Ectodermal Dysplasia and Immunodeficiency 1 (EDAID1)

Alias:

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema

Anhidrotic Ectodermal Dysplasia-Immunodeficiency-Osteopetrosis-Lymphedema Syndrome

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency

Oledaid

Edaid1

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis and Lymphedema

Hyper-Igm Immunodeficiency, X-Linked, with Hypohidrotic Ectodermal Dysplasia

Hyper-Igm Immunodeficiency X-Linked with Ectodermal Dysplasia Hypohidrotic

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency X-Linked

Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency

Ectodermal Dysplasia Hypohidrotic with Immunodeficiency

Ectodermal Dysplasia Anhidrotic with Immune Deficiency

Dysplasia, Ectodermal, and Immunodeficiency, Type 1

Nemo Deficiency

Ol-Eda-Id

Eda-Id

Hed-Id

Xhm-Ed

Hedid

Xhmed

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Ectodermal Dysplasia and Immunodeficiency 1, also known as ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema, is related to immunodeficiency 33 and ectodermal dysplasia and immune deficiency. An important gene associated with Ectodermal Dysplasia and Immunodeficiency 1 is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways are Host-pathogen interaction of human coronaviruses - interferon induction and Nucleotide-binding oligomerization domain (NOD) pathway. Affiliated tissues include skin and bone, and related phenotypes are frontal bossing and lymphedema

Related ID：

MALACARDS：ECT108

OMIM：300291

MESH：D004476