Hepatomegaly, and Pancreatitis

Diseases related with Hepatomegaly and Pancreatitis

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Pancreatitis 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

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

CIDEC-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as lipodystrophy, familial partial, associated with cidec mutations|fpld5|cidec-related fpld

Related symptoms:

  • Hepatomegaly
  • Diabetes mellitus
  • Hepatic steatosis
  • Epidermal acanthosis
  • Hypertriglyceridemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CIDEC-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Other less relevant matches:

Related symptoms:

  • Failure to thrive
  • Pain
  • Hepatomegaly
  • Fatigue
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HYPERLIPOPROTEINEMIA, TYPE ID

FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency|hyperlipoproteinemia, type ib|familial apoc-ii deficiency|c-ii anapolipoproteinemia

Related symptoms:

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

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

Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE Is also known as fpld1|familial partial lipodystrophy type 1|lipodystrophy, familial partial, kobberling type

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Obesity
  • Diabetes mellitus
  • Hepatic steatosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE

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

GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Top 5 symptoms//phenotypes associated to Hepatomegaly and Pancreatitis

Symptoms // Phenotype % cases
Hypertriglyceridemia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Hyperlipidemia Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormality of the cardiovascular system Hepatic steatosis Abnormality of the liver Eruptive xanthomas

Rare Symptoms - Less than 30% cases

Acanthosis nigricans Polycystic ovaries Epidermal acanthosis Lipodystrophy Jaundice Insulin-resistant diabetes mellitus Loss of subcutaneous adipose tissue in limbs Abdominal pain Hearing impairment Loss of gluteal subcutaneous adipose tissue Chronic pancreatitis Pain Hepatocellular carcinoma Hypercholesterolemia Hyperlipoproteinemia Acute pancreatitis Lipemia retinalis Diabetes mellitus Increased circulating chylomicron concentration Pruritus Hepatic fibrosis Intermittent jaundice Global developmental delay Intrahepatic cholestasis with episodic jaundice Conjugated hyperbilirubinemia Renal insufficiency Hypertension Intrahepatic cholestasis Growth delay Lethargy Xanthomatosis Sepsis Cholestasis Cirrhosis Increased serum bile acid concentration Lipoatrophy Truncal obesity Sensorineural hearing impairment Ketoacidosis Increased subcutaneous truncal adipose tissue Increased facial adipose tissue Abnormality of the musculature Diarrhea Increased adipose tissue around the neck Premature coronary artery atherosclerosis Prominent superficial veins Abdominal obesity Absence of subcutaneous fat Neuronal loss in central nervous system Areflexia Hypoglycemia Spider hemangioma Hepatoblastoma Decreased glomerular filtration rate Xanthelasma Gout Focal segmental glomerulosclerosis Pulmonary arterial hypertension Metabolic acidosis Hematuria Lactic acidosis Delayed puberty Proteinuria Civatte bodies Pes cavus Vitamin E deficiency Fat malabsorption Thrombocytosis Steatorrhea Malnutrition Congenital sensorineural hearing impairment Hyperbilirubinemia Glucose intolerance Hepatic failure Ophthalmoplegia Carcinoma Rod-cone dystrophy Severe short stature Coronary artery atherosclerosis Neoplasm Hyperglycemia Nausea and vomiting Abnormality of lipid metabolism Calf muscle hypertrophy Renal tubular dysfunction Hemiplegia/hemiparesis Hyperammonemia Choreoathetosis Chorea Coma Neutropenia Thrombocytopenia Decreased serum leptin Dystonia Respiratory distress Optic atrophy Anemia Muscular hypotonia Intellectual disability Increased body weight Elevated hepatic transaminase Vomiting Oligomenorrhea Loss of facial adipose tissue Hyperinsulinemia Cognitive impairment Insulin resistance Obesity Abnormal thrombocyte morphology Biliary cirrhosis Abnormality of coagulation Reduced bone mineral density Hypocalcemia Malabsorption Delayed skeletal maturation Epigastric pain Marked muscular hypertrophy Episodic abdominal pain Abnormality of the nervous system Encephalopathy Cerebral atrophy Macrocephaly Colitis Gastrointestinal hemorrhage Fatigue Decreased adiponectin level Ketonemia


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