Failure to thrive, and Jaundice

Diseases related with Failure to thrive and Jaundice

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


Top matches:

High match MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15


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

High match PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3


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

High match PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5


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

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Other less relevant matches:

High match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

High match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 3


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

High match NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN 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

High match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 2


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

High match CONGENITAL INTRINSIC FACTOR DEFICIENCY


Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.

CONGENITAL INTRINSIC FACTOR DEFICIENCY Is also known as intrinsic factor deficiency|ifd|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|congenital pernicious anemia|gastric intrinsic factor deficiency|pernicious anemia, congenital, due to defect of intrinsic factor

Related symptoms:

  • Intellectual disability
  • Failure to thrive
  • Anemia
  • Fatigue
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRINSIC FACTOR DEFICIENCY

High match GALACTOSE EPIMERASE DEFICIENCY


Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

High match ISOLATED BILIARY ATRESIA


Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.

ISOLATED BILIARY ATRESIA Is also known as isolated atresia of bile ducts|non-syndromic biliary atresia

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED BILIARY ATRESIA

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

Symptoms // Phenotype % cases
Cirrhosis Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Cholestasis Common - Between 50% and 80% cases
Elevated hepatic transaminase Common - Between 50% and 80% cases
Hepatic failure Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intrahepatic cholestasis

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Hyperbilirubinemia Conjugated hyperbilirubinemia Abnormality of the coagulation cascade Hepatitis Diarrhea Abnormality of the liver Elevated alkaline phosphatase Malabsorption Pruritus Giant cell hepatitis Growth delay Portal fibrosis Hypoglycemia Hepatic steatosis

Rare Symptoms - Less than 30% cases


Hypergalactosemia Hepatosplenomegaly Steatorrhea Biliary tract abnormality Acholic stools Intellectual disability Ascites Neonatal cholestatic liver disease Global developmental delay Anemia Bile duct proliferation Portal hypertension Hypertension Prolonged prothrombin time Vomiting Intellectual disability, severe Macrocytic anemia Weight loss Delayed speech and language development Abnormality of the stomach Feeding difficulties Cataract Muscular hypotonia Sensorineural hearing impairment Hearing impairment Generalized hypotonia Megaloblastic erythroid hyperplasia Absence of intrinsic factor Malabsorption of Vitamin B12 Aciduria Megaloblastic anemia Increased mean corpuscular volume Nausea and vomiting Intestinal malrotation Aminoaciduria Increased body weight Extrahepatic biliary duct atresia Intrahepatic biliary atresia Unconjugated hyperbilirubinemia Increased total bilirubin Dark urine Biliary atresia Asplenia Polysplenia Right ventricular hypertrophy Situs inversus totalis Delayed gross motor development Ventricular hypertrophy Leukopenia Abnormal cardiac septum morphology Scarring Irritability Patent ductus arteriosus Ventricular septal defect Impairment of galactose metabolism Galactosuria Abnormality of the immune system Hypoproteinemia Pancytopenia Neoplasm Congenital hepatic fibrosis Abnormality of coagulation Gastrointestinal hemorrhage Intermittent jaundice Fat malabsorption Hepatocellular carcinoma Coma Carcinoma Short stature Small for gestational age Intraventricular hemorrhage Micronodular cirrhosis Hyperammonemia Edema Fever Microvesicular hepatic steatosis Hypoalbuminemia Intrauterine growth retardation Abnormality of the nervous system Hemolytic anemia Sensory impairment Rickets Paresthesia Confusion Proteinuria Depressivity Abnormality of metabolism/homeostasis Fatigue Chronic hepatic failure Hypertyrosinemia Abnormal bleeding Hypertriglyceridemia Osteoporosis Elevated plasma citrulline Hypermethioninemia Decreased HDL cholesterol concentration Abnormality of lipid metabolism Prolonged neonatal jaundice Hypercholesterolemia Hepatic fibrosis Decreased liver function Atretic gallbladder



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