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Items: 1 to 20 of 41

1.

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
2.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
3.

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
4.

Syndrome

A characteristic symptom complex. [from MeSH]

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

Hemorrhage

Bleeding or escape of blood from a vessel. [from MeSH]

MedGen UID:
5503
Concept ID:
C0019080
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.

Much

A subjective response indicating that something is or was a large amount. [from NCI]

MedGen UID:
923949
Concept ID:
C4281574
Finding
8.

Stumbling

MedGen UID:
782433
Concept ID:
C3536730
Finding
9.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
10.

Eczema

Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. [from HPO]

MedGen UID:
504663
Concept ID:
CN000902
Finding
11.

Thrombocytopenia

MedGen UID:
472158
Concept ID:
CN130080
Disease or Syndrome
12.

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
13.

Myelosuppression

A laboratory test result indicating low production of erythrocytes, leukocytes and/or thrombocytes from the bone marrow. [from NCI]

MedGen UID:
163134
Concept ID:
C0854467
Finding
14.

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
15.

Immunodeficiency

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from MeSH]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
16.

Immunomodulator

agents of both drug and biological origin often used in immunotherapy to stimulate, potentiate, or depress the immune response; also used to inhibit or enhance specific subclasses of immunocytes. [from CRISP]

MedGen UID:
282900
Concept ID:
C1527392
Immunologic Factor; Pharmacologic Substance
17.

MabThera

MedGen UID:
231111
Concept ID:
C1314901
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
18.

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
19.

Rituxan

MedGen UID:
196479
Concept ID:
C0732355
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
20.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
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