LAD3
MCID: LKC005
MIFTS: 55
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Leukocyte Adhesion Deficiency, Type Iii (LAD3)
Categories:
Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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MalaCards integrated aliases for Leukocyte Adhesion Deficiency, Type Iii:
Characteristics:Inheritance:
Leukocyte Adhesion Deficiency, Type Iii:
Autosomal recessive 57
Leukocyte Adhesion Deficiency Type Iii:
Autosomal recessive 58
Prevelance:
Leukocyte Adhesion Deficiency Type Iii:
<1/1000000 (Worldwide) 58
Age Of Onset:
Leukocyte Adhesion Deficiency Type Iii:
Childhood 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy delayed wound healing delayed separation of umbilical cord can be treated by bone marrow transplantation Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Infectious diseases Anatomical: Eye diseases Bone diseases Blood diseases Immune diseases
ICD10:
32
Orphanet: 58
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OMIM®: 57 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). For a discussion of genetic heterogeneity of leukocyte adhesion deficiency, see 116920. (612840) (Updated 08-Dec-2022) MalaCards based summary: Leukocyte Adhesion Deficiency, Type Iii, also known as leukocyte adhesion deficiency 3, is related to leukocyte adhesion deficiency, type i and combined immunodeficiency, and has symptoms including petechiae of skin An important gene associated with Leukocyte Adhesion Deficiency, Type Iii is FERMT3 (FERM Domain Containing Kindlin 3), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Ustekinumab and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and eye, and related phenotypes are abnormality of thrombocytes and hepatosplenomegaly Disease Ontology: 11 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. Orphanet: 58 Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder. UniProtKB/Swiss-Prot: 73 A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. |
Human phenotypes related to Leukocyte Adhesion Deficiency, Type Iii:30 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:612840 (Updated 08-Dec-2022)UMLS symptoms related to Leukocyte Adhesion Deficiency, Type Iii:petechiae of skin MGI Mouse Phenotypes related to Leukocyte Adhesion Deficiency, Type Iii:45
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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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Organs/tissues related to Leukocyte Adhesion Deficiency, Type Iii:
MalaCards :
Bone Marrow,
Bone,
Eye,
Endothelial,
Neutrophil,
Skin
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Articles related to Leukocyte Adhesion Deficiency, Type Iii:(show top 50) (show all 81)
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ClinVar genetic disease variations for Leukocyte Adhesion Deficiency, Type Iii:5 (show top 50) (show all 323)
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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 31)
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Cellular components related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:(show all 17)
Biological processes related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Leukocyte Adhesion Deficiency, Type Iii according to GeneCards Suite gene sharing:
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