KFSDX
MCID: KRT057
MIFTS: 24
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Keratosis Follicularis Spinulosa Decalvans, X-Linked (KFSDX)
Categories:
Eye diseases, Genetic diseases, Skin diseases
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MalaCards integrated aliases for Keratosis Follicularis Spinulosa Decalvans, X-Linked:
Characteristics:OMIM:57
Miscellaneous:
genetic heterogeneity onset in infancy or early childhood carrier females may have mild features allelic disorder to ifap syndrome
Inheritance:
x-linked recessive HPO:32
keratosis follicularis spinulosa decalvans, x-linked:
Inheritance heterogeneous x-linked inheritance x-linked recessive inheritance Classifications: |
OMIM
:
57
Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009).
Autosomal dominant inheritance has also been reported (KFSD; 612843).
The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair. (308800)
MalaCards based summary : Keratosis Follicularis Spinulosa Decalvans, X-Linked, also known as keratosis follicularis spinulosa decalvans cum ophiasi, is related to keratosis follicularis spinulosa decalvans and keratosis follicularis spinulosa decalvans, autosomal dominant, and has symptoms including photophobia An important gene associated with Keratosis Follicularis Spinulosa Decalvans, X-Linked is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2). Affiliated tissues include skin and eye, and related phenotypes are photophobia and abnormality of the nail UniProtKB/Swiss-Prot : 75 Keratosis follicularis spinulosa decalvans X-linked: A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. |
Diseases related to Keratosis Follicularis Spinulosa Decalvans, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:![]() |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:308800Human phenotypes related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:32 (show all 18)
UMLS symptoms related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:photophobia |
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MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:41
Skin,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Keratosis Follicularis Spinulosa Decalvans, X-Linked:75
ClinVar genetic disease variations for Keratosis Follicularis Spinulosa Decalvans, X-Linked:6
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Search
GEO
for disease gene expression data for Keratosis Follicularis Spinulosa Decalvans, X-Linked.
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