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thyroid hormone metabolism, abnormal 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thyroid hormone metabolism, abnormal 1

MONDO:0800046

Also known as:thyroid hormone metabolism, abnormalTHMA1short stature-delayed bone age due to thyroid hormone metabolism deficiency

Overview

A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.

GeneticsAutosomal recessive · SECISBP2 (chr 9)

ResearchLimited published research (2 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 always present findings: Increased circulating free T4 concentration; and very common findings: Abnormal circulating enzyme concentration or activity. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	4	Gowers sign, Proximal lower limb muscle weakness, Distal lower limb muscle weakness

Genetic Landscape

SECISBP2 function has not been fully characterized.

Thyroid hormone metabolism, abnormal 1 is associated with mutations in the SECISBP2 gene on chromosome 9.

Diagnosis

Genetic testing for SECISBP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

Estimated prevalence: Unknown (Unknown prevalence).

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 hormone metabolism, abnormal 1.

2 publications have been identified in PubMed for thyroid hormone metabolism, abnormal 1. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Laugwitz L (2025). [PMID: 39753114](https://pubmed.ncbi.nlm.nih.gov/39753114/). *American journal of human genetics*. [Basic Science / Preclinical]
Persani L (2024). [PMID: 38963712](https://pubmed.ncbi.nlm.nih.gov/38963712/). *European thyroid journal*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609698

Orphanet

European rare disease database

Orphanet:171706

GARD

Genetic and Rare Diseases Info Center

GARD:17068

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 hormone metabolism, abnormal 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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