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craniotubular dysplasia, Ikegawa type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniotubular dysplasia, Ikegawa type

MONDO:0859226

Overview

GeneticsAutosomal recessive · TMEM53 (chr 1)

OnsetJUVENILE

ResearchLimited published research (6 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: Broad femoral neck, Short stature, Thickened calvaria, and Broad ischia and others; and very common findings: Metaphyseal dysplasia, Hypertelorism, Thin bony cortex, and Sclerosis of skull base and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	6	Strabismus, Cerebral visual impairment, Optic nerve compression

Genetic Landscape

TMEM53 function has not been fully characterized.

Craniotubular dysplasia, Ikegawa type is associated with mutations in the TMEM53 gene on chromosome 1.

Diagnosis

Genetic testing for TMEM53 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 5 very common features, 3 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 craniotubular dysplasia, Ikegawa type.

6 publications have been identified in PubMed for craniotubular dysplasia, Ikegawa type. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Gao M (2026). [PMID: 40767825](https://pubmed.ncbi.nlm.nih.gov/40767825/). *Ophthalmology*. [Case Report / Case Series]
Peng Y (2025). [PMID: 40680154](https://pubmed.ncbi.nlm.nih.gov/40680154/). *Human molecular genetics*. [Basic Science / Preclinical]
Ren K (2025). [PMID: 39901041](https://pubmed.ncbi.nlm.nih.gov/39901041/). *Journal of human genetics*. [Case Report / Case Series]
van Ommeren B (2025). [PMID: 39300972](https://pubmed.ncbi.nlm.nih.gov/39300972/). *American journal of medical genetics. Part A*. [Basic Science / Preclinical]
Ren K (2025). [PMID: 41408477](https://pubmed.ncbi.nlm.nih.gov/41408477/). *Journal of human genetics*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619727

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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craniotubular dysplasia, Ikegawa type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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