Acth Deficiency, Isolated (IAD)

Alias:
Adrenocorticotropic Hormone Deficiency
Iad
Congenital Isolated Adrenocorticotropic Hormone Deficiency
Adrenocorticotropic Hormone [acth] Deficiency
Adrenocorticotropic Hormone Deficiency
Secondary Adrenocortical Insufficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acth Deficiency, Isolated, also known as adrenocorticotropic hormone deficiency, is related to premature ovarian failure 7 and inappropriate adh syndrome. An important gene associated with Acth Deficiency, Isolated is TBX19 (T-Box Transcription Factor 19), and among its related pathways/superpathways are Corticotropin-releasing hormone signaling pathway and Glucocorticoid receptor regulatory network. Affiliated tissues include pituitary and adrenal cortex, and related phenotypes are seizure and jaundice
Related ID:
MESH:C535668
ICD11:538301537

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
14
111
16

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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