normochromic anemia Splenomegaly

hemolytic anemia due to diphosphoglycerate mutase deficiency (OMIM)

Autosomal recessive inheritance

28
(78.4%)

GPI

Decreased glucosephosphate isomerase level Jaundice Nonspherocytic hemolytic anemia Splenomegaly

hemolytic anemia due to glucophosphate isomerase deficiency (OMIM)

Autosomal recessive inheritance

28
(78.4%)

LIPA

Anemia Fever Jaundice Splenomegaly

lysosomal acid lipase deficiency (OMIM) Wolman disease (ORDO) Cholesteryl ester storage disease (ORDO)

Autosomal recessive inheritance