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1.

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age; Autoimmune disease, mostly directed toward blood cells; and Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases in many affected individuals. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS is characterized by severe lymphoproliferation before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, keeping in mind that those with somatic pathogenic variants need to be better characterized, particularly with regard to the risk for lymphoma. [from GeneReviews]

MedGen UID:
231300
Concept ID:
C1328840
Disease or Syndrome
2.

Thrombocytopenia

A reduction in the number of circulating thrombocytes. [from HPO]

MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome; Finding
3.

Splenomegaly

Enlargement of the spleen. [from MeSH]

MedGen UID:
52469
Concept ID:
C0038002
Finding
4.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
5.

Autoimmune hemolytic anemia

An autoimmune form of hemolytic anemia. [from HPO]

MedGen UID:
1918
Concept ID:
C0002880
Disease or Syndrome
6.

Anemia

If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body. Anemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include. -Heavy periods. -Pregnancy. -Ulcers. -Colon polyps or colon cancer. -Inherited disorders. -A diet that does not have enough iron, folic acid or vitamin B12. -Blood disorders such as sickle cell anemia and thalassemia, or cancer. -Aplastic anemia, a condition that can be inherited or acquired. -G6PD deficiency, a metabolic disorder. Anemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache. Your doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
7.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
8.

Infections

MedGen UID:
833099
Concept ID:
CN228891
Finding
9.

Lymphoproliferative syndrome

MedGen UID:
799717
Concept ID:
CN201619
Disease or Syndrome
10.

Autoimmune thrombocytopenia

An autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia. [from SNOMEDCT_US]

MedGen UID:
584986
Concept ID:
C0398650
Disease or Syndrome
11.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
12.

Visual Suppression

MedGen UID:
526147
Concept ID:
C0221103
Pathologic Function
13.

Combined immunodeficiency

MedGen UID:
505803
Concept ID:
CN004782
Finding
14.

Autoimmune hemolytic anemia

An autoimmune form of hemolytic anemia. [from HPO]

MedGen UID:
504990
Concept ID:
CN001709
Finding
15.

Hemolytic anemia

A type of anemia caused by premature destruction of red blood cells (hemolysis). [from HPO]

MedGen UID:
504983
Concept ID:
CN001698
Finding
16.

Thrombocytopenia

MedGen UID:
472158
Concept ID:
CN130080
Disease or Syndrome
17.

Autoimmune lymphoproliferative syndrome, type 2

Autoimmune lymphoproliferative syndrome (ALPS), caused by defective lymphocyte homeostasis, is characterized by: Non-malignant lymphoproliferation (lymphadenopathy, hepatosplenomegaly with or without hypersplenism) that often improves with age; Autoimmune disease, mostly directed toward blood cells; and Lifelong increased risk for both Hodgkin and non-Hodgkin lymphoma. In ALPS-FAS (the most common and best-characterized type of ALPS, associated with heterozygous germline pathogenic variants in FAS), non-malignant lymphoproliferation typically manifests in the first years of life, inexplicably waxes and wanes, and then often decreases without treatment in the second decade of life; however, neither splenomegaly nor the overall expansion of lymphocyte subsets in peripheral blood decreases in many affected individuals. Although autoimmunity is often not present at the time of diagnosis or at the time of the most extensive lymphoproliferation, autoantibodies can be detected before autoimmune disease manifests clinically. ALPS-FAS caused by homozygous or compound heterozygous (biallelic) pathogenic variants in FAS is characterized by severe lymphoproliferation before, at, or shortly after birth, and usually results in death at an early age. ALPS-sFAS, resulting from somatic FAS pathogenic variants in selected cell populations, notably the alpha/beta double-negative T cells (a/ß-DNT cells), appears to be similar to ALPS-FAS resulting from heterozygous germline pathogenic variants in FAS, keeping in mind that those with somatic pathogenic variants need to be better characterized, particularly with regard to the risk for lymphoma. [from GeneReviews]

MedGen UID:
349065
Concept ID:
C1858968
Disease or Syndrome
18.

Immune suppression

MedGen UID:
326692
Concept ID:
C1840264
Disease or Syndrome
19.

Combined immunodeficiency

A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. [from NCI]

MedGen UID:
141668
Concept ID:
C0494261
Disease or Syndrome
20.

Autoimmune thrombocytopenia

The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. [from HPO]

MedGen UID:
116621
Concept ID:
C0242584
Disease or Syndrome
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