Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital isolated adrenocorticotropic hormone deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital isolated adrenocorticotropic hormone deficiency

MONDO:0008720

Also known as:adrenocorticotropic hormone deficiencycongenital isolated adrenocorticotropic hormone deficiency (disease)ACTH deficiency, isolated

Find Clinical TrialsTrials

Overview

A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.

GeneticsAutosomal recessive · TBX19 (chr 1)

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased circulating cortisol level, Neonatal hypoglycemia, and Adrenocorticotropin deficient adrenal insufficiency; and very common findings: Adrenal hypoplasia, Hypotension, Hyponatremia, and Fatigue. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	4	Cholestasis, Jaundice, Prolonged neonatal jaundice

Genetic Landscape

TBX19 function has not been fully characterized.

Congenital isolated adrenocorticotropic hormone deficiency is associated with mutations in the TBX19 gene on chromosome 1.

Diagnosis

Genetic testing for TBX19 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital isolated adrenocorticotropic hormone deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 4 very common features, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

50 publications have been identified in PubMed for congenital isolated adrenocorticotropic hormone deficiency. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (24%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Patient case studies	24

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 8:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:201400

Orphanet

European rare disease database

Orphanet:199296

GARD

Genetic and Rare Diseases Info Center

GARD:5727

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

congenital isolated adrenocorticotropic hormone deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital isolated adrenocorticotropic hormone deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications