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

hypothyroidism, congenital, nongoitrous, 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypothyroidism, congenital, nongoitrous, 9

MONDO:0026732

Also known as:hypothyroidism, congenital, nongoitrous, 9, X-linked recessiveCHNG9

Overview

GeneticsX-linked · IRS4 (chr X)

ResearchLimited published research (1 article)

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 common findings: Thyroid hypoplasia. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	3	Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism
Growth and development

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IRS4 encodes insulin receptor substrate 4 (1,257 aa). Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Highest expression in Pituitary (9.5 TPM) and Ovary (2.7 TPM).

Hypothyroidism, congenital, nongoitrous, 9 is associated with mutations in the IRS4 gene on chromosome X.

The IRS4 protein participates in IRS-related events triggered by IGF1R pathway.

IRS4 is classified as a druggable target (Kinase category) with score 3.3.

Diagnosis

Genetic testing for IRS4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 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 hypothyroidism, congenital, nongoitrous, 9.

1 publication has been identified in PubMed for hypothyroidism, congenital, nongoitrous, 9. Research spans Review / Meta-Analysis (100%).

Recent Publications

Narumi S (2024). [PMID: 39506342](https://pubmed.ncbi.nlm.nih.gov/39506342/). *Ann Pediatr Endocrinol Metab*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301035

Questions for Your Care Team

→Should female family members consider carrier screening for IRS4?
→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

hypothyroidism, congenital, nongoitrous, 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features