THC1
MCID: THR071
MIFTS: 53
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Thrombocytopenia 1 (THC1)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Thrombocytopenia 1:
Characteristics:Inheritance:
Thrombocytopenia 1:
X-linked recessive 57
X-Linked Thrombocytopenia with Normal Platelets:
X-linked recessive 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
allelic to wiskott-aldrich syndrome and severe congenital x-linked neutropenia Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases Anatomical: Blood diseases Neuronal diseases Immune diseases Bone diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 X-linked thrombocytopenia is a bleeding disorder that primarily affects males. This condition is characterized by a blood cell abnormality called thrombocytopenia, which is a shortage in the number of blood cells involved in clotting (platelets). Affected individuals often have abnormally small platelets as well, a condition called microthrombocytopenia. X-linked thrombocytopenia can cause individuals to bruise easily or have episodes of prolonged bleeding following minor trauma or even in the absence of injury (spontaneous bleeding). Some people with this condition experience spontaneous bleeding in the brain (cerebral hemorrhage), which can cause brain damage that can be life-threatening.Some people with X-linked thrombocytopenia also have patches of red, irritated skin (eczema) or an increased susceptibility to infections. In severe cases, additional features can develop, such as cancer or autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. It is unclear, however, if people with these features have X-linked thrombocytopenia or a more severe disorder with similar signs and symptoms called Wiskott-Aldrich syndrome.Some people have a mild form of the disorder called intermittent thrombocytopenia. These individuals have normal platelet production at times with episodes of thrombocytopenia. MalaCards based summary: Thrombocytopenia 1, also known as xlt, is related to thrombocytopenia with beta-thalassemia, x-linked and wiskott-aldrich syndrome, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 1 is WAS (WASP Actin Nucleation Promoting Factor), and among its related pathways/superpathways are Signaling events mediated by HDAC Class I and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Liver Extracts and Aldesleukin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, brain and lung, and related phenotypes are congenital thrombocytopenia and decreased mean platelet volume GARD: 19 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. UniProtKB/Swiss-Prot: 73 A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. OMIM®: 57 Hereditary nonsyndromic thrombocytopenia is characterized by decreased numbers of platelets and bleeding tendency (summary by Villa et al., 1995). (313900) (Updated 08-Dec-2022) Wikipedia: 75 X-linked thrombocytopenia, also referred to as XLT or thrombocytopenia 1, is an inherited clotting... more... |
Human phenotypes related to Thrombocytopenia 1:30 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:313900 (Updated 08-Dec-2022)UMLS symptoms related to Thrombocytopenia 1:petechiae of skin |
Drugs for Thrombocytopenia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
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Organs/tissues related to Thrombocytopenia 1:
MalaCards :
Myeloid,
Brain,
Lung,
Liver,
Skin,
Bone Marrow,
Bone
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Articles related to Thrombocytopenia 1:(show top 50) (show all 332)
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ClinVar genetic disease variations for Thrombocytopenia 1:5 (show top 50) (show all 235)
UniProtKB/Swiss-Prot genetic disease variations for Thrombocytopenia 1:73
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Search
GEO
for disease gene expression data for Thrombocytopenia 1.
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Cellular components related to Thrombocytopenia 1 according to GeneCards Suite gene sharing:
Biological processes related to Thrombocytopenia 1 according to GeneCards Suite gene sharing:(show all 11)
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