Anemia, and Hypertriglyceridemia

Diseases related with Anemia and Hypertriglyceridemia

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


Top matches:

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3


Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (OMIM )-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 Is also known as hplh3|hlh3

Related symptoms:

  • Anemia
  • Fever
  • Hepatosplenomegaly
  • Pancytopenia
  • Hypertriglyceridemia


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4


Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

Low match LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY


Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY Is also known as lcat deficiency|norum disease

Related symptoms:

  • Anemia
  • Peripheral neuropathy
  • Renal insufficiency
  • Proteinuria
  • Abnormality of the eye


SOURCES: OMIM MENDELIAN

More info about LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

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Other less relevant matches:

Low match NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY


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

Low match PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1


Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

Low match LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2


XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA ), and general dysregulation of the immune pathway, such as increased levels of IL18 (OMIM ). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Is also known as xiap deficiency

Related symptoms:

  • Anemia
  • Fever
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

Low match TANGIER DISEASE


Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about TANGIER DISEASE

Low match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Low match LYSOSOMAL ACID LIPASE DEFICIENCY


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

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2


Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Top 5 symptoms//phenotypes associated to Anemia and Hypertriglyceridemia

Symptoms // Phenotype % cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Hypertriglyceridemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Jaundice Hypofibrinogenemia Hemophagocytosis Decreased liver function Global developmental delay Generalized hypotonia Seizures Pancytopenia Increased serum ferritin Edema Abnormality of the liver Failure to thrive

Rare Symptoms - Less than 30% cases


Cirrhosis Hepatic steatosis Hepatitis Cholestasis Hepatic fibrosis Hypercholesterolemia Diarrhea Abnormality of lipid metabolism Hypoproteinemia Hepatic failure Immune dysregulation Erythema Irritability Vomiting Scarring Acute hepatic failure Proteinuria Hyperlipidemia Coma Abnormality of coagulation Hypertension Decreased HDL cholesterol concentration Corneal opacity Foam cells Atherosclerosis Renal insufficiency Hematuria Decreased serum complement factor B Abnormality of complement system Decreased serum complement factor I Enterocolitis Nephropathy Decreased serum complement factor H Short stature Hernia Weight loss Umbilical hernia Decreased level of thrombomodulin Schistocytosis Decreased serum complement C3 Hemiparesis Developmental regression Abnormal lactate dehydrogenase activity Azotemia Purpura Dysphasia Microangiopathic hemolytic anemia Abnormality of blood and blood-forming tissues Acute kidney injury Anuria Increased blood urea nitrogen Complement deficiency Reticulocytosis Elevated serum creatinine Hemolytic-uremic syndrome Low-grade fever Malabsorption Encephalitis Lymphadenopathy Tetraplegia Diplopia Meningitis Leukopenia Increased intracranial pressure Hypoalbuminemia Headache Hemiplegia Hyponatremia Increased CSF protein Papilledema Generalized edema Prolonged prothrombin time Increased total bilirubin Elevated hepatic transaminase Hypertonia Ascites Malnutrition Abdominal distention Pulmonary arterial hypertension Leukodystrophy Increased body weight Cachexia Portal hypertension Steatorrhea Ataxia Protuberant abdomen Esophageal varix Hyperlipoproteinemia Vacuolated lymphocytes Periportal fibrosis Bone-marrow foam cells Adrenal calcification Stage 5 chronic kidney disease Abdominal pain Abnormality of metabolism/homeostasis Pain Prolonged neonatal jaundice Intrahepatic cholestasis Hypergalactosemia Giant cell hepatitis Hypermethioninemia Elevated plasma citrulline Pruritus Small for gestational age Paresthesia Falls Polyneuropathy Abnormal blistering of the skin Eczema Cutaneous photosensitivity Hyperbilirubinemia Abnormality of the nervous system Inflammatory abnormality of the skin Myocardial infarction Granulocytopenia Reduced natural killer cell activity Neutropenia Peripheral neuropathy Abnormality of the eye Abnormality of the cardiovascular system Sensorimotor neuropathy Hypoglycemia Opacification of the corneal stroma Precocious atherosclerosis Normochromic anemia Corneal crystals Corneal arcus Growth delay Tetraparesis Cholelithiasis Cardiomyopathy Chronic noninfectious lymphadenopathy Peripheral axonal neuropathy Left ventricular hypertrophy Ectropion Syringomyelia Facial diplegia Hypocholesterolemia Progressive peripheral neuropathy Nail dystrophy Coronary artery stenosis Accelerated atherosclerosis Carotid artery stenosis Impaired thermal sensitivity Orange discoloured tonsils Cognitive impairment Dry skin Distal muscle weakness Microcytic anemia Decreased antibody level in blood Cholecystitis Immunodeficiency Recurrent infections Recurrent respiratory infections Respiratory tract infection Lymphoma Recurrent skin infections Dysgammaglobulinemia Acne Inflammation of the large intestine Colitis Abnormality of the gastrointestinal tract Aplastic anemia Folliculitis Erythema nodosum CSF pleocytosis



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