MCID: KRT057
MIFTS: 25

Keratosis Follicularis Spinulosa Decalvans, X-Linked malady

Genetic diseases (common) category

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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Aliases & Descriptions for Keratosis Follicularis Spinulosa Decalvans, X-Linked:

Name: Keratosis Follicularis Spinulosa Decalvans, X-Linked 49 22
Kfsdx 22 67
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 65
 
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 67
Keratosis Follicularis Spinulosa Decalvans X-Linked 67
Siemens-1 Syndrome 67


Classifications:



External Ids:

OMIM49 308800
MedGen34 C0343057
MeSH36 D007642

Summaries for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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OMIM:49 Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis... (308800) more...

MalaCards based summary: Keratosis Follicularis Spinulosa Decalvans, X-Linked, also known as kfsdx, is related to keratosis follicularis spinulosa decalvans and charcot-marie-tooth disease, x-linked dominant, 6, and has symptoms including keratitis, blepharitis and conjunctivitis. An important gene associated with Keratosis Follicularis Spinulosa Decalvans, X-Linked is MBTPS2 (Membrane-Bound Transcription Factor Peptidase, Site 2). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot:67 Keratosis follicularis spinulosa decalvans X-linked: A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration.

Related Diseases for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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Diseases related to Keratosis Follicularis Spinulosa Decalvans, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1keratosis follicularis spinulosa decalvans10.8
2charcot-marie-tooth disease, x-linked dominant, 69.9MBTPS2, SAT1
3keratosis palmoplantaris adenocarcinoma of the colon9.9MBTPS2, SAT1
4corneal deposit9.8MBTPS2, SAT1
5ehlers-danlos syndrome9.8MBTPS2, SAT1
6kidney angiomyolipoma9.8MBTPS2, SAT1
7blepharoconjunctivitis9.8MBTPS2, SAT1
8otosclerosis 49.7MBTPS2, SAT1

Graphical network of diseases related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:



Diseases related to keratosis follicularis spinulosa decalvans, x-linked

Symptoms for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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Symptoms by clinical synopsis from OMIM:

308800

Clinical features from OMIM:

308800

HPO human phenotypes related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:

(show all 18)
id Description Frequency HPO Source Accession
1 keratitis HP:0000491
2 blepharitis HP:0000498
3 conjunctivitis HP:0000509
4 sparse eyebrow HP:0000535
5 photophobia HP:0000613
6 sparse eyelashes HP:0000653
7 ectropion HP:0000656
8 dry skin HP:0000958
9 palmoplantar keratoderma HP:0000982
10 facial erythema HP:0001041
11 corneal dystrophy HP:0001131
12 x-linked recessive inheritance HP:0001419
13 heterogeneous HP:0001425
14 nail dysplasia HP:0002164
15 scarring alopecia of scalp HP:0004552
16 follicular hyperkeratosis HP:0007502
17 dystrophic fingernails HP:0008391
18 perifollicular fibrosis HP:0030054

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Keratosis Follicularis Spinulosa Decalvans, X-Linked

Genetic Tests for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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Genetic tests related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:

id Genetic test Affiliating Genes
1 Keratosis Follicularis Spinulosa Decalvans, X-Linked22 MBTPS2, SAT1

Anatomical Context for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:

33
Skin, Eye

Animal Models for Keratosis Follicularis Spinulosa Decalvans, X-Linked or affiliated genes

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Publications for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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Variations for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Keratosis Follicularis Spinulosa Decalvans, X-Linked:

67
id Symbol AA change Variation ID SNP ID
1MBTPS2p.Asn508SerVAR_064409

Clinvar genetic disease variations for Keratosis Follicularis Spinulosa Decalvans, X-Linked:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MBTPS2NM_015884.3(MBTPS2): c.1523A> G (p.Asn508Ser)single nucleotide variantPathogenicrs587776867GRCh37Chr X, 21900736: 21900736

Expression for genes affiliated with Keratosis Follicularis Spinulosa Decalvans, X-Linked

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Search GEO for disease gene expression data for Keratosis Follicularis Spinulosa Decalvans, X-Linked.

Pathways for genes affiliated with Keratosis Follicularis Spinulosa Decalvans, X-Linked

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GO Terms for genes affiliated with Keratosis Follicularis Spinulosa Decalvans, X-Linked

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Sources for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet