Failure to thrive, and Hyperlipidemia

Diseases related with Failure to thrive and Hyperlipidemia

In the following list you will find some of the most common rare diseases related to Failure to thrive 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:

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 synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.

GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY Is also known as gsd 0a|gsd type 0a|glycogen storage disease type 0a|glycogen storage disease due to liver glycogen synthase deficiency|glycogenosis type 0a|hypoglycemia with deficiency of glycogen synthetase in the liver|gsd due to hepatic glycogen synthase deficiency|li

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY

Related symptoms:

  • Failure to thrive
  • Pain
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE ID

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

Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.

CHYLOMICRON RETENTION DISEASE Is also known as crd|anderson disease|cmrd

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Visual impairment
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about CHYLOMICRON RETENTION DISEASE

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Top 5 symptoms//phenotypes associated to Failure to thrive and Hyperlipidemia

Symptoms // Phenotype % cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypercholesterolemia Common - Between 50% and 80% cases
Hypoglycemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Hyperlipidemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Elevated hepatic transaminase Ketosis Fatigue Abdominal distention Decreased liver function Intellectual disability Vomiting Splenomegaly Hepatic steatosis Hepatic fibrosis Cirrhosis

Rare Symptoms - Less than 30% cases

Pain Irritability Small for gestational age Scarring Confusion Fasting hypoglycemia Recurrent hypoglycemia Hypoproteinemia Diarrhea Motor delay Pancreatitis Muscle weakness Generalized hypotonia Seizures Abnormality of the liver Increased hepatic glycogen content Abnormality of the cardiovascular system Congenital nephrotic syndrome Areflexia Retinopathy Acanthocytosis EMG: myopathic abnormalities Steatorrhea Impaired proprioception Fat malabsorption Myopathy Exercise-induced myalgia Visual impairment Increased muscle glycogen content Podocyte foot process effacement Myoglobinuria Exercise intolerance Muscle stiffness Progressive muscle weakness Muscle cramps Nausea Nausea and vomiting Hypocholesterolemia Edema Increased hepatocellular lipid droplets Nephrotic syndrome Delayed eruption of permanent teeth Mesangial hypercellularity Diffuse mesangial sclerosis Abnormality of the renal tubule Tubular atrophy Focal segmental glomerulosclerosis Neonatal respiratory distress Pyloric stenosis Hypoalbuminemia Stage 5 chronic kidney disease Abnormality of vitamin metabolism Respiratory tract infection Abnormality of the kidney Proteinuria Elevated amniotic fluid alpha-fetoprotein Gastroesophageal reflux Hypothyroidism Recurrent infections Renal insufficiency Steroid-resistant nephrotic syndrome Glomerulosclerosis Ketonuria Myalgia Jaundice Decreased HDL cholesterol concentration Intrahepatic cholestasis Abnormality of lipid metabolism Prolonged neonatal jaundice Hyperbilirubinemia Cholestasis Hepatitis Hemolytic anemia Abnormality of the nervous system Anemia Giant cell hepatitis Hypoglycemic seizures Portal fibrosis Bile duct proliferation Lactic acidosis Acidosis Muscular hypotonia Hyperuricemia Postnatal growth retardation Increased body weight Hypergalactosemia Hypermethioninemia Headache Abdominal pain Skeletal muscle atrophy Increased circulating chylomicron concentration Lipemia retinalis Eruptive xanthomas Acute pancreatitis Hyperlipoproteinemia Colitis Gastrointestinal hemorrhage Hepatosplenomegaly Elevated plasma branched chain amino acids Elevated plasma citrulline Ketotic hypoglycemia Postprandial hyperglycemia Abnormality of the gastrointestinal tract Neonatal hypoglycemia Drowsiness Glycosuria Hyperglycemia Increased serum lactate Lethargy Pallor Heavy proteinuria


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