Hepatomegaly, and Abdominal pain

Diseases related with Hepatomegaly and Abdominal pain

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

Top matches:

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

High match CAROLI DISEASE

Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAROLI DISEASE

Other less relevant matches:

HBV is a DNA virus that enters the liver via the bloodstream, and replication occurs only in liver tissue. Transmission occurs by percutaneous or mucosal exposure to infected blood or other body fluids. Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma (HCC ) can be attributed to chronic HBV infection. Worldwide, 2 billion people have been infected with HBV, 360 million have chronic infection, and 600,000 die each year from HBV-related liver disease or HCC. However, there is marked geographic variability in HBV prevalence, with chronic infection affecting less than 2% of the populations of North America and western and northern Europe; between 2 and 7% of the populations of eastern and central Europe, the Amazon basin, the Middle East, and the Indian subcontinent; and more than 8% of the populations of Asia, sub-Saharan Africa, and the Pacific (Seeff and Hoofnagle, 2006; Shepard et al., 2006).

HEPATITIS B VIRUS, SUSCEPTIBILITY TO Is also known as hbv, susceptibility to

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Vomiting
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HEPATITIS B VIRUS, SUSCEPTIBILITY TO

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE ID

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD).

ISOLATED POLYCYSTIC LIVER DISEASE Is also known as pcld|autosomal dominant polycystic liver disease|adpcld

Related symptoms:

  • Hepatomegaly
  • Respiratory insufficiency
  • Dilatation
  • Abdominal pain
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED POLYCYSTIC LIVER DISEASE

Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.

DESMOPLASTIC SMALL ROUND CELL TUMOR Is also known as dsrct

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Constipation


SOURCES: MESH ORPHANET MENDELIAN

More info about DESMOPLASTIC SMALL ROUND CELL TUMOR

FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency|hyperlipoproteinemia, type ib|familial apoc-ii deficiency|c-ii anapolipoproteinemia

Related symptoms:

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

High match AA AMYLOIDOSIS

Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

AA AMYLOIDOSIS Is also known as secondary amyloidosis|inflammatory amyloidosis|reactive amyloidosis

Related symptoms:

  • Hepatomegaly
  • Vomiting
  • Abnormal heart morphology
  • Abdominal pain
  • Hypothyroidism


SOURCES: ORPHANET MENDELIAN

More info about AA AMYLOIDOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Abdominal pain

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Ascites Jaundice Abnormality of the liver Fatigue

Rare Symptoms - Less than 30% cases

Hyperlipoproteinemia Abdominal distention Pancreatitis Polycystic kidney dysplasia Abnormality of the cardiovascular system Gastrointestinal hemorrhage Eruptive xanthomas Lipemia retinalis Nausea Epigastric pain Abnormality of the nervous system Hypertriglyceridemia Lymphadenopathy Cholestasis Abnormality of the gastric mucosa Hyperbilirubinemia Abnormality of coagulation Conjugated hyperbilirubinemia Biliary tract abnormality Dark urine Abnormal urinary color Increased circulating chylomicron concentration Dilatation Renal cyst Arthralgia Episodic abdominal pain Chronic pancreatitis Joint swelling Lethargy Uveitis Global developmental delay Visual impairment Visual loss Macrocephaly Encephalopathy Pericarditis Elevated erythrocyte sedimentation rate Rheumatoid arthritis Pleural effusion Hypercholesterolemia Skin rash Cerebral atrophy Autoimmunity Arthritis Myalgia Falls Malabsorption Juvenile rheumatoid arthritis Atrioventricular block Cardiac amyloidosis Abnormal cardiac ventricle morphology Renal amyloidosis Abnormal oral mucosa morphology Abnormal echocardiogram Abnormal renal physiology Enlarged kidney Acute kidney injury Amyloidosis Malnutrition Adrenal insufficiency Chronic kidney disease Elevated C-reactive protein level Venous thrombosis Ventricular tachycardia Chronic diarrhea Nephrotic syndrome Hypotension Nephropathy Abdominal mass Proteinuria Hypothyroidism Abnormal heart morphology Serositis Anterior uveitis Gastrointestinal obstruction Increased total bilirubin Abnormality of the peritoneum Carcinoma Failure to thrive Fulminant hepatitis Acute hepatitis Membranous nephropathy Chronic infection Membranoproliferative glomerulonephritis Hepatocellular carcinoma Glomerulonephritis Hepatitis Cirrhosis Cholangiocarcinoma Colitis Liver abscess Cholangitis Esophageal varix Episodic fever Portal hypertension Pruritus Hypertension Abnormality of skin pigmentation Abnormality of the skeletal system Intermittent jaundice Hyperlipidemia Acute pancreatitis Testicular neoplasm Constipation Neoplasm of the central nervous system Mediastinal lymphadenopathy Ileus Neoplasm of the pancreas Neoplasm of the lung Ovarian neoplasm Sarcoma Cachexia Nausea and vomiting Weight loss Anemia Respiratory insufficiency Neoplasm Polycystic liver disease Hepatic cysts Abnormality of the pancreas Abnormality of the respiratory system Multiple renal cysts Cerebral hemorrhage Elevated alkaline phosphatase Back pain Feeding difficulties in infancy Gastroesophageal reflux Hepatic amyloidosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Pectus carinatum, related diseases and genetic alterations Dysarthria and Migraine, related diseases and genetic alterations