Leukocyte adhesion deficiency, type III

Preferred Label : Leukocyte adhesion deficiency, type III;

Symbol : LAD3;

CISMeF acronym : IADD; LAD1V; LAD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leukocyte adhesion deficiency 3; Leukocyte adhesion deficiency 1 variant; IADD; LAD1V; Integrin activation deficiency disease;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fermitin family (Drosophila) homolog 3 gene (FERMT3, 607901.0001);

Prefixed ID : #612840;

Details

Origin ID

612840;

UMLS CUI

C2748536;

Automatic exact mappings (from CISMeF team)
- Leukocyte adhesion deficiency type I [PASCAL descriptor]
- Leukocyte adhesion deficiency type II [PASCAL descriptor]
Broader ORDO disease(s)
- Leukocyte adhesion deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Leukocyte Adhesion Deficiency Type 3 [NCIt concept]
- Leukocyte adhesion deficiency type 3 [ICD-11 More detail]
- Leukocyte adhesion deficiency type 3 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type III [ORDO Disease]
- leukocyte adhesion deficiency 3 [DO Concept]
- leukocyte adhesion deficiency type 3 [Disease (Nov.)]
- leukocyte adhesion deficiency, type III [MeSH concept]
- leukocyte adhesion deficiency, type III [MeSH Supplementary Concept]
DO Cross reference
- leukocyte adhesion deficiency 3 [DO Concept]
Genes related to phenotype
- Ferm domain-containing kindlin 3 [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormality of the lymph nodes [HPO term]
- Abnormality of thrombocytes [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Epistaxis [HPO term]
- Extramedullary hematopoiesis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Infantile onset [HPO term]
- Leukocytosis [HPO term]
- Osteopetrosis [HPO term]
- Pain [HPO term]
- Petechiae [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent skin infections [HPO term]
- Sepsis [HPO term]
- Splenomegaly [HPO term]
- Subcutaneous nodule [HPO term]
ORDO concept(s)
- Leukocyte adhesion deficiency [ORDO Disease]
- Leukocyte adhesion deficiency type III [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukocyte Adhesion Deficiency Type 3 [NCIt concept]
- Leukocyte adhesion deficiency type 3 (disorder) [SNOMED CT concept]
- Leukocyte adhesion deficiency type III [ORDO Disease]
- leukocyte adhesion deficiency 3 [DO Concept]
- leukocyte adhesion deficiency type 3 [Disease (Nov.)]
- leukocyte adhesion deficiency, type III [MeSH Supplementary Concept]
- leukocyte adhesion deficiency, type III [MeSH concept]

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