Leukocyte Adhesion Deficiency, Type Iii (LAD3)

Alias:
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
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
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

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
17
137
17

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top