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cranioectodermal dysplasia 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cranioectodermal dysplasia 5

MONDO:0976269

Overview

GeneticsAutosomal recessive · IFT140 (chr 16)

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 always present findings: Tubulointerstitial nephritis, Nevus flammeus, Sagittal craniosynostosis, and Glycosuria and others; and very common findings: Nystagmus, Protein in the urine (proteinuria), and Stage 5 chronic kidney disease. 96 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	12	Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Stage 4 chronic kidney disease

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.

IFT140 encodes intraflagellar transport 140 (1,462 aa). Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Highest expression in Thyroid (59.8 TPM) and Testis (47.9 TPM).

Cranioectodermal dysplasia 5 is associated with mutations in the IFT140 gene on chromosome 16.

IFT140 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for IFT140 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 62 always present features, 3 very common features, 17 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 cranioectodermal dysplasia 5.

3 publications have been identified in PubMed for cranioectodermal dysplasia 5. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Aljeaid D (2026). [PMID: 42144731](https://pubmed.ncbi.nlm.nih.gov/42144731/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Berger R (2025). [PMID: 40148735](https://pubmed.ncbi.nlm.nih.gov/40148735/). *Pediatr Transplant*. [Case Report / Case Series]
Yap YT (2025). [PMID: 40348912](https://pubmed.ncbi.nlm.nih.gov/40348912/). *Cell Mol Life Sci*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621180

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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cranioectodermal dysplasia 5

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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