Hepatomegaly, and Hepatic steatosis

Diseases related with Hepatomegaly and Hepatic steatosis

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Hepatic steatosis 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

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Other less relevant matches:

AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as akt2-related fpld

Related symptoms:

  • Hepatomegaly
  • Hepatic steatosis
  • Hypertriglyceridemia
  • Insulin resistance
  • Acanthosis nigricans


SOURCES: ORPHANET MENDELIAN

More info about AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia|niccd

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

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

CIDEC-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as lipodystrophy, familial partial, associated with cidec mutations|fpld5|cidec-related fpld

Related symptoms:

  • Hepatomegaly
  • Diabetes mellitus
  • Hepatic steatosis
  • Epidermal acanthosis
  • Hypertriglyceridemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CIDEC-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2 Is also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|basd2

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Osteoporosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hepatic steatosis

Symptoms // Phenotype % cases
Elevated hepatic transaminase Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Jaundice Uncommon - Between 30% and 50% cases
Hepatic failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertriglyceridemia Cholestasis Abnormality of the nervous system Lactic acidosis Decreased liver function Hyperbilirubinemia Vomiting Splenomegaly Abnormality of the liver

Rare Symptoms - Less than 30% cases

Giant cell hepatitis Decreased serum leptin Hyperlipidemia Polycystic ovaries Lipodystrophy Insulin-resistant diabetes mellitus Oligomenorrhea Decreased adiponectin level Abnormality of lipid metabolism Hypoglycemia Sensorineural hearing impairment Abnormality of the coagulation cascade Hepatitis Hearing impairment Increased serum lactate Prolonged neonatal jaundice Intrahepatic cholestasis Acanthosis nigricans Steatorrhea Hepatic fibrosis Feeding difficulties Acidosis Pancreatitis Intellectual disability Global developmental delay Generalized hypotonia Growth delay Malabsorption Calf muscle hypertrophy Primary adrenal insufficiency Hypergonadotropic hypogonadism Elevated alkaline phosphatase Abnormal bleeding Congenital sensorineural hearing impairment Osteoporosis Marked muscular hypertrophy Diarrhea Loss of subcutaneous adipose tissue in limbs Diabetes mellitus Loss of gluteal subcutaneous adipose tissue Macrovesicular hepatic steatosis Epidermal acanthosis Loss of facial adipose tissue Hypersplenism Rickets Feeding difficulties in infancy Abdominal distention Myopathy Neonatal cholestatic liver disease Chronic hepatic failure Hypertyrosinemia Irritability Metabolic acidosis Ascites Aciduria Microvesicular hepatic steatosis Hypoalbuminemia Portal fibrosis Biliary tract abnormality Mitochondrial myopathy Prolonged prothrombin time Acute hepatic failure Conjugated hyperbilirubinemia Pancytopenia Short stature Hypogonadism Intellectual disability, mild Hypolipidemia Vitamin D deficiency Vertical supranuclear gaze palsy Fat malabsorption Slurred speech Dysmetria Gait ataxia Delayed speech and language development Increased intraabdominal fat Ataxia Severe lactic acidosis Neonatal hypotonia Gastroesophageal reflux Respiratory distress Increased body weight Abnormality of the cardiovascular system Insulin resistance Anemia Encephalopathy Recurrent infections Renal insufficiency Micronodular cirrhosis Leukopenia Recurrent bacterial infections Decreased antibody level in blood Hypermetropia Hepatosplenomegaly Immunodeficiency Small for gestational age Seizures Elevated plasma citrulline Hypermethioninemia Hypergalactosemia Decreased HDL cholesterol concentration Hypoproteinemia Hypercholesterolemia Hemolytic anemia Mitochondrial respiratory chain defects


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