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pituitary hormone deficiency, combined, 1 (CPHD1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pituitary hormone deficiency, combined, 1

MONDO:0024464

Also known as:CPHD1POU1F1 combined pituitary hormone deficiencies, genetic formcombined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1

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Overview

Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.

GeneticsAutosomal recessive, Autosomal dominant · POU1F1 (chr 3)

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: Anterior pituitary hypoplasia, Short stature, Failure to thrive, and Hoarse voice and others. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	5	Anterior pituitary hypoplasia, Decreased thyroid-stimulating hormone level, Reduced circulating growth hormone concentration

Genetic Landscape

POU1F1 function has not been fully characterized.

Pituitary hormone deficiency, combined, 1 is associated with mutations in the POU1F1 gene on chromosome 3.

Diagnosis

Genetic testing for POU1F1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pituitary hormone deficiency, combined, 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 16 always present 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.

105 publications have been identified in PubMed for pituitary hormone deficiency, combined, 1. Research spans Basic Science / Preclinical (24%), Epidemiology / Natural History (23%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Laboratory research	25	24%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613038

GARD

Genetic and Rare Diseases Info Center

GARD:10601

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?

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Kisho

pituitary hormone deficiency, combined, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pituitary hormone deficiency, combined, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications