MCID: KRT014
MIFTS: 26

Keratosis Follicularis Spinulosa Decalvans

Categories: Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

MalaCards integrated aliases for Keratosis Follicularis Spinulosa Decalvans:

Name: Keratosis Follicularis Spinulosa Decalvans 53 59 37 13
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 73
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 53
Keratosis Follicularis Spinulosa Decalvans, X-Linked 73
Kfsd 53

Characteristics:

Orphanet epidemiological data:

59
keratosis follicularis spinulosa decalvans
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA2340
MESH via Orphanet 45 C536159
UMLS via Orphanet 74 C0343057
ICD10 via Orphanet 34 Q82.8
KEGG 37 H00750

Summaries for Keratosis Follicularis Spinulosa Decalvans

NIH Rare Diseases : 53 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.

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 photophobia 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 : 76 Keratosis follicularis spinulosa decalvans (also known as \"Siemens-1 syndrome\") is a rare X-linked... more...

Related Diseases for Keratosis Follicularis Spinulosa Decalvans

Graphical network of the top 20 diseases related to Keratosis Follicularis Spinulosa Decalvans:



Diseases related to Keratosis Follicularis Spinulosa Decalvans

Symptoms & Phenotypes for Keratosis Follicularis Spinulosa Decalvans

UMLS symptoms related to Keratosis Follicularis Spinulosa Decalvans:


photophobia

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans

Search Clinical Trials , NIH Clinical Center for Keratosis Follicularis Spinulosa Decalvans

Genetic Tests for Keratosis Follicularis Spinulosa Decalvans

Anatomical Context for Keratosis Follicularis Spinulosa Decalvans

MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans:

41
Skin, Eye

Publications for Keratosis Follicularis Spinulosa Decalvans

Articles related to Keratosis Follicularis Spinulosa Decalvans:

(show all 38)
# Title Authors Year
1
Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. ( 29951998 )
2018
2
A rare presentation of keratosis follicularis spinulosa decalvans in female twins. ( 28928337 )
2017
3
Keratosis Follicularis Spinulosa Decalvans with Associated Mental Retardation: Response to Isotretinoin. ( 28932071 )
2017
4
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. ( 27663151 )
2016
5
Keratosis follicularis spinulosa decalvans. ( 26765129 )
2016
6
Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases. ( 26622157 )
2015
7
Substance P in keratosis follicularis spinulosa decalvans. ( 27051769 )
2015
8
Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin. ( 26515859 )
2015
9
Keratosis Follicularis Spinulosa Decalvans Associated wA+th Leukonychia. ( 25781302 )
2014
10
Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. ( 23960394 )
2013
11
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. ( 22816986 )
2012
12
Keratosis follicularis spinulosa decalvans in a female. ( 21508573 )
2011
13
Keratosis follicularis spinulosa decalvans: case report. ( 20944916 )
2010
14
Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. ( 20672378 )
2010
15
Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. ( 20959277 )
2010
16
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. ( 18984066 )
2009
17
Keratosis follicularis spinulosa decalvans in a family. ( 18280351 )
2008
18
Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. ( 18284270 )
2008
19
Familial keratosis follicularis spinulosa decalvans associated with woolly hair. ( 17651168 )
2007
20
Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae. ( 16197427 )
2005
21
Two brothers with keratosis follicularis spinulosa decalvans. ( 12399750 )
2002
22
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
23
Psychomotor retardation - an unusual association of keratosis follicularis spinulosa decalvans. ( 20877117 )
2000
24
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. ( 9598732 )
1998
25
Cicatricial alopecia and keratosis pilaris. Keratosis follicularis spinulosa decalvans. ( 9080901 )
1997
26
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. ( 9341865 )
1997
27
Keratosis follicularis spinulosa decalvans: report of a new pedigree. ( 8745901 )
1996
28
Keratosis follicularis spinulosa decalvans. ( 20952906 )
1995
29
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. ( 8544196 )
1995
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
Keratosis pilaris and scarring alopecia. Keratosis follicularis spinulosa decalvans. ( 1550376 )
1992
32
Keratosis follicularis spinulosa decalvans: report of a case with ultrastructural study and unsuccessful trial of retinoids. ( 1498376 )
1992
33
Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. ( 1550124 )
1992
34
Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. ( 1552542 )
1992
35
Keratosis follicularis spinulosa decalvans with birefringent hairs. An association with variable keratoderma. ( 2975234 )
1988
36
Keratosis follicularis spinulosa decalvans. Report of two cases and literature review. ( 6336927 )
1983
37
Keratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections. ( 646399 )
1978
38
Keratosis follicularis spinulosa decalvans in a family from northern Finland. ( 4101047 )
1971

Variations for Keratosis Follicularis Spinulosa Decalvans

ClinVar genetic disease variations for Keratosis Follicularis Spinulosa Decalvans:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MBTPS2 NM_015884.3(MBTPS2): c.1523A> G (p.Asn508Ser) single nucleotide variant Pathogenic rs587776867 GRCh37 Chromosome X, 21900736: 21900736
2 MBTPS2 NM_015884.3(MBTPS2): c.1523A> G (p.Asn508Ser) single nucleotide variant Pathogenic rs587776867 GRCh38 Chromosome X, 21882618: 21882618

Expression for Keratosis Follicularis Spinulosa Decalvans

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

Pathways for Keratosis Follicularis Spinulosa Decalvans

GO Terms for Keratosis Follicularis Spinulosa Decalvans

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron projection development GO:0010977 8.62 LRP1 PMP22

Sources for Keratosis Follicularis Spinulosa Decalvans

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
46 MGI
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50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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