Failure to thrive, and Cholestasis

Diseases related with Failure to thrive and Cholestasis

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

Top matches:

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Intrauterine growth retardation
  • Jaundice
  • Hypoglycemia


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15

Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3 Is also known as cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|mdr3 deficiency|pfic3

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3

Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.

FAMILIAL HYPERCHOLANEMIA Is also known as hereditary hypercholanemia

Related symptoms:

  • Failure to thrive
  • Abnormality of the liver
  • Pruritus
  • Malabsorption
  • Hepatitis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL HYPERCHOLANEMIA

Other less relevant matches:

Enteric anendocrinosis is a very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.

ENTERIC ANENDOCRINOSIS Is also known as enteric anendocrinosis|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Acidosis
  • Malabsorption


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ENTERIC ANENDOCRINOSIS

Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (OMIM ).

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5 Is also known as nr1h4 deficiency|pfic5

Related symptoms:

  • Failure to thrive
  • Edema
  • Jaundice
  • Hypoglycemia
  • Elevated hepatic transaminase


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5

Related symptoms:

  • Short stature
  • Neoplasm
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis (see this term) characterized by severe neonatal cholestatic liver disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3 Is also known as basd3|oxysterol 7-alpha-hydroxylase deficiency

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Jaundice


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3

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

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

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 Failure to thrive and Cholestasis

Symptoms // Phenotype % cases
Cirrhosis Common - Between 50% and 80% cases
Jaundice Common - Between 50% and 80% cases
Intrahepatic cholestasis Common - Between 50% and 80% cases
Elevated hepatic transaminase Common - Between 50% and 80% cases
Abnormality of the liver Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hepatic failure

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Abnormality of the coagulation cascade Hepatitis Diarrhea Malabsorption Splenomegaly Pruritus Hyperbilirubinemia Hepatic steatosis Conjugated hyperbilirubinemia Elevated alkaline phosphatase Giant cell hepatitis Steatorrhea Hypoglycemia

Rare Symptoms - Less than 30% cases

Neonatal cholestatic liver disease Acidosis Vomiting Anemia Fat malabsorption Biliary tract abnormality Rickets Portal fibrosis Ascites Decreased liver function Growth delay Hepatosplenomegaly Prolonged prothrombin time Portal hypertension Hepatic fibrosis Hypertriglyceridemia Hypercholesterolemia Hemolytic anemia Prolonged neonatal jaundice Abnormality of lipid metabolism Hypoproteinemia Decreased HDL cholesterol concentration Hypergalactosemia Small for gestational age Cough Hypermethioninemia Hypothyroidism Severe failure to thrive Interstitial pulmonary abnormality Clubbing Aminoaciduria Abnormal lung morphology Lactic acidosis Dyspnea Respiratory distress Elevated plasma citrulline Respiratory insufficiency Motor delay Generalized hypotonia Chronic hepatic failure Hypertyrosinemia Abnormal bleeding Osteoporosis Abnormality of the nervous system Micronodular cirrhosis Global developmental delay Type I diabetes mellitus Intrauterine growth retardation Hypoalbuminemia Microvesicular hepatic steatosis Hypertension Fever Bile duct proliferation Chronic hepatitis Vitamin K deficiency Increased serum bile acid concentration Metabolic acidosis Sepsis Dehydration Decreased body weight Cholestatic liver disease Acholic stools Hyperchloremic metabolic acidosis Abnormal cellular phenotype Edema Hyperammonemia Intraventricular hemorrhage Short stature Neoplasm Carcinoma Coma Hepatocellular carcinoma Intermittent jaundice Gastrointestinal hemorrhage Abnormality of coagulation Congenital hepatic fibrosis Alveolar proteinosis


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