6
(87.7%)

PKLR

Congenital hemolytic anemia Hydrops fetalis Jaundice Poikilocytosis Splenomegaly

pyruvate kinase hyperactivity (OMIM) pyruvate kinase deficiency of red cells (OMIM) Hemolytic anemia due to red cell pyruvate kinase deficiency (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

6
(87.7%)

KCNN4

Acanthocytosis Edema Hemolytic anemia Jaundice Splenomegaly

dehydrated hereditary stomatocytosis 2 (OMIM) Dehydrated hereditary stomatocytosis (ORDO)

Autosomal dominant inheritance

6
(87.7%)

PIEZO1

Facial edema Jaundice Nonspherocytic hemolytic anemia Schistocytosis Splenomegaly

dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (OMIM) lymphedema, hereditary, type III (OMIM) Dehydrated hereditary stomatocytosis (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

6
(87.7%)

JAK2

Anemia Fever Jaundice Poikilocytosis Splenomegaly

primary familial polycythemia due to EPO receptor mutation (OMIM) primary myelofibrosis (OMIM) acquired polycythemia vera (OMIM) Budd-Chiari syndrome (OMIM) acute myeloid leukemia (OMIM) thrombocythemia 3 (OMIM) Budd-Chiari syndrome (ORDO) Essential thrombocythemia (ORDO) Familial thrombocytosis (ORDO) Polycythemia vera (ORDO) Primary myelofibrosis (ORDO)

Autosomal dominant inheritance Somatic mutation Sporadic Autosomal recessive inheritance Multifactorial inheritance

6
(87.7%)

CASK

Fava bean-induced hemolytic anemia Fever Poikilocytosis Prolonged neonatal jaundice Splenomegaly

FG syndrome 4 (OMIM) syndromic X-linked intellectual disability Najm type (OMIM) anemia, nonspherocytic hemolytic, due to G6PD deficiency (OMIM) X-linked intellectual disability, Najm type (ORDO) Early infantile epileptic encephalopathy (ORDO)

X-linked inheritance X-linked dominant inheritance X-linked recessive inheritance

6
(87.7%)

SLC2A1

Abnormality of metabolism/homeostasis Hemolytic anemia Jaundice Splenomegaly Stomatocytosis

dystonia 9 (OMIM) encephalopathy due to GLUT1 deficiency (OMIM) hereditary cryohydrocytosis with reduced stomatin (OMIM) childhood onset GLUT1 deficiency syndrome 2 (OMIM) epilepsy, idiopathic generalized, susceptibility to, 12 (OMIM) Hereditary cryohydrocytosis with reduced stomatin (ORDO) Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity (ORDO) Childhood absence epilepsy (ORDO) Classic glucose transporter type 1 deficiency syndrome (ORDO) Paroxysmal exertion-induced dyskinesia (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous

17
(86.8%)

CALR

Acrocyanosis Anemia Fever Poikilocytosis Splenomegaly

thrombocythemia 1 (OMIM) primary myelofibrosis (OMIM) Essential thrombocythemia (ORDO) Primary myelofibrosis (ORDO)

Autosomal dominant inheritance Somatic mutation

18
(85.6%)

CDIN1

Anemia of inadequate production Jaundice Poikilocytosis Splenomegaly

congenital dyserythropoietic anemia type type 1B (OMIM)

Autosomal recessive inheritance

19
(83.9%)

ABCG8

Cholelithiasis Episodic hemolytic anemia Hyperlipidemia Splenomegaly Stomatocytosis

sitosterolemia 1 (OMIM) cholelithiasis (OMIM) Homozygous familial hypercholesterolemia (ORDO)

Autosomal recessive inheritance Polygenic inheritance

20
(82.9%)

SC5D

Acanthocytosis Hepatosplenomegaly Hyperbilirubinemia Intrahepatic cholestasis

lathosterolosis (OMIM) Lathosterolosis (ORDO)

Autosomal recessive inheritance