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hypogonadotropic hypogonadism 26 with or without anosmia (HH26) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypogonadotropic hypogonadism 26 with or without anosmia

MONDO:0030534

Also known as:HH26

Overview

GeneticsAutosomal dominant · TCF12 (chr 15)

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: Anosmia; and very common findings: Micropenis and Cryptorchidism. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Sideways curvature of the spine (scoliosis), Joint hypermobility, Weak and brittle bones (osteoporosis)

Genetic Landscape

TCF12 function has not been fully characterized.

Hypogonadotropic hypogonadism 26 with or without anosmia is associated with mutations in the TCF12 gene on chromosome 15.

Diagnosis

Genetic testing for TCF12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 1 common feature.

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 hypogonadotropic hypogonadism 26 with or without anosmia.

200 publications have been identified in PubMed for hypogonadotropic hypogonadism 26 with or without anosmia. Kisho has analyzed 70 by research type. Research spans Review / Meta-Analysis (51%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Research summaries	36	51%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 7:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619718

Questions for Your Care Team

→Should I pursue genetic testing for TCF12, 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

hypogonadotropic hypogonadism 26 with or without anosmia

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

hypogonadotropic hypogonadism 26 with or without anosmia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications