BDPLT18
MCID: BLD126
MIFTS: 41
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Bleeding Disorder, Platelet-Type, 18 (BDPLT18)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases
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MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 18:
Characteristics:Inheritance:
Bleeding Disorder, Platelet-Type, 18:
Autosomal recessive 57
Bleeding Disorder Due to Caldag-Gefi Deficiency:
Autosomal recessive 58
Prevelance:
Bleeding Disorder Due to Caldag-Gefi Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Bleeding Disorder Due to Caldag-Gefi Deficiency:
Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy one family has been reported (last curated july 2014) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Bone diseases Immune diseases Smell/Taste diseases
ICD10:
31
32
Orphanet: 58
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Orphanet: 58 Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. MalaCards based summary: Bleeding Disorder, Platelet-Type, 18, also known as platelet-type bleeding disorder 18, is related to leukocyte adhesion deficiency, type i and leukocyte adhesion deficiency, type iii. An important gene associated with Bleeding Disorder, Platelet-Type, 18 is RASGRP2 (RAS Guanyl Releasing Protein 2), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are epistaxis and prolonged bleeding time Disease Ontology: 11 A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has material basis in homozygous mutation in the RASGRP2 gene on chromosome 11q13. UniProtKB/Swiss-Prot: 73 A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. |
Human phenotypes related to Bleeding Disorder, Platelet-Type, 18:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615888 (Updated 08-Dec-2022) |
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Organs/tissues related to Bleeding Disorder, Platelet-Type, 18:
MalaCards :
Bone Marrow,
Bone
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Articles related to Bleeding Disorder, Platelet-Type, 18:
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ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 18:5 (show all 18)
UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 18:73
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Search
GEO
for disease gene expression data for Bleeding Disorder, Platelet-Type, 18.
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Pathways related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:(show all 28)
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Cellular components related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:
Biological processes related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:
Molecular functions related to Bleeding Disorder, Platelet-Type, 18 according to GeneCards Suite gene sharing:
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