Hepatomegaly, and Fatigue

GLYCOGEN STORAGE DISEASE VI; GSD6 Is also known as phosphorylase deficiency glycogen-storage disease of liver|hers disease|gsd vi

• Intellectual disability
• Global developmental delay
• Short stature
• Growth delay
• Failure to thrive

SOURCES: OMIM MENDELIAN

Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.

DUBIN-JOHNSON SYNDROME Is also known as hyperbilirubinemia ii|hblrdj|hyperbilirubinemia, dubin-johnson type|hyperbilirubinemia type 2|dubin-sprinz disease|sprinz-nelson syndrome

• Pain
• Hepatomegaly
• Fever
• Fatigue
• Abdominal pain

SOURCES: OMIM ORPHANET MENDELIAN

The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS ) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by van de Steeg et al., 2012).

HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR Is also known as rotor syndrome

• Hepatomegaly
• Fever
• Fatigue
• Abnormality of the skeletal system
• Abdominal pain

SOURCES: OMIM MENDELIAN

FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY Is also known as familial or idiopathic restrictive cardiomyopathy

• Failure to thrive
• Hepatomegaly
• Fatigue
• Dyspnea
• Ascites

SOURCES: ORPHANET MENDELIAN

• Anemia
• Hepatomegaly
• Fatigue
• Splenomegaly
• Jaundice

SOURCES: OMIM MENDELIAN

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.

SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS Is also known as severe congenital hypochromic sideroblastic anemia

• Growth delay
• Anemia
• Hepatomegaly
• Fatigue
• Splenomegaly

SOURCES: OMIM ORPHANET MENDELIAN

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc|gsd due to liver phosphorylase kinase deficiency|xlg|glycogen storage disease type 9c|glycogen storage disease type 9a|gsd ixc|gsd type 9c|glycogen storage disease type ixc|glycogenosis due to liver phosphorylase kinase deficiency|glycogenosi

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM ORPHANET MENDELIAN

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

• Growth delay
• Anemia
• Hepatomegaly
• Fatigue
• Congestive heart failure

SOURCES: OMIM ORPHANET MESH MENDELIAN

• Failure to thrive
• Pain
• Hepatomegaly
• Fatigue
• Splenomegaly

SOURCES: OMIM MENDELIAN

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Failure to thrive

SOURCES: OMIM MENDELIAN