Failure to thrive, and Elevated hepatic transaminase

Diseases related with Failure to thrive and Elevated hepatic transaminase

In the following list you will find some of the most common rare diseases related to Failure to thrive and Elevated hepatic transaminase 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

Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.

HYPERMETHIONINEMIA DUE TO GLYCINE N-METHYLTRANSFERASE DEFICIENCY Is also known as glycine n-methyltransferase deficiency|gnmt deficiency|hypermethioninemia due to gnmt deficiency

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Elevated hepatic transaminase
  • Respiratory tract infection
  • Abnormality of the liver


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPERMETHIONINEMIA DUE TO GLYCINE N-METHYLTRANSFERASE DEFICIENCY

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:

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

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19

Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9 Is also known as coxpd9

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9

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

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

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

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

Top 5 symptoms//phenotypes associated to Failure to thrive and Elevated hepatic transaminase

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Abnormality of the liver Common - Between 50% and 80% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Jaundice Uncommon - Between 30% and 50% cases
Hepatic failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Hypoglycemia Growth delay Cholestasis Abnormality of the coagulation cascade Global developmental delay Short stature Intrahepatic cholestasis Hypertriglyceridemia Hepatic steatosis

Rare Symptoms - Less than 30% cases

Diarrhea Hepatosplenomegaly Feeding difficulties Generalized hypotonia Pruritus Conjugated hyperbilirubinemia Bile duct proliferation Hyperbilirubinemia Ascites Portal fibrosis Lactic acidosis Acidosis Hepatic fibrosis Hypercholesterolemia Hyperlipidemia Ketosis Decreased liver function Motor delay Intellectual disability Intraventricular hemorrhage Elevated alkaline phosphatase Hepatitis Gastrointestinal hemorrhage Hyperammonemia Micronodular cirrhosis Prolonged prothrombin time Steatorrhea Edema Abnormality of coagulation Intrauterine growth retardation Congenital hepatic fibrosis Biliary tract abnormality Vomiting Neonatal cholestatic liver disease Seizures Muscle weakness Muscular hypotonia Fatigue Abdominal distention Recurrent hypoglycemia Fasting hypoglycemia Acholic stools Malabsorption Abnormality of the cardiovascular system Severe lactic acidosis Hyperuricemia Hypoalbuminemia Microvesicular hepatic steatosis Hypermethioninemia Respiratory distress Hypertyrosinemia Gastroesophageal reflux Neonatal hypotonia Febrile seizures Cardiomyopathy Portal hypertension Dyspnea Hypertrophic cardiomyopathy Increased serum lactate Hyperalaninemia Hypertension Fever Respiratory tract infection Pancreatitis Increased body weight Hypoglycemic seizures


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