Hepatomegaly, and Fatigue

Diseases related with Hepatomegaly and Fatigue

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Fatigue that can help you solving undiagnosed cases.

Top matches:

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE VI; GSD6

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

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Abdominal pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about DUBIN-JOHNSON SYNDROME

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR

Other less relevant matches:

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY

High match ALPHA-THALASSEMIA

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA

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

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE ID

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Top 5 symptoms//phenotypes associated to Hepatomegaly and Fatigue

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Fatigue. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abdominal pain Global developmental delay Hypochromic microcytic anemia Pallor Anemia Jaundice Cirrhosis Pain Ketosis Short stature Hypoglycemia Hyperlipidemia Hypercholesterolemia

Rare Symptoms - Less than 30% cases

Generalized hypotonia Elevated hepatic transaminase Hepatosplenomegaly Hypothyroidism Abnormality of the cardiovascular system Fever Scarring Hypochromic anemia Abdominal distention Microcytic anemia Muscle weakness Abnormality of the gastric mucosa Increased hepatic glycogen content Abnormality of the liver Hyperbilirubinemia Abnormality of coagulation Conjugated hyperbilirubinemia Biliary tract abnormality Dark urine Abnormal urinary color Decreased liver function Recurrent hypoglycemia Fasting hypoglycemia Arthritis Pneumonia Hepatic fibrosis Recurrent infections Congestive heart failure Abnormality of the pancreas Hypoglycemic seizures Atransferrinemia Bile duct proliferation Portal fibrosis Eruptive xanthomas Gastrointestinal hemorrhage Myalgia Myoglobinuria Exercise intolerance Muscle stiffness Progressive muscle weakness Muscle cramps Nausea Nausea and vomiting Irritability Headache Pancreatitis Diarrhea Skeletal muscle atrophy Increased circulating chylomicron concentration Exercise-induced myalgia Lipemia retinalis Acute pancreatitis Hyperlipoproteinemia Colitis Vomiting Abnormality of the hypothalamus-pituitary axis Lactic acidosis Tachypnea Abnormal ventricular filling Increased pulmonary vascular resistance Peripheral edema Abnormal left ventricle morphology Tricuspid regurgitation Heart murmur Palpitations Hemolytic anemia Atrial fibrillation Ascites Dyspnea Abnormality of skin pigmentation Abnormality of the skeletal system Intermittent jaundice Postnatal growth retardation Delayed puberty Poor appetite Acidosis Increased serum iron Motor delay Muscular hypotonia Seizures Dysplastic erythropoesis Decreased transferrin saturation Elevated hepatic iron concentration Anisopoikilocytosis Reticulocytopenia Reduced alpha/beta synthesis ratio Decreased mean corpuscular volume Poikilocytosis Increased serum ferritin Adrenal insufficiency Azoospermia Cafe-au-lait spot Hypogonadism Increased muscle glycogen content


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