MCID: KRT014
MIFTS: 28

Keratosis Follicularis Spinulosa Decalvans malady

Categories: Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

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Sources:
46NIH Rare Diseases, 52Orphanet, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Keratosis Follicularis Spinulosa Decalvans:

Name: Keratosis Follicularis Spinulosa Decalvans 46 52 12
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 66
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 46
 
Keratosis Follicularis Spinulosa Decalvans, X-Linked 66
Kfsd 46

Characteristics:

Orphanet epidemiological data:

52
keratosis follicularis spinulosa decalvans:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood

Classifications:



External Ids:

Orphanet52 ORPHA2340
ICD10 via Orphanet29 Q82.8
MESH via Orphanet38 C536159
UMLS via Orphanet67 C0343057

Summaries for Keratosis Follicularis Spinulosa Decalvans

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NIH Rare Diseases:46 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 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.

Wikipedia:69 Keratosis follicularis spinulosa decalvans (also known as \"Siemens-1 syndrome\") is a rare X-linked... more...

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 14)
idRelated DiseaseScoreTop Affiliating Genes
1keratosis follicularis spinulosa decalvans, x-linked12.7
2keratosis11.1
3alopecia10.6
4keratosis pilaris10.5
5acne10.5
6folliculitis10.4
7tufted hair folliculitis10.4
8autism x-linked 49.8MBTPS2, SAT1
9juvenile spinal muscular atrophy9.8MBTPS2, SAT1
10normal pressure hydrocephalus9.7MBTPS2, SAT1
11breast fibroadenoma9.7MBTPS2, SAT1
12intracranial hypertension9.6MBTPS2, SAT1
13malignant ovarian brenner tumor9.4MBTPS2, SAT1
14ulerythema ophryogenesis8.6LRP1, 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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HPO human phenotypes related to Keratosis Follicularis Spinulosa Decalvans:

(show all 13)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 alopecia hallmark (90%) HP:0001596
3 ichthyosis hallmark (90%) HP:0008064
4 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
5 blepharitis typical (50%) HP:0000498
6 retinal detachment typical (50%) HP:0000541
7 myopia typical (50%) HP:0000545
8 abnormality of the fingernails typical (50%) HP:0001231
9 opacification of the corneal stroma typical (50%) HP:0007759
10 carious teeth occasional (7.5%) HP:0000670
11 abnormality of dental enamel occasional (7.5%) HP:0000682
12 eczema occasional (7.5%) HP:0000964
13 abnormality of dental color 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:

34
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:00109779.1LRP1, PMP22

Sources for Keratosis Follicularis Spinulosa Decalvans

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet