KFSD
MCID: KRT014
MIFTS: 24

Keratosis Follicularis Spinulosa Decalvans (KFSD) malady

Summaries for Keratosis Follicularis Spinulosa Decalvans

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Keratosis follicularis spinulosa decalvans (kfsd) is a rare, inherited, skin condition. kfsd is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. the face, neck, and forearms are frequently involved. the thickening of the skin is accompanied by the loss of eyebrows, eyelashes, and hair on the face and head. allergic reactions (atopy), reduced tolerance of bright light (photophobia), and inflammation of the eye's cornea (keratitis) may also occur. kfsd is thought to be caused by mutations in the sat1 gene and inherited in an x-linked manner. last updated: 6/28/2011

MalaCards: Keratosis Follicularis Spinulosa Decalvans, also known as keratosis follicularis spinulosa decalvans, autosomal dominant, is related to keratosis follicularis and keratosis follicularis spinulosa decalvans, x-linked. An important gene associated with Keratosis Follicularis Spinulosa Decalvans is SAT1 (spermidine/spermine N1-acetyltransferase 1). The compounds (r)-(+)-etomoxir sodium salt and vulm 1457 have been mentioned in the context of this disorder. Affiliated tissues include skin.

Wikipedia:64 Keratosis follicularis spinulosa decalvans (also known as \"Siemens-1 syndrome\") is a rare X-linked... more...

Description from OMIM:47 308800

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

Sources:
43NIH Rare Diseases, 47OMIM, 61UMLS
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Aliases & Descriptions:

keratosis follicularis spinulosa decalvans 43 47
keratosis follicularis spinulosa decalvans, autosomal dominant 61
keratosis follicularis spinulosa decalvans cum ophiasi 43
kfsd 43


Related Diseases for Keratosis Follicularis Spinulosa Decalvans

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17GeneCards, 18GeneDecks
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Diseases related to Keratosis Follicularis Spinulosa Decalvans via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1keratosis follicularis31.8MBTPS2, SAT1
2keratosis follicularis spinulosa decalvans, x-linked10.9
3alopecia10.8
4acne10.7
5keratoderma10.7
6folliculitis10.5
7tufted hair folliculitis10.5
8keratosis pilaris atrophicans10.5
9polyneuropathy10.0MBTPS2, PMP22

Graphical network of diseases related to Keratosis Follicularis Spinulosa Decalvans:



Diseases related to keratosis follicularis spinulosa decalvans

Clinical Features for Keratosis Follicularis Spinulosa Decalvans

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47OMIM
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Clinical features from OMIM:

308800

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Genetic Tests for Keratosis Follicularis Spinulosa Decalvans

Anatomical Context for Keratosis Follicularis Spinulosa Decalvans

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33MalaCards
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MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans:

33
Skin

Animal Models for Keratosis Follicularis Spinulosa Decalvans or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Keratosis Follicularis Spinulosa Decalvans

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51PubMed
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Articles related to Keratosis Follicularis Spinulosa Decalvans:

(show all 29)
idTitleAuthorsYear
1
Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. (23960394)
2013
2
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. (22816986)
2012
3
Keratosis follicularis spinulosa decalvans in a female. (21508573)
2011
4
Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. (20959277)
2010
5
Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. (20672378)
2010
6
Keratosis follicularis spinulosa decalvans: case report. (20944916)
2010
7
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. (18984066)
2009
8
Keratosis follicularis spinulosa decalvans in a family. (18280351)
2008
9
Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. (18284270)
2008
10
Familial keratosis follicularis spinulosa decalvans associated with woolly hair. (17651168)
2007
11
Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae. (16197427)
2005
12
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). (12215835)
2002
13
Two brothers with keratosis follicularis spinulosa decalvans. (12399750)
2002
14
Psychomotor retardation - an unusual association of keratosis follicularis spinulosa decalvans. (20877117)
2000
15
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. (9598732)
1998
16
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. (9341865)
1997
17
Cicatricial alopecia and keratosis pilaris. Keratosis follicularis spinulosa decalvans. (9080901)
1997
18
Keratosis follicularis spinulosa decalvans: report of a new pedigree. (8745901)
1996
19
Keratosis follicularis spinulosa decalvans. (20952906)
1995
20
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. (8544196)
1995
21
Keratosis pilaris and scarring alopecia. Keratosis follicularis spinulosa decalvans. (1550376)
1992
22
Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. (1552542)
1992
23
Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family. (1350668)
1992
24
Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. (1550124)
1992
25
Keratosis follicularis spinulosa decalvans: report of a case with ultrastructural study and unsuccessful trial of retinoids. (1498376)
1992
26
Keratosis follicularis spinulosa decalvans with birefringent hairs. An association with variable keratoderma. (2975234)
1988
27
Keratosis follicularis spinulosa decalvans. Report of two cases and literature review. (6336927)
1983
28
Keratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections. (646399)
1978
29
Keratosis follicularis spinulosa decalvans in a family from northern Finland. (4101047)
1971

Genetic Variations for Keratosis Follicularis Spinulosa Decalvans

Expression for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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Pathways for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

Compounds for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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60Tocris Bioscience
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Compounds related to Keratosis Follicularis Spinulosa Decalvans according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(+)-etomoxir sodium salt609.4KFSD, SAT1
2vulm 1457609.3KFSD, SAT1
3a 922500609.3SAT1, KFSD
4ym 750609.2SAT1, KFSD
5n1,n11-diethylnorspermine tetrahydrochloride609.0SAT1, KFSD

GO Terms for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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Sources for Keratosis Follicularis Spinulosa Decalvans

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet