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thyroid dyshormonogenesis 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thyroid dyshormonogenesis 4

MONDO:0010136

Also known as:IYD familial thyroid dyshormonogenesisTDH4familial thyroid dyshormonogenesis caused by mutation in IYD

Overview

Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene.

GeneticsAutosomal recessive · IYD (chr 6)

ResearchLimited published research (3 articles)

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: Hypothyroidism, Growth delay, Goiter, and Intellectual disability.

Organ System	Phenotype Count	Example Features
Hormones	1	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.

IYD encodes iodotyrosine deiodinase (289 aa). Catalyzes the dehalogenation of halotyrosines such as 3-bromo-L-tyrosine, 3-chloro-L-tyrosine, 3-iodo-L-tyrosine and 3,5-diiodo-L-tyrosine. Highest expression in Thyroid (383.3 TPM) and Liver (3.7 TPM).

Thyroid dyshormonogenesis 4 is associated with mutations in the IYD gene on chromosome 6.

IYD is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

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

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 thyroid dyshormonogenesis 4.

3 publications have been identified in PubMed for thyroid dyshormonogenesis 4. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Sasso E (2026). [PMID: 41691276](https://pubmed.ncbi.nlm.nih.gov/41691276/). *Int Breastfeed J*. [Case Report / Case Series]
Choong IEX (2026). [PMID: 42147080](https://pubmed.ncbi.nlm.nih.gov/42147080/). *JCEM Case Rep*. [Case Report / Case Series]
Dalal A (2025). [PMID: 38986456](https://pubmed.ncbi.nlm.nih.gov/38986456/). *Horm Res Paediatr*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274800

GARD

Genetic and Rare Diseases Info Center

GARD:18191

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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thyroid dyshormonogenesis 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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