Hepatomegaly, and Cholestasis
Diseases related with Hepatomegaly and Cholestasis
In the following list you will find some of the most common rare diseases related to Hepatomegaly and Cholestasis that can help you solving undiagnosed cases.
Medium match NEPHRONOPHTHISIS 19; NPHP19
Medium match CYANOSIS, TRANSIENT NEONATAL; TNCY
Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caused by a defect in the fetal hemoglobin chain, which causes reduced affinity for oxygen due to steric inhibition of oxygen binding and/or due to increased oxidation of the fetal hemoglobin molecule to methemoglobin (Hb FM), which has decreased oxygen-binding capacity. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain (HBB ) is produced and replaces the fetal gamma-globin chain (summary by Crowley et al., 2011).Related symptoms:
More info about CYANOSIS, TRANSIENT NEONATAL; TNCY
Medium match DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2
In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015).For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (OMIM ).
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2 Is also known as desiccytosis gardos|xerocytosis gardosRelated symptoms:
More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 2; DHS2
Other less relevant matches:
Medium match PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2
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 deficiencyRelated symptoms:
- Hepatic failure
More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2
Medium match ADULT-ONSET AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA
Adult onset autosomal recessive sideroblastic anemia or GLRX5-related sideroblastic anemia is a very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.
ADULT-ONSET AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA Is also known as glrx5-related sideroblastic anemiaRelated symptoms:
More info about ADULT-ONSET AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA
Medium match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5
More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5
Medium match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6
- Intellectual disability
- Global developmental delay
- Delayed speech and language development
More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6
Medium match DUBIN-JOHNSON SYNDROME
Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.
DUBIN-JOHNSON SYNDROME Is also known as hyperbilirubinemia ii|hblrdj|hyperbilirubinemia, dubin-johnson type|hyperbilirubinemia type 2|dubin-sprinz disease|sprinz-nelson syndromeRelated symptoms:
- Abdominal pain
More info about DUBIN-JOHNSON SYNDROME
Medium 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|pfic3Related symptoms:
- Failure to thrive
More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3
Medium match HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR
The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS ) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by van de Steeg et al., 2012).
HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR Is also known as rotor syndromeRelated symptoms:
- Abnormality of the skeletal system
- Abdominal pain
More info about HYPERBILIRUBINEMIA, ROTOR TYPE; HBLRR
Top 5 symptoms//phenotypes associated to Hepatomegaly and Cholestasis
|Symptoms // Phenotype||% cases|
|Jaundice||Common - Between 50% and 80% cases|
|Hepatosplenomegaly||Common - Between 50% and 80% cases|
|Splenomegaly||Uncommon - Between 30% and 50% cases|
|Anemia||Uncommon - Between 30% and 50% cases|
|Conjugated hyperbilirubinemia||Uncommon - Between 30% and 50% cases|
Other less frequent symptoms
Patients with Hepatomegaly and Cholestasis. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% casesElevated hepatic transaminase Hepatic failure Fever Hyperbilirubinemia Cirrhosis
Rare Symptoms - Less than 30% casesBile duct proliferation Portal fibrosis Portal hypertension Intrahepatic cholestasis Steatorrhea Pruritus Malabsorption Fatigue Abdominal pain Abnormality of coagulation Cholelithiasis Hypertension Abnormal urinary color Abnormality of the gastric mucosa Reticulocytosis Abnormality of the liver Hepatic fibrosis Biliary tract abnormality Ataxia Intellectual disability, mild Gait ataxia Abnormality of the nervous system Delayed speech and language development Dysmetria Vitamin D deficiency Hepatic steatosis Slurred speech Fat malabsorption Vertical supranuclear gaze palsy Intellectual disability Hypolipidemia Pain Intermittent jaundice Dark urine Failure to thrive Diarrhea Abnormality of the skeletal system Global developmental delay Anisocytosis Iron deficiency anemia Normocytic anemia Stage 5 chronic kidney disease Nephronophthisis Cyanosis Methemoglobinemia Pallor Hemolytic anemia Dehydration Prolonged neonatal jaundice Macrocytic anemia Increased mean corpuscular volume Acanthocytosis Stomatocytosis Chronic hemolytic anemia Abnormality of the coagulation cascade Congenital hemolytic anemia Anisopoikilocytosis Increased mean corpuscular hemoglobin concentration Elevated alkaline phosphatase Type II diabetes mellitus Microcytic anemia Increased serum ferritin Decreased mean corpuscular volume Sideroblastic anemia Erythroid hyperplasia Elevated hepatic iron concentration Pancytopenia Abnormality of skin pigmentation
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