Failure to thrive, and Hepatic fibrosis

Diseases related with Failure to thrive and Hepatic fibrosis

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

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

Other less relevant matches:

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

Medium match MPI-CDG

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ARGININOSUCCINIC ACIDURIA

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Top 5 symptoms//phenotypes associated to Failure to thrive and Hepatic fibrosis

Symptoms // Phenotype % cases
Hepatomegaly Very Common - Between 80% and 100% cases
Cirrhosis Common - Between 50% and 80% cases
Abnormality of the liver Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Hepatic failure Generalized hypotonia Growth delay Decreased liver function Hepatosplenomegaly Global developmental delay Jaundice Anemia Hypertriglyceridemia Hepatic steatosis Vomiting Intellectual disability Hypoglycemia Muscular hypotonia Hypertension Hypercholesterolemia Edema Intrahepatic cholestasis Elevated hepatic transaminase Steatorrhea

Rare Symptoms - Less than 30% cases

Ascites Increased body weight Scarring Hyperbilirubinemia Abnormality of lipid metabolism Hypoproteinemia Coma Malabsorption Pancreatitis Chronic diarrhea Malnutrition Generalized edema Congenital hepatic fibrosis Dilated cardiomyopathy Cardiomyopathy Portal hypertension Cholestasis Hyperlipidemia Gastrointestinal hemorrhage Abnormality of the coagulation cascade Pruritus Hepatitis Esophageal varix Seizures Muscle weakness Abdominal distention Skeletal muscle atrophy Peripheral neuropathy Flexion contracture Episodic ammonia intoxication Oroticaciduria EEG abnormality Irritability Hyperglutaminemia Protein avoidance Talipes equinovarus Hypoargininemia Respiratory alkalosis Hyperactivity Myopathy Feeding difficulties in infancy Trichorrhexis nodosa Attention deficit hyperactivity disorder Hyperventilation Aminoaciduria Intellectual disability, progressive Tachypnea Hyperammonemia Febrile seizures Brittle hair Hyporeflexia Abnormal hair quantity Aciduria Increased reactive oxygen species production Lethargy Alkalosis Cerebral edema Dry hair Ridged fingernail Congestive heart failure Decreased fetal movement Dyspnea Leukopenia Thrombocytopenia Cerebellar hypoplasia Osteoporosis Hyperkeratosis Nail dystrophy Abnormality of skin pigmentation Nail dysplasia Bone marrow hypocellularity Palmoplantar hyperkeratosis Microcephaly Pulmonary fibrosis Premature graying of hair Aseptic necrosis Urethral stricture Toenail dysplasia Pulmonary infiltrates Aplastic anemia Esophageal stricture Abnormality of the dentition Limb joint contracture Polyhydramnios Hydrops fetalis Difficulty walking Proximal muscle weakness Hyperlordosis Muscular dystrophy Arthrogryposis multiplex congenita Limb muscle weakness Sudden cardiac death Waddling gait Exercise intolerance Tubulointerstitial fibrosis Reduced tendon reflexes Limb-girdle muscular dystrophy Akinesia Myopathic facies Difficulty climbing stairs Encephalopathy Exertional dyspnea Fetal akinesia sequence Alopecia Increased serum bile acid concentration Cognitive impairment Abnormal intestine morphology Hypergalactosemia Giant cell hepatitis Hypermethioninemia Elevated plasma citrulline Apnea Abnormal bleeding Lymphedema Hypoalbuminemia Prolonged neonatal jaundice Hyperinsulinemic hypoglycemia Villous atrophy Protein-losing enteropathy Abnormal thrombosis Enterocolitis Type I transferrin isoform profile Microvesicular hepatic steatosis Decreased HDL cholesterol concentration Hemolytic anemia Secretory diarrhea Fatigue Abnormality of the cardiovascular system Elevated alkaline phosphatase Abnormality of coagulation Biliary tract abnormality Acholic stools Neonatal cholestatic liver disease Motor delay Acidosis Small for gestational age Lactic acidosis Ketosis Recurrent hypoglycemia Fasting hypoglycemia Bile duct proliferation Portal fibrosis Hypoglycemic seizures Abnormality of the nervous system Intestinal lymphangiectasia Reduced antithrombin III activity Ataxia Cachexia Hernia Weight loss Umbilical hernia Developmental regression Pulmonary arterial hypertension Leukodystrophy Atherosclerosis Protuberant abdomen Intrahepatic cholestasis with episodic jaundice Acute hepatic failure Foam cells Hyperlipoproteinemia Vacuolated lymphocytes Low-grade fever Periportal fibrosis Bone-marrow foam cells Adrenal calcification Fever Civatte bodies Reduced factor XI activity Carcinoma Lymphangiectasis Hearing impairment Sensorineural hearing impairment Areflexia Pes cavus Severe short stature Rod-cone dystrophy Ophthalmoplegia Vitamin E deficiency Sepsis Neuronal loss in central nervous system Congenital sensorineural hearing impairment Hepatocellular carcinoma Thrombocytosis Conjugated hyperbilirubinemia Fat malabsorption Intermittent jaundice Reticulated skin pigmentation


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