Hepatomegaly, and Vomiting

Diseases related with Hepatomegaly and Vomiting

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

Top matches:

Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.

TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS Is also known as transient infantile hypertriglyceridemia and fatty liver

Related symptoms:

  • Short stature
  • Failure to thrive
  • Hepatomegaly
  • Vomiting
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.

3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY Is also known as hmgcs2 deficiency|hmg-coa synthase deficiency|mitochondrial hmg-coa synthase deficiency

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY

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

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

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd|syndromic sensorineural hearing loss due to coxpd

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI, see this term) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.

HYPERINSULINISM DUE TO UCP2 DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to ucp2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO UCP2 DEFICIENCY

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

Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Top 5 symptoms//phenotypes associated to Hepatomegaly and Vomiting

Symptoms // Phenotype % cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Hepatic steatosis Uncommon - Between 30% and 50% cases
Coma Uncommon - Between 30% and 50% cases
Lactic acidosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatic failure Failure to thrive Seizures Fever Lethargy Hypoglycemia Abnormality of the liver Acidosis

Rare Symptoms - Less than 30% cases

Dyspnea Ascites Encephalopathy Abdominal pain Hypoketotic hypoglycemia Drowsiness Cholestasis Jaundice Cirrhosis Neonatal hypoglycemia Hyperbilirubinemia Metabolic acidosis Increased serum lactate Tachycardia Decreased liver function Irritability Diarrhea Pain Muscular hypotonia Splenomegaly Respiratory distress Pancreatitis Global developmental delay Renal insufficiency Anemia Abnormality of the coagulation cascade Increased urinary glycerol Impaired gluconeogenesis Neonatal hyperbilirubinemia Severe lactic acidosis Ketosis Hypothyroidism Hyperuricemia Hyperventilation Respiratory insufficiency Tachypnea Cough Abnormal lung morphology Aminoaciduria Clubbing Interstitial pulmonary abnormality Severe failure to thrive Apnea Cognitive impairment Hyperhidrosis Mitochondrial myopathy Feeding difficulties Hypoalbuminemia Acute hepatic failure Conjugated hyperbilirubinemia Aciduria Microvesicular hepatic steatosis Abdominal distention Feeding difficulties in infancy Hypersplenism Myopathy Macrovesicular hepatic steatosis Mitochondrial respiratory chain defects Pallor Vitamin B1 deficiency Abnormality of fatty-acid metabolism Pancreatic islet-cell hyperplasia Motor delay Secondary growth hormone deficiency Hyperinsulinemic hypoglycemia Agitation Large for gestational age Hyperinsulinemia Progressive neurologic deterioration Short stature Chronic infection Primary adrenal insufficiency Sepsis Hypertension Hypoglycemic coma Respiratory arrest Recurrent hypoglycemia Abnormality of metabolism/homeostasis Renal tubular dysfunction Hemiplegia/hemiparesis Hyperammonemia Choreoathetosis Chorea Neutropenia Abnormality of the kidney Nausea and vomiting Thrombocytopenia Dystonia Optic atrophy Growth delay Intellectual disability Increased body weight Hepatic fibrosis Hypertriglyceridemia Abnormality of the cardiovascular system Dilatation Pruritus Congenital sensorineural hearing impairment Hepatocellular carcinoma Hypergonadotropic hypogonadism Pancytopenia Hypogonadism Sensorineural hearing impairment Hearing impairment Fulminant hepatitis Acute hepatitis Membranous nephropathy Dark urine Membranoproliferative glomerulonephritis Glomerulonephritis Renal cyst Hepatitis Nausea Carcinoma Cholangiocarcinoma Liver abscess Epigastric pain Cholangitis Esophageal varix Episodic fever Portal hypertension Polycystic kidney dysplasia Alveolar proteinosis


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