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pituitary hormone deficiency, combined or isolated, 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pituitary hormone deficiency, combined or isolated, 8

MONDO:0957208

Overview

GeneticsAutosomal dominant · ROBO1 (chr 3)

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: Short stature, Decreased serum insulin-like growth factor 1, and Reduced circulating growth hormone concentration; and very common findings: Anterior pituitary hypoplasia. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	8	Anterior pituitary hypoplasia, Anterior pituitary agenesis, Decreased serum insulin-like growth factor 1

Genetic Landscape

ROBO1 function has not been fully characterized.

Pituitary hormone deficiency, combined or isolated, 8 is associated with mutations in the ROBO1 gene on chromosome 3.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for ROBO1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pituitary hormone deficiency, combined or isolated, 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 5 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.

No clinical trials have been registered for pituitary hormone deficiency, combined or isolated, 8.

202 publications have been identified in PubMed for pituitary hormone deficiency, combined or isolated, 8. Research spans Basic Science / Preclinical (41%), Clinical Trial Publication (16%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Laboratory research	71	41%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620303

Questions for Your Care Team

→Should I pursue genetic testing for ROBO1, and what would the results mean for my family?
→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 or isolated, 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pituitary hormone deficiency, combined or isolated, 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications