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Items: 1 to 20 of 35

1.

Thrombocytopenia

A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. [from NCI]

MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
2.

Wiskott-Aldrich syndrome

The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities. [from GTR]

MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
3.

IgA

IgA is the immunoglobulin subclass that is associated with antibody-mediated mucosal immunity. It is secreted as dimers into the mucosa and is the most effective isotype at fixing complement by the alternative pathway, even though it lacks the ability to fix complement by the classical pathway. There are two subtypes in the human - IgA1 and IgA2. [from NCI]

MedGen UID:
442957
Concept ID:
C2825347
Immunologic Factor; Pharmacologic Substance
4.

Increased IgA level

An abnormally increased level of immunoglobulin A in blood. [from HPO]

MedGen UID:
66800
Concept ID:
C0239984
Finding
5.

sequelae

MedGen UID:
116734
Concept ID:
C0243088
Pathologic Function
6.

Eczematous rash

A form of dermatitis characterized by red, itchy, scaly, or crusty patches that can be chronic or intermittent.(NICHD) [from NCI]

MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
7.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys. [from HPO]

MedGen UID:
898017
Concept ID:
C1408258
Finding
8.

Platelet volume

MedGen UID:
736607
Concept ID:
C1562590
Finding
9.

Thrombocytopenia

MedGen UID:
472158
Concept ID:
CN130080
Disease or Syndrome
10.

Autoimmune interstitial lung, joint, and kidney disease

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015). [from GTR]

MedGen UID:
452265
Concept ID:
C0231330
Temporal Concept
11.

Thrombocytopenia, X-linked

The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities. [from GTR]

MedGen UID:
326416
Concept ID:
C1839163
Disease or Syndrome
12.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
13.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
14.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
15.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
16.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
17.

Blood Coagulation Disorders, Inherited

Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. [from MeSH]

MedGen UID:
163105
Concept ID:
C0852077
Disease or Syndrome
18.

Immunoglobulin A

Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. Secretory IgA (IMMUNOGLOBULIN A, SECRETORY) is the main immunoglobulin in secretions. [from MeSH]

MedGen UID:
43820
Concept ID:
C0020835
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
19.

Disorder of urinary tract

Disorders of any part of the urologic system. [from NCI]

MedGen UID:
21791
Concept ID:
C0042075
Disease or Syndrome
20.

Neutropenic disorder

A decrease in the number of NEUTROPHILS found in the blood. [from MeSH]

MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome
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