Disease #05716 (KFSD (keratosis follicularis spinulosa decalvans (KFDS)), OMIM:612843)

Official abbreviation KFSD
Name keratosis follicularis spinulosa decalvans (KFDS)
OMIM ID 612843
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene MBTPS2
Associated tissues -
Disease features follicular hyperkeratosis, progressive cicatricial alopecia, photophobia
Remarks -
Date created 2020-04-03 10:05:19 +02:00 (CEST)
Date last edited N/A


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00466659 patient PubMed: Cuperus 2025, Journal: Cuperus 2025 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - - - - KFSD see paper; ..., normal birth, low birth weight (2,700g), small placenta, thin maternal cord; erythroderma, collodion membrane, scaling skin, facial erythema, hypohidrosis, non-cicatricial alopecia totalis, absent eyelashes, photophobia; 11m-non-specific febrile seizures, generalized hypohidrosis - MBTPS2 1 1 Johan den Dunnen
00466660 FamPatIV5 PubMed: Chen 2019, Journal: Chen 2019 4-generation family, 10 affected, 6 female carriers M - China - - - - - KFSD see paper; ..., birth little hair, rough skin; 1y-no scalp hair; 20y-complete alopecia, no eyebrows, no eyelashes, dry skin, widespread follicular papules, normal teeth, no intellectual disability, no photophobia performance MBTPS2 MBTPS2 1 10 Johan den Dunnen
00466661 patient PubMed: Zhang 2016, Journal: Zhang 2016 2-generation family, 1 affected, unaffected parents M - China - - - - - KFSD see paper; ..., mild photophobia; angular cheilitis, dystrophic nails, no scalp hair, no eyebrows, no eyelashes, spiky follicular hyperkeratosis predominantly on scalp and extensor surfaces extremities;normal hearing, normal vision, normal growth development, no intellectual disability MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466666 PamPatIV1 PubMed: Fong 2012 4-generation family, 4 affected, 2 affected carrier mothers M - United Kingdom (Great Britain) - - - - - KFSD see paper; ..., 6m-loss of eyebrows, roughness skin; marked loss both eyebrows, erythema, perifollicular accentuation,follicular hyperkeratosis, MBTPS2 MBTPS2 1 4 Johan den Dunnen
00466712 FamPatII2 PubMed: Eckl 2021 3-generation family, affected mother/son F - Austria - - - - - KFSD see paper; ..., generalised follicular hyperkeratosis, dry skin, scarring alopecia scalp, sparse eyebrows, sparse eyelashes, occipital folliculitis, hypohidrosis, myopia, astigmatism - CST6 1 2 Johan den Dunnen
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