61
(75.6%)

GCLC

Abnormality of metabolism/homeostasis Hemolytic anemia Hepatosplenomegaly Jaundice

gamma-glutamylcysteine synthetase deficiency (OMIM) Glutamate-cysteine ligase deficiency (ORDO)

Autosomal recessive inheritance

61
(75.6%)

SP110

Anemia Hepatosplenomegaly Jaundice Panhypogammaglobulinemia

hepatic veno-occlusive disease-immunodeficiency syndrome (OMIM) Hepatic veno-occlusive disease-immunodeficiency syndrome (ORDO)

Autosomal recessive inheritance

61
(75.6%)

HMGCL

Anemia Edema Hepatomegaly Jaundice

3-hydroxy-3-methylglutaric aciduria (OMIM) 3-hydroxy-3-methylglutaric aciduria (ORDO)

Autosomal recessive inheritance

61
(75.6%)

SLC25A13

Anemia Hepatosplenomegaly Hyperammonemia Jaundice

citrullinemia, type II, adult-onset (OMIM) neonatal intrahepatic cholestasis due to citrin deficiency (OMIM) Citrullinemia type II (ORDO) Neonatal intrahepatic cholestasis due to citrin deficiency (ORDO)

Autosomal recessive inheritance

61
(75.6%)

ADAR

Diabetes mellitus Hemolytic anemia Hepatosplenomegaly Prolonged neonatal jaundice

dyschromatosis symmetrica hereditaria (OMIM) Aicardi-Goutieres syndrome 6 (OMIM) Familial infantile bilateral striatal necrosis (ORDO) Dyschromatosis symmetrica hereditaria (ORDO) Aicardi-Goutières syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance Mitochondrial inheritance

61
(75.6%)

PALB2

Diabetes mellitus Hepatosplenomegaly Jaundice Pyridoxine-responsive sideroblastic anemia

hereditary breast carcinoma (OMIM) Fanconi anemia complementation group N (OMIM) Familial pancreatic carcinoma (ORDO) Hereditary breast and ovarian cancer syndrome (ORDO) Fanconi anemia (ORDO)

Autosomal dominant inheritance Somatic mutation Autosomal recessive inheritance

61
(75.6%)

BRCA2

Hematuria Hepatosplenomegaly Jaundice Pyridoxine-responsive sideroblastic anemia

hereditary breast carcinoma (OMIM) medulloblastoma (OMIM) familial prostate carcinoma (OMIM) Wilms tumor 1 (OMIM) Fanconi anemia complementation group D1 (OMIM) breast-ovarian cancer, familial, susceptibility to, 2 (OMIM) glioma susceptibility 3 (OMIM) pancreatic cancer, susceptibility to, 2 (OMIM) Familial pancreatic carcinoma (ORDO) Hereditary breast and ovarian cancer syndrome (ORDO) Nephroblastoma (ORDO) Fanconi anemia (ORDO)

Autosomal dominant inheritance Somatic mutation Autosomal recessive inheritance Heterogeneous Multifactorial inheritance

61
(75.6%)

BRCA1

Anemia Diabetes mellitus Hepatosplenomegaly Jaundice

hereditary breast carcinoma (OMIM) breast-ovarian cancer, familial, susceptibility to, 1 (OMIM) Fanconi anemia, complementation group S (OMIM) Familial pancreatic carcinoma (ORDO) Hereditary breast and ovarian cancer syndrome (ORDO) Primary peritoneal carcinoma (ORDO) Fanconi anemia (ORDO)

Autosomal dominant inheritance Somatic mutation Multifactorial inheritance Autosomal recessive inheritance

61
(75.6%)

SMAD4

Anemia Hematuria Hepatosplenomegaly Jaundice

Myhre syndrome (OMIM) generalized juvenile polyposis/juvenile polyposis coli (OMIM) juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (OMIM) familial pancreatic carcinoma (OMIM) Familial pancreatic carcinoma (ORDO) Myhre syndrome (ORDO) Generalized juvenile polyposis/juvenile polyposis coli (ORDO) Hereditary hemorrhagic telangiectasia (ORDO) Familial thoracic aortic aneurysm and aortic dissection (ORDO)

Autosomal dominant inheritance Somatic mutation

70
(75.3%)

NHLRC2

Chronic hemolytic anemia Elliptocytosis Hepatocellular necrosis Hepatomegaly Strabismus

fibrosis, neurodegeneration, and cerebral angiomatosis (OMIM)

Autosomal recessive inheritance