Leukocyte Adhesion Deficiency, Type Iii (LAD3)

Leukocyte Adhesion Deficiency, Type Iii(来自ICD-11)
别称:
Leukocyte Adhesion Deficiency 3
Leukocyte Adhesion Deficiency 1 Variant
Integrin Activation Deficiency Disease
Lad1v
Lad3
Iadd
Leukocyte Adhesion Deficiency Type Iii
Leukocyte Adhesion Deficiency-1 Variant
Leukocyte Adhesion Deficiency Type 1
Lad-1 Variant
Lad1 Variant
Lad-Iii
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Leukocyte Adhesion Deficiency, Type Iii, also known as leukocyte adhesion deficiency 3, is related to glanzmann thrombasthenia 1 and leukocyte adhesion deficiency, type i, 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 Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are splenomegaly and abnormality of thrombocytes
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参考文献
MALACARDS
AR
Child
<1/1000000
17
137
17

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MGI
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