Hepatomegaly, and Malabsorption

Diseases related with Hepatomegaly and Malabsorption

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

Top matches:

Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2 Is also known as pfic2|bsep deficiency

Related symptoms:

  • Hepatomegaly
  • Jaundice
  • Hepatosplenomegaly
  • Pruritus
  • Hepatic failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

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

Other less relevant matches:

High match WOLMAN DISEASE

Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease (see this term). The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about WOLMAN DISEASE

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

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 AA AMYLOIDOSIS

Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

AA AMYLOIDOSIS Is also known as secondary amyloidosis|inflammatory amyloidosis|reactive amyloidosis

Related symptoms:

  • Hepatomegaly
  • Vomiting
  • Abnormal heart morphology
  • Abdominal pain
  • Hypothyroidism


SOURCES: ORPHANET MENDELIAN

More info about AA AMYLOIDOSIS

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid|trihydroxycoprostanic acid in bile

Related symptoms:

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months (Summerskill and Walshe, 1959; Schapiro and Isselbacher, 1963; Brenard et al., 1989).Tygstrup et al. (1999) stated that referring to this disorder as 'benign' is a misnomer, because the disease has an impact on the quality of life in some patients. They preferred the term 'recurrent familial intrahepatic cholestasis.' Genetic Heterogeneity of Benign Recurrent Intrahepatic CholestasisSee also BRIC2 (OMIM ), caused by mutation in the ABCB11 gene (OMIM ) on chromosome 2q24.

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 Is also known as summerskill syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Neoplasm
  • Failure to thrive
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Malabsorption

Symptoms // Phenotype % cases
Cholestasis Common - Between 50% and 80% cases
Cirrhosis Common - Between 50% and 80% cases
Intrahepatic cholestasis Common - Between 50% and 80% cases
Hepatic failure Common - Between 50% and 80% cases
Jaundice Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Malabsorption. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Steatorrhea

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Pruritus Elevated hepatic transaminase Elevated alkaline phosphatase Hepatitis Diarrhea Giant cell hepatitis Fat malabsorption Abnormality of the coagulation cascade Abnormality of the liver Conjugated hyperbilirubinemia Portal fibrosis Hepatosplenomegaly

Rare Symptoms - Less than 30% cases

Hyperbilirubinemia Fever Malnutrition Adrenal insufficiency Intermittent jaundice Abnormality of coagulation Neoplasm Global developmental delay Biliary tract abnormality Short stature Neonatal cholestatic liver disease Hepatic steatosis Abnormal renal physiology Enlarged kidney Abnormality of the kidney Nausea Acute kidney injury Venous thrombosis Nephropathy Amyloidosis Atrioventricular block Nephrotic syndrome Chronic diarrhea Chronic kidney disease Ventricular tachycardia Hypotension Abnormal oral mucosa morphology Abnormal echocardiogram Hearing impairment Increased serum bile acid concentration Abnormal thrombocyte morphology Biliary cirrhosis Reduced bone mineral density Pancreatitis Hypocalcemia Delayed skeletal maturation Cognitive impairment Prolonged neonatal jaundice Hypothyroidism Hypergonadotropic hypogonadism Single transverse palmar crease Depressivity Frontal bossing Epicanthus Hepatic amyloidosis Cardiac amyloidosis Abnormal cardiac ventricle morphology Renal amyloidosis Proteinuria Abnormality of the nervous system Abdominal pain Hypertension Ascites Nausea and vomiting Anemia Growth delay Bile duct proliferation Portal hypertension Intellectual disability Ataxia Cachexia Hypolipidemia Vitamin D deficiency Vertical supranuclear gaze palsy Delayed speech and language development Slurred speech Intellectual disability, mild Dysmetria Abdominal distention Esophageal varix Abnormal heart morphology Osteoporosis Vomiting Chronic hepatic failure Hypertyrosinemia Prolonged prothrombin time Rickets Gait ataxia Abnormal bleeding Acholic stools Bone-marrow foam cells Congenital hepatic fibrosis Gastrointestinal hemorrhage Cholelithiasis Hepatocellular carcinoma Coma Carcinoma Adrenal calcification Intrahepatic cholestasis with episodic jaundice


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