KFSD
MCID: KRT014
MIFTS: 21

Keratosis Follicularis Spinulosa Decalvans (KFSD) malady

Summaries for Keratosis Follicularis Spinulosa Decalvans

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 compounds (r)-(+)-etomoxir sodium salt and vulm 1457 have been mentioned in the context of this disorder. Affiliated tissues include skin and eye.

Wikipedia:63 Keratosis follicularis spinulosa decalvans (also known as \"Siemens-1 syndrome\") is a rare X-linked... more...

Description from OMIM:46 308800

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

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42NIH Rare Diseases, 46OMIM, 60UMLS
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Aliases & Descriptions:

keratosis follicularis spinulosa decalvans 42 46
keratosis follicularis spinulosa decalvans, autosomal dominant 60
keratosis follicularis spinulosa decalvans cum ophiasi 42
kfsd 42


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
2keratosis11.2
3keratosis follicularis spinulosa decalvans, x-linked10.8
4alopecia10.7
5acne10.7
6folliculitis10.5
7palmoplantar keratosis10.5
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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46OMIM
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Clinical features from OMIM:

308800

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans:

32
Skin, Eye

Animal Models for Keratosis Follicularis Spinulosa Decalvans or affiliated genes

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Publications for Keratosis Follicularis Spinulosa Decalvans

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Genetic Variations for Keratosis Follicularis Spinulosa Decalvans

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Keratosis Follicularis Spinulosa Decalvans:

62
id Symbol AA change Variation ID SNP ID
1MBTPS2p.Asn508SerVAR_064409

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

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Compounds for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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59Tocris Bioscience
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Compounds related to Keratosis Follicularis Spinulosa Decalvans according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(+)-etomoxir sodium salt599.4KFSD, SAT1
2vulm 1457599.3KFSD, SAT1
3a 922500599.3SAT1, KFSD
4ym 750599.2SAT1, KFSD
5n1,n11-diethylnorspermine tetrahydrochloride599.0SAT1, KFSD

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Keratosis Follicularis Spinulosa Decalvans

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet