KFSD
MCID: KRT073
MIFTS: 22

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant (KFSD)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

MalaCards integrated aliases for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant:

Name: Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 56 71
Kfsd 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
variable age at onset, infancy to adulthood
alopecia usually occurs around puberty


HPO:

31
keratosis follicularis spinulosa decalvans, autosomal dominant:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



Summaries for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

OMIM : 56 Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; 308800) (Castori et al., 2009). (612843)

MalaCards based summary : Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant, also known as kfsd, is related to keratosis follicularis spinulosa decalvans and keratosis follicularis spinulosa decalvans, x-linked, and has symptoms including photophobia Affiliated tissues include skin, and related phenotypes are cataract and carious teeth

Related Diseases for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Diseases in the Keratosis Follicularis Spinulosa Decalvans family:

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Diseases related to Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 keratosis follicularis spinulosa decalvans 11.8
2 keratosis follicularis spinulosa decalvans, x-linked 11.6
3 keratosis pilaris atrophicans 11.2
4 darier-white disease 10.4
5 keratosis 10.4
6 craniosynostosis with fibular aplasia 10.3
7 coffin-lowry syndrome 10.3
8 retinoschisis 1, x-linked, juvenile 10.3
9 46,xy sex reversal 2 10.1
10 hypophosphatemic rickets, x-linked recessive 10.1
11 rickets 10.1

Graphical network of the top 20 diseases related to Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant:



Diseases related to Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Symptoms & Phenotypes for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Human phenotypes related to Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 cataract 31 very rare (1%) HP:0000518
2 carious teeth 31 very rare (1%) HP:0000670
3 photophobia 31 very rare (1%) HP:0000613
4 palmoplantar keratoderma 31 very rare (1%) HP:0000982
5 nail dystrophy 31 very rare (1%) HP:0008404
6 keratitis 31 very rare (1%) HP:0000491
7 blepharitis 31 very rare (1%) HP:0000498
8 conjunctivitis 31 very rare (1%) HP:0000509
9 sparse eyelashes 31 very rare (1%) HP:0000653
10 hypoplasia of dental enamel 31 very rare (1%) HP:0006297
11 facial erythema 31 very rare (1%) HP:0001041
12 scarring alopecia of scalp 31 very rare (1%) HP:0004552
13 keratosis pilaris 31 very rare (1%) HP:0032152
14 sparse and thin eyebrow 31 very rare (1%) HP:0000535
15 folliculitis 31 very rare (1%) HP:0025084
16 alopecia 31 HP:0001596
17 nail dysplasia 31 HP:0002164
18 perifollicular fibrosis 31 HP:0030054

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
keratitis
blepharitis
conjunctivitis
sparse eyelashes
more
Head And Neck Head:
facial erythema

Skin Nails Hair Skin Histology:
perifollicular fibrosis
epidermal hyperplasia
perifollicular inflammatory infiltrate

Skin Nails Hair Nails:
dystrophic nails

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
alopecia, beginning in the occiput

Skin Nails Hair Skin:
keratosis pilaris
folliculitis
follicular hyperkeratotic papules
folliculitis of the scalp, trunk, and extensor surfaces of the extremities

Head And Neck Teeth:
enamel hypoplasia
dental caries

Clinical features from OMIM:

612843

UMLS symptoms related to Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant:


photophobia

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Genetic Tests for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Anatomical Context for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant:

40
Skin

Publications for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Articles related to Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant:

(show all 25)
# Title Authors PMID Year
1
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. 61 56
18984066 2009
2
Keratosis follicularis spinulosa decalvans in a family. 61 56
18280351 2008
3
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. 61
29204395 2017
4
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. 61
27663151 2016
5
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2. 61
25683132 2015
6
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. 61
24313295 2014
7
Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. 61
23960394 2013
8
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. 61
22816986 2012
9
Keratosis follicularis spinulosa decalvans in a female. 61
21508573 2011
10
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. 61
20672378 2010
11
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. 61
19326693 2009
12
Familial keratosis follicularis spinulosa decalvans associated with woolly hair. 61
17651168 2007
13
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). 61
12215835 2002
14
[Keratosis follicularis spinulosa decalvans associated with patent ductus arteriosus and hypospadia in an Asiatic patient]. 61
10354925 1999
15
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. 61
9598732 1998
16
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. 61
9341865 1997
17
High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes. 61
9195994 1997
18
An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 61
8744027 1996
19
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. 61
8544196 1995
20
[Keratosis follicularis spinulosa decalvans. Therapy with isotretinoin and etretinate in the inflammatory stage]. 61
8376108 1993
21
Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. 61
1550124 1992
22
Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family. 61
1350668 1992
23
Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. 61
1552542 1992
24
Keratosis follicularis spinulosa decalvans: report of a case with ultrastructural study and unsuccessful trial of retinoids. 61
1498376 1992
25
Keratosis follicularis spinulosa decalvans. Report of two cases and literature review. 61
6336927 1983

Variations for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Expression for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Search GEO for disease gene expression data for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant.

Pathways for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

GO Terms for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Sources for Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

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72 UMLS via Orphanet
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