KFSD
MCID: KRT014
MIFTS: 25

Keratosis Follicularis Spinulosa Decalvans (KFSD) malady

Genetic diseases, Rare diseases categories

Summaries for Keratosis Follicularis Spinulosa Decalvans

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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. An important gene associated with Keratosis Follicularis Spinulosa Decalvans is SAT1 (spermidine/spermine N1-acetyltransferase 1). The compound leucine have been mentioned in the context of this disorder. Affiliated tissues include eye and skin.

Wikipedia:66 Keratosis follicularis spinulosa decalvans (also known as \"Siemens-1 syndrome\") is a rare X-linked... more...

Description from OMIM:48 308800

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

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44NIH Rare Diseases, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

keratosis follicularis spinulosa decalvans 44 48
keratosis follicularis spinulosa decalvans, autosomal dominant 63
keratosis follicularis spinulosa decalvans cum ophiasi 44
kfsd 44


Related Diseases for Keratosis Follicularis Spinulosa Decalvans

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18GeneCards, 19GeneDecks
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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
2keratosis11.3
3keratosis follicularis spinulosa decalvans, x-linked10.9
4alopecia10.8
5acne10.7
6keratoderma10.7
7folliculitis10.5
8tufted hair folliculitis10.5
9keratosis pilaris atrophicans10.5
10polyneuropathy10.0MBTPS2, PMP22

Graphical network of diseases related to Keratosis Follicularis Spinulosa Decalvans:



Diseases related to keratosis follicularis spinulosa decalvans

Symptoms for Keratosis Follicularis Spinulosa Decalvans

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48OMIM
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Clinical features from OMIM:

308800

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Keratosis Follicularis Spinulosa Decalvans

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Anatomical Context for Keratosis Follicularis Spinulosa Decalvans

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34MalaCards
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MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans:

34
Eye, Skin

Animal Models for Keratosis Follicularis Spinulosa Decalvans or affiliated genes

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Publications for Keratosis Follicularis Spinulosa Decalvans

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53PubMed
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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

Variations for Keratosis Follicularis Spinulosa Decalvans

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Keratosis Follicularis Spinulosa Decalvans:

65
id Symbol AA change Variation ID SNP ID
1MBTPS2p.Asn508SerVAR_064409

Clinvar genetic disease variations for Keratosis Follicularis Spinulosa Decalvans:

1
id Gene Name Type Significance SNP ID Assembly Location
1MBTPS2NM_015884.3(MBTPS2): c.1523A> G (p.Asn508Ser)single nucleotide variantPathogenicGRCh37Chr X, 21900736: 21900736

Expression for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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2BioGPS, 16Gene 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

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Compounds for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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

idCompoundScoreTop Affiliating Genes
1leucine469.3SAT1, PMP22

GO Terms for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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Products for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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Sources for Keratosis Follicularis Spinulosa Decalvans

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4CDC
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25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
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60SNOMED-CT via Orphanet
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