Total: 4312 results
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
KCNN4
Acanthocytosis Edema Hemolytic anemia Jaundice Splenomegaly
dehydrated hereditary stomatocytosis 2 (OMIM) Dehydrated hereditary stomatocytosis (ORDO)
Autosomal dominant inheritance
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)
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
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
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)