MCID: KRT014
MIFTS: 26

Keratosis Follicularis Spinulosa Decalvans malady

Categories: Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

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Sources:
12diseasecard, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Keratosis Follicularis Spinulosa Decalvans:

Name: Keratosis Follicularis Spinulosa Decalvans 47 53 12
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 67
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 47
 
Keratosis Follicularis Spinulosa Decalvans, X-Linked 67
Kfsd 47

Characteristics:

Orphanet epidemiological data:

53
keratosis follicularis spinulosa decalvans:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood

Classifications:



External Ids:

Orphanet53 ORPHA2340
MESH via Orphanet39 C536159
UMLS via Orphanet68 C0343057
ICD10 via Orphanet30 Q82.8

Summaries for Keratosis Follicularis Spinulosa Decalvans

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Wikipedia:70 Keratosis follicularis spinulosa decalvans (also known as \"Siemens-1 syndrome\") is a rare X-linked... more...

MalaCards based summary: Keratosis Follicularis Spinulosa Decalvans, also known as keratosis follicularis spinulosa decalvans, autosomal dominant, is related to keratosis follicularis spinulosa decalvans, x-linked and keratosis, and has symptoms including hyperkeratosis, alopecia and ichthyosis. An important gene associated with Keratosis Follicularis Spinulosa Decalvans is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2). Affiliated tissues include skin and eye.

Related Diseases for Keratosis Follicularis Spinulosa Decalvans

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1keratosis follicularis spinulosa decalvans, x-linked12.7
2keratosis11.0
3alopecia10.5
4keratosis pilaris10.4
5acne10.4
6folliculitis10.2
7tufted hair folliculitis10.2
8autism x-linked 49.8MBTPS2, SAT1
9normal pressure hydrocephalus9.7MBTPS2, SAT1
10breast fibroadenoma9.7MBTPS2, SAT1
11intracranial hypertension9.6MBTPS2, SAT1
12malignant ovarian brenner tumor9.5MBTPS2, SAT1
13ulerythema ophryogenesis8.7LRP1, MBTPS2, PMP22, SAT1

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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Human phenotypes related to Keratosis Follicularis Spinulosa Decalvans:

 63 (show all 13)
id Description HPO Frequency HPO Source Accession
1 hyperkeratosis63 hallmark (90%) HP:0000962
2 alopecia63 hallmark (90%) HP:0001596
3 ichthyosis63 hallmark (90%) HP:0008064
4 aplasia/hypoplasia of the eyebrow63 hallmark (90%) HP:0100840
5 blepharitis63 typical (50%) HP:0000498
6 retinal detachment63 typical (50%) HP:0000541
7 myopia63 typical (50%) HP:0000545
8 abnormality of the fingernails63 typical (50%) HP:0001231
9 opacification of the corneal stroma63 typical (50%) HP:0007759
10 carious teeth63 occasional (7.5%) HP:0000670
11 abnormality of dental enamel63 occasional (7.5%) HP:0000682
12 eczema63 occasional (7.5%) HP:0000964
13 abnormality of dental color63 occasional (7.5%) HP:0011073

UMLS symptoms related to Keratosis Follicularis Spinulosa Decalvans:


photophobia

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Keratosis Follicularis Spinulosa Decalvans

Genetic Tests for Keratosis Follicularis Spinulosa Decalvans

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Anatomical Context for Keratosis Follicularis Spinulosa Decalvans

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MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans:

35
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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Articles related to Keratosis Follicularis Spinulosa Decalvans:

(show all 35)
idTitleAuthorsYear
1
Keratosis follicularis spinulosa decalvans. (26765129)
2016
2
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. (27663151)
2016
3
Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin. (26515859)
2015
4
Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases. (26622157)
2015
5
Substance P in keratosis follicularis spinulosa decalvans. (27051769)
2015
6
Keratosis Follicularis Spinulosa Decalvans Associated wA+th Leukonychia. (25781302)
2014
7
Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. (23960394)
2013
8
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. (22816986)
2012
9
Keratosis follicularis spinulosa decalvans in a female. (21508573)
2011
10
Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. (20959277)
2010
11
Keratosis follicularis spinulosa decalvans: case report. (20944916)
2010
12
Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. (20672378)
2010
13
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. (18984066)
2009
14
Keratosis follicularis spinulosa decalvans in a family. (18280351)
2008
15
Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. (18284270)
2008
16
Familial keratosis follicularis spinulosa decalvans associated with woolly hair. (17651168)
2007
17
Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae. (16197427)
2005
18
Two brothers with keratosis follicularis spinulosa decalvans. (12399750)
2002
19
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
20
Psychomotor retardation - an unusual association of keratosis follicularis spinulosa decalvans. (20877117)
2000
21
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. (9598732)
1998
22
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. (9341865)
1997
23
Cicatricial alopecia and keratosis pilaris. Keratosis follicularis spinulosa decalvans. (9080901)
1997
24
Keratosis follicularis spinulosa decalvans: report of a new pedigree. (8745901)
1996
25
Keratosis follicularis spinulosa decalvans. (20952906)
1995
26
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. (8544196)
1995
27
Keratosis follicularis spinulosa decalvans: report of a case with ultrastructural study and unsuccessful trial of retinoids. (1498376)
1992
28
Keratosis pilaris and scarring alopecia. Keratosis follicularis spinulosa decalvans. (1550376)
1992
29
Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. (1552542)
1992
30
Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family. (1350668)
1992
31
Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. (1550124)
1992
32
Keratosis follicularis spinulosa decalvans with birefringent hairs. An association with variable keratoderma. (2975234)
1988
33
Keratosis follicularis spinulosa decalvans. Report of two cases and literature review. (6336927)
1983
34
Keratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections. (646399)
1978
35
Keratosis follicularis spinulosa decalvans in a family from northern Finland. (4101047)
1971

Variations for Keratosis Follicularis Spinulosa Decalvans

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Expression for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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

Pathways for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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GO Terms for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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Biological processes related to Keratosis Follicularis Spinulosa Decalvans according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron projection developmentGO:00109779.3LRP1, PMP22

Sources for Keratosis Follicularis Spinulosa Decalvans

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet