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MCID: THR111
MIFTS: 32
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Thrombocytopenia 3
Categories:
Genetic diseases, Blood diseases, Rare diseases, Immune diseases
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MalaCards integrated aliases for Thrombocytopenia 3:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in first months or years of life two unrelated consanguineous families have been reported (last curated april 2017) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases |
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OMIM
:
57
Thrombocytopenia-3 is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. (273900)
MalaCards based summary : Thrombocytopenia 3, also known as thc3, is related to thrombocythemia 1 and amegakaryocytic thrombocytopenia, congenital, and has symptoms including petechiae of skin An important gene associated with Thrombocytopenia 3 is FYB1 (FYN Binding Protein 1), and among its related pathways/superpathways are Regulation of IFNA signaling and NF-kappaB Signaling. The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are abnormal bleeding and abnormality of the skeletal system UniProtKB/Swiss-Prot : 75 Thrombocytopenia 3: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC3 is an autosomal recessive form characterized by onset in infancy. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:273900Human phenotypes related to Thrombocytopenia 3:32
UMLS symptoms related to Thrombocytopenia 3:petechiae of skin |
Drugs for Thrombocytopenia 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Thrombocytopenia 3:41
Skin
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Genes related to Thrombocytopenia 3 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Thrombocytopenia 3:6
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Search
GEO
for disease gene expression data for Thrombocytopenia 3.
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Biological processes related to Thrombocytopenia 3 according to GeneCards Suite gene sharing:
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