LAD3
MCID: LKC005
MIFTS: 50
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Leukocyte Adhesion Deficiency, Type Iii (LAD3)
Categories:
Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type Iii:
Characteristics:Orphanet epidemiological data:58
leukocyte adhesion deficiency type iii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: early childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy delayed separation of umbilical cord delayed wound healing can be treated by bone marrow transplantation HPO:31
leukocyte adhesion deficiency, type iii:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Eye diseases Bone diseases Blood diseases Immune diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
Leukocyte adhesion deficiency-3 (LAD3), also known as LAD1 variant (LAD1V), is an autosomal recessive disorder characterized by LAD1 (116920)-like immune deficiency and Glanzmann thrombasthenia (GT; 273800)-like bleeding problems. LAD3 results from mutations in FERMT3, or KINDLIN3, which encodes an intracellular protein that interacts with beta-integrins in hematopoietic cells. In LAD3, the adhesive functions of integrins on both leukocytes and platelets are disrupted, most likely due to defects in activation-dependent alterations of surface integrins that enable high-avidity binding to ligands on target cells, a process termed 'inside-out signaling' (Svensson et al., 2009; Zimmerman, 2009). (612840)
MalaCards based summary : Leukocyte Adhesion Deficiency, Type Iii, also known as leukocyte adhesion deficiency 3, is related to leukocyte adhesion deficiency, type i and congenital disorder of glycosylation, type iic, and has symptoms including petechiae of skin An important gene associated with Leukocyte Adhesion Deficiency, Type Iii is FERMT3 (Fermitin Family Member 3), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and MAPK Erk Pathway. The drugs Ustekinumab and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and endothelial, and related phenotypes are splenomegaly and hepatosplenomegaly Disease Ontology : 12 A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has material basis in mutation in FERMT3 gene on chromosome 11q12. UniProtKB/Swiss-Prot : 73 Leukocyte adhesion deficiency 3: A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. |
Diseases related to Leukocyte Adhesion Deficiency, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:(show all 12)
Graphical network of the top 20 diseases related to Leukocyte Adhesion Deficiency, Type Iii:![]() |
Human phenotypes related to Leukocyte Adhesion Deficiency, Type Iii:31 (show all 16)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:612840UMLS symptoms related to Leukocyte Adhesion Deficiency, Type Iii:petechiae of skin |
Drugs for Leukocyte Adhesion Deficiency, Type Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)Interventional clinical trials:
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MalaCards organs/tissues related to Leukocyte Adhesion Deficiency, Type Iii:40
Bone,
Skin,
Endothelial,
Neutrophil,
Bone Marrow,
Eye,
Lymph Node
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Articles related to Leukocyte Adhesion Deficiency, Type Iii:(show all 29)
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ClinVar genetic disease variations for Leukocyte Adhesion Deficiency, Type Iii:6 (show top 50) (show all 89)
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Search
GEO
for disease gene expression data for Leukocyte Adhesion Deficiency, Type Iii.
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Pathways related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:(show all 19)
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Cellular components related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:
Biological processes related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:(show all 18)
Molecular functions related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:
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