Hepatomegaly, and Hypercholesterolemia

Diseases related with Hepatomegaly and Hypercholesterolemia

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

Top matches:

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

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

Other less relevant matches:

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

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

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

High match CCDC115-CDG

Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CCDC115-CDG

Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE Is also known as fpld1|familial partial lipodystrophy type 1|lipodystrophy, familial partial, kobberling type

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Obesity
  • Diabetes mellitus
  • Hepatic steatosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hypercholesterolemia

Symptoms // Phenotype % cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Decreased liver function Short stature Growth delay Hyperlipidemia Ketosis Splenomegaly Generalized hypotonia Jaundice Elevated hepatic transaminase Fatigue

Rare Symptoms - Less than 30% cases

Skeletal muscle atrophy Recurrent hypoglycemia Hepatic fibrosis Abdominal distention Hepatic steatosis Muscle weakness Hepatosplenomegaly Seizures Eruptive xanthomas Prolonged neonatal jaundice Hepatic failure Increased hepatic glycogen content Nausea and vomiting Pain Abnormality of the nervous system Motor delay Diarrhea Pancreatitis Hypertension Copper accumulation in liver Decreased serum ceruloplasmin Elevated alkaline phosphatase of bone origin Abnormal glycosylation Lipemia retinalis Increased LDL cholesterol concentration Cholestatic liver disease Long face Elevated serum creatine phosphokinase Downslanted palpebral fissures Ptosis Increased circulating chylomicron concentration Diabetes mellitus Epigastric pain Chronic pancreatitis Hyperlipoproteinemia Obesity Abnormality of the musculature Abnormality of the cardiovascular system Ketoacidosis Increased facial adipose tissue Loss of gluteal subcutaneous adipose tissue Increased adipose tissue around the neck Loss of subcutaneous adipose tissue in limbs Premature coronary artery atherosclerosis Absence of subcutaneous fat Acute pancreatitis Abdominal obesity Xanthomatosis Prominent superficial veins Insulin-resistant diabetes mellitus Epidermal acanthosis Lipoatrophy Truncal obesity Coronary artery atherosclerosis Glucose intolerance Hyperglycemia Hyperinsulinemia Lipodystrophy Polycystic ovaries Acanthosis nigricans Insulin resistance Episodic abdominal pain Myalgia Lethargy Bile duct proliferation Cholestasis Hepatitis Hemolytic anemia Small for gestational age Abnormality of the liver Anemia Hypoglycemic seizures Portal fibrosis Fasting hypoglycemia Abnormality of lipid metabolism Lactic acidosis Acidosis Muscular hypotonia Adrenal calcification Arteriosclerosis Esophageal varix Pruritus Hyperuricemia Postnatal growth retardation Hyperbilirubinemia Intrahepatic cholestasis Abdominal pain Muscle cramps Encephalopathy Cerebral atrophy Macrocephaly Increased muscle glycogen content Exercise-induced myalgia Myoglobinuria Exercise intolerance Muscle stiffness Progressive muscle weakness Nausea Hypoproteinemia Scarring Irritability Headache Vomiting Elevated plasma citrulline Hypermethioninemia Giant cell hepatitis Hypergalactosemia Decreased HDL cholesterol concentration Increased subcutaneous truncal adipose tissue


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