Hepatomegaly, and Ascites

Diseases related with Hepatomegaly and Ascites

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


Top matches:

High match FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY


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 LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2


Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

High match WOLMAN DISEASE


Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease (see this term). The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about WOLMAN DISEASE

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Other less relevant matches:

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

High match ISOLATED POLYCYSTIC LIVER DISEASE


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

High match ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS


Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.

ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS Is also known as acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS

High match DESMOPLASTIC SMALL ROUND CELL TUMOR


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

High match LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1


Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

High match PLEURAL MESOTHELIOMA


Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

High match COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE


Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).

Related symptoms:

  • Growth delay
  • Pain
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: OMIM MESH MENDELIAN

More info about COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE

Top 5 symptoms//phenotypes associated to Hepatomegaly and Ascites

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pain Abdominal distention Decreased antibody level in blood Splenomegaly Neoplasm

Rare Symptoms - Less than 30% cases


Nausea and vomiting Hepatic failure Cachexia Growth delay Diarrhea Malnutrition Lymphoproliferative disorder Esophageal varix Dilatation Abnormality of the kidney Renal cyst Polycystic kidney dysplasia Intestinal obstruction Feeding difficulties in infancy Hemophagocytosis Pleural effusion Weight loss Hypoalbuminemia Pancytopenia Lymphoma Autoimmunity Hepatosplenomegaly Immunodeficiency Dyspnea Recurrent infections Hemolytic anemia Histiocytosis Ileus Stomatitis Recurrent aphthous stomatitis Dysphagia Granulomatosis Generalized lymphadenopathy Dysgammaglobulinemia Mediastinal lymphadenopathy Respiratory distress Immune dysregulation Abdominal mass Pulmonary infiltrates Neoplasm of the central nervous system Testicular neoplasm Abnormality of the peritoneum Pneumonia IgG deficiency Gastrointestinal obstruction Hodgkin lymphoma Autoimmune hemolytic anemia Pericardial effusion Thrombocytopenia Elevated erythrocyte sedimentation rate Cough Lymphopenia Failure to thrive Malignant mesothelioma Nausea Thrombocytosis Malabsorption Abnormal intestine morphology Clubbing Iron deficiency anemia Thromboembolism Pulmonary embolism Hypercoagulability Recurrent respiratory infections Hypoproteinemia Generalized edema Protein-losing enteropathy Intestinal lymphangiectasia Budd-Chiari syndrome Hepatic vein thrombosis Respiratory tract infection Edema Chest pain Abnormality of cardiovascular system physiology Hypotension Abnormal lung morphology Abnormality of the thorax Oral-pharyngeal dysphagia Night sweats Abnormality of the pleura Functional respiratory abnormality Pericardial mesothelioma Fourth cranial nerve palsy Constitutional symptom Neoplasm of the lung Obstruction of the superior vena cava Pleural mesothelioma Peritoneal mesothelioma Neoplasm of the pancreas Metabolic acidosis Ovarian neoplasm Global developmental delay Respiratory insufficiency Cholangiocarcinoma Liver abscess Epigastric pain Cholangitis Episodic fever Portal hypertension Cholestasis Pruritus Hypertension Adrenal calcification Bone-marrow foam cells Steatorrhea Adrenal insufficiency T-cell lymphoma Abnormality of the nervous system Impaired T cell function Aplastic anemia Uveitis Combined immunodeficiency Abnormal ventricular filling Increased pulmonary vascular resistance Peripheral edema Abnormal left ventricle morphology Tricuspid regurgitation Heart murmur Tachypnea Palpitations Atrial fibrillation Fatigue Gastroesophageal reflux Abnormality of the liver Sarcoma Irritability Constipation Mitochondrial respiratory chain defects Macrovesicular hepatic steatosis Hypersplenism Microvesicular hepatic steatosis Conjugated hyperbilirubinemia Acute hepatic failure Mitochondrial myopathy Abnormality of the coagulation cascade Hyperbilirubinemia Aciduria Increased serum lactate Hepatic steatosis Lactic acidosis Elevated hepatic transaminase Gastrointestinal hemorrhage Abnormality of the pancreas Abnormality of the cardiovascular system Back pain Elevated alkaline phosphatase Cerebral hemorrhage Multiple renal cysts Abnormality of the respiratory system Hepatic cysts Jaundice Increased total bilirubin Polycystic liver disease Generalized hypotonia Feeding difficulties Myopathy Acidosis Hypoproteinemic edema



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