Hepatomegaly, and Hyperlipidemia

Diseases related with Hepatomegaly and Hyperlipidemia

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

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

Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB ), gamma (PHKG2 ), and delta (CALM1 ). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (OMIM ), and GSD9C (OMIM ), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007).See also X-linked muscle PHK deficiency (GSD9D ), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1 ).

GLYCOGEN STORAGE DISEASE IXA1; GSD9A1 Is also known as glycogen storage disease viii, formerly|gsd8, formerly|gsd viii, formerly|liver glycogenosis, x-linked, type i|xlg1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXA1; GSD9A1

Other less relevant matches:

High match FISH-EYE DISEASE

Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.

FISH-EYE DISEASE Is also known as dyslipoproteinemic corneal dystrophy|alpha-lcat deficiency|lcata deficiency|partial lcat deficiency|fed|alpha-lecithin:cholesterol acyltransferase deficiency

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Splenomegaly
  • Visual loss
  • Abnormality of the eye


SOURCES: OMIM ORPHANET MENDELIAN

More info about FISH-EYE DISEASE

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

Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption.

CHOLESTERYL ESTER STORAGE DISEASE Is also known as cholesterol ester storage disease

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Jaundice
  • Pruritus


SOURCES: ORPHANET MENDELIAN

More info about CHOLESTERYL ESTER STORAGE DISEASE

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

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

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hyperlipidemia

Symptoms // Phenotype % cases
Hypertriglyceridemia Very Common - Between 80% and 100% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypercholesterolemia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypoglycemia Growth delay Short stature Hepatic steatosis Hepatic fibrosis Decreased liver function Ketosis Cirrhosis Elevated hepatic transaminase Intellectual disability

Rare Symptoms - Less than 30% cases

Jaundice Decreased HDL cholesterol concentration Decreased adiponectin level Anemia Abnormality of lipid metabolism Decreased serum leptin Oligomenorrhea Generalized hypotonia Insulin-resistant diabetes mellitus Lipodystrophy Polycystic ovaries Acanthosis nigricans Seizures Pancreatitis Fatigue Abnormality of the liver Motor delay Hepatitis Hemolytic anemia Small for gestational age Abnormality of the nervous system Hypoglycemic seizures Lymphadenopathy Portal fibrosis Fasting hypoglycemia Recurrent hypoglycemia Abdominal distention Lactic acidosis Acidosis Muscular hypotonia Bile duct proliferation Cholestasis Adrenal calcification Elevated plasma citrulline Loss of gluteal subcutaneous adipose tissue Loss of facial adipose tissue Loss of subcutaneous adipose tissue in limbs Calf muscle hypertrophy Epidermal acanthosis Diabetes mellitus Hypermethioninemia Hyperbilirubinemia Giant cell hepatitis Hypergalactosemia Hypoproteinemia Intrahepatic cholestasis Vomiting Prolonged neonatal jaundice Muscle weakness Hepatic failure Arteriosclerosis Increased hepatic glycogen content Opacification of the corneal stroma Atherosclerosis Coronary artery atherosclerosis Angina pectoris Precocious atherosclerosis Corneal opacity Increased LDL cholesterol concentration Increased VLDL cholesterol concentration Insulin resistance Abnormality of the eye Visual loss Visual impairment Hyperuricemia Increased intraabdominal fat Esophageal varix Postnatal growth retardation Increased body weight Fever Thrombocytopenia Hepatosplenomegaly Neutropenia Increased serum ferritin Hemophagocytosis Hypofibrinogenemia Diarrhea Abnormality of the cardiovascular system Pruritus Nausea and vomiting Myocardial infarction Marked muscular hypertrophy


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