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Items: 1 to 20 of 27

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.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Spatial Concept
3.

Probable diagnosis

MedGen UID:
568163
Concept ID:
C0332148
Finding
4.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
5.

Immunodeficiency without anhidrotic ectodermal dysplasia

MedGen UID:
337162
Concept ID:
C1845117
Disease or Syndrome
6.

Decreased mean platelet volume

Average platelet volume below the lower limit of the normal reference interval. [from HPO]

MedGen UID:
322140
Concept ID:
C1833182
Finding
7.

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
8.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
9.

Deficiency of glucose-6-phosphate dehydrogenase

A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. [from MeSH]

MedGen UID:
473706
Concept ID:
C2939465
Disease or Syndrome
10.

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
11.

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
12.

Neutropenic disorder

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

MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome
13.

Lymphopenia

A reduced number of lymphocytes in the blood. [from HPO]

MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
14.

White blood cell disorder

Disordered formation of various types of leukocytes or an abnormal accumulation or deficiency of these cells. [from MeSH]

MedGen UID:
7325
Concept ID:
C0023510
Disease or Syndrome
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.

Haemorrhagic disorders

Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS). [from MeSH]

MedGen UID:
6799
Concept ID:
C0019087
Disease or Syndrome
17.

Inborn error of metabolism

A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [from NCI]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
18.

Leukopenia

A decrease in the number of LEUKOCYTES in a blood sample below the normal range (LEUKOCYTE COUNT less than 4000). [from MeSH]

MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
19.

Hematologic disease

An abnormality of the hematopoietic system. [from HPO]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
20.

Carbohydrate Metabolism, Inborn Errors

Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
2825
Concept ID:
C0007001
Disease or Syndrome
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