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keratosis follicularis spinulosa decalvans, X-linked - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

keratosis follicularis spinulosa decalvans, X-linked

MONDO:0010637

Also known as:keratosis follicularis spinulosa decalvans, X-linked, X-linked recessiveKFSDXkeratosis follicularis Spinulosa decalvans cum Ophiasi

Overview

GeneticsX-linked · MBTPS2 (chr X)

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: Facial erythema, Keratitis, Scarring alopecia of scalp, and Clouding of the cornea (corneal dystrophy) and 14 more.

Organ System	Phenotype Count	Example Features
Skin	6	Facial erythema, Scarring alopecia of scalp, Dry skin

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.

MBTPS2 encodes membrane bound transcription factor peptidase, site 2 (519 aa). Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2. Highest expression in Cells Cultured fibroblasts (16.6 TPM) and Brain Cerebellar Hemisphere (10.1 TPM).

Keratosis follicularis spinulosa decalvans, X-linked is associated with mutations in the MBTPS2 gene on chromosome X.

The MBTPS2 protein participates in CREB3L2 translocates from the cytosol to the nucleus pathway.

MBTPS2 is classified as a druggable target (Enzyme, Protease, and Transcription Factor categories) with score 0.0.

Diagnosis

Genetic testing for MBTPS2 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 keratosis follicularis spinulosa decalvans, X-linked.

2 publications have been identified in PubMed for keratosis follicularis spinulosa decalvans, X-linked. Research spans Case Report / Case Series (100%).

Recent Publications

Pandapatan AT (2024). [PMID: 39431258](https://pubmed.ncbi.nlm.nih.gov/39431258/). *Acta medica Philippina*. [Case Report / Case Series]
Brashi R (2024). [PMID: 39205768](https://pubmed.ncbi.nlm.nih.gov/39205768/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:25 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:308800

GARD

Genetic and Rare Diseases Info Center

GARD:15299

Questions for Your Care Team

→Should female family members consider carrier screening for MBTPS2?
→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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keratosis follicularis spinulosa decalvans, X-linked

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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