Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant (KFSD)

Alias:
Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans
Keratosis Follicularis Spinulosa Decalvans
Kfsd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant, also known as autosomal dominant keratosis follicularis spinulosa decalvans, is related to alopecia and ichthyosis, and has symptoms including photophobia An important gene associated with Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2), and among its related pathways/superpathways is Immune response Antigen presentation by MHC class II. Affiliated tissues include skin and bone, and related phenotypes are keratosis pilaris and sparse eyelashes

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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15
143
2

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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