KFSD
MCID: KRT014
MIFTS: 31

Keratosis Follicularis Spinulosa Decalvans (KFSD)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

MalaCards integrated aliases for Keratosis Follicularis Spinulosa Decalvans:

Name: Keratosis Follicularis Spinulosa Decalvans 12 74 20 58 36 15 39
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 71
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 20
Keratosis Follicularis Spinulosa Decalvans, X-Linked 71
Kfsd 20

Characteristics:

Orphanet epidemiological data:

58
keratosis follicularis spinulosa decalvans
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080753
KEGG 36 H00750
MESH via Orphanet 45 C536159
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0343057
Orphanet 58 ORPHA2340
UMLS 71 C2748527 C3887525

Summaries for Keratosis Follicularis Spinulosa Decalvans

GARD : 20 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 pilaris atrophicans 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), and among its related pathways/superpathways is Peroxisome. Affiliated tissues include skin.

Disease Ontology : 12 A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma.

KEGG : 36 Keratosis follicularis spinulosa decalvans (KFSD) is a rare genodermatosis characterized by hyperkeratotic follicular papules with progressive alopecia of the scalp and photophobia. It is initially described as a X-linked disorder with typical palmoplantar keratoderma, but autosomal dominant form with marked erythema has been reported as well.

Wikipedia : 74 Keratosis follicularis spinulosa decalvans is a rare X-linked disorder described by Siemens in 1926, a... more...

Related Diseases for Keratosis Follicularis Spinulosa Decalvans

Diseases in the Keratosis Follicularis Spinulosa Decalvans family:

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 keratosis pilaris atrophicans 32.2 SPG21 PEX16 LRP1 DUSP11
2 keratosis 31.9 SAT1 MBTPS2 LRP1
3 darier-white disease 31.6 SAT1 MBTPS2
4 keratosis follicularis spinulosa decalvans, x-linked 12.2
5 keratosis follicularis spinulosa decalvans, autosomal dominant 12.0
6 ichthyosis follicularis atrichia photophobia syndrome 11.5
7 alopecia 11.0
8 corneal dystrophy 10.7
9 palmoplantar keratosis 10.6
10 folliculitis 10.6
11 hypotrichosis 10.6
12 ichthyosis 10.5
13 acne 10.5
14 erythrokeratoderma ''en cocardes'' 10.5
15 ige responsiveness, atopic 10.3
16 keratitis, hereditary 10.3
17 down syndrome 10.3
18 46,xy sex reversal 2 10.3
19 branchiootic syndrome 1 10.3
20 patent ductus arteriosus 1 10.3
21 familial woolly hair syndrome 10.3
22 bacterial infectious disease 10.3
23 corneal degeneration 10.3
24 skin atrophy 10.3
25 tinea capitis 10.3
26 gingival hypertrophy 10.3
27 dermatophytosis 10.3
28 stomatitis 10.3
29 craniosynostosis with fibular aplasia 10.0
30 coffin-lowry syndrome 10.0
31 retinoschisis 1, x-linked, juvenile 10.0
32 hypophosphatemic rickets, x-linked recessive 9.9
33 rickets 9.9
34 x-linked congenital retinoschisis 9.9
35 juvenile retinoschisis 9.9
36 acatalasemia 9.8 PEX3 PEX19
37 zellweger spectrum disorder 9.7 PEX3 PEX19 PEX16
38 peroxisome biogenesis disorder 1a 9.7 PEX3 PEX19 PEX16
39 peroxisomal disease 9.7 PEX3 PEX19 PEX16
40 chondrodysplasia punctata syndrome 9.7 PEX19 PEX16 ACAA1
41 neonatal adrenoleukodystrophy 9.7 PEX3 PEX19 PEX16
42 adrenoleukodystrophy 9.6 PEX3 PEX19 PEX16
43 leukodystrophy 9.6 PEX3 PEX19 PEX16
44 peroxisomal biogenesis disorder 9.5 PEX3 PEX19 PEX16 ACAA1
45 refsum disease, classic 9.5 PEX3 PEX19 PEX16 ACAA1
46 rhizomelic chondrodysplasia punctata 9.5 PEX3 PEX19 PEX16 ACAA1
47 peroxisome biogenesis disorder 1b 9.5 PEX3 PEX19 PEX16 ACAA1
48 zellweger syndrome 9.4 PEX3 PEX19 PEX16 ACAA1

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:

40
Skin

Publications for Keratosis Follicularis Spinulosa Decalvans

Articles related to Keratosis Follicularis Spinulosa Decalvans:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. 61 6
23316014 2013
2
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. 6 61
20672378 2010
3
Keratosis follicularis spinulosa decalvans: report of a new pedigree. 61 6
8745901 1996
4
Evaluation of the equation for predicting dry matter intake of lactating dairy cows in the Korean feeding standards for dairy cattle. 61
33171026 2020
5
Successful Treatment of Keratosis Follicularis Spinulosa Decalvans With an 800-nm Diode Laser. 61
30893172 2020
6
Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. 61
29951998 2019
7
A rare presentation of keratosis follicularis spinulosa decalvans in female twins. 61
28928337 2018
8
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. 61
29204395 2017
9
Keratosis Follicularis Spinulosa Decalvans with Associated Mental Retardation: Response to Isotretinoin. 61
28932071 2017
10
Lichenoid folliculitis: A unifying concept. 61
28345255 2017
11
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. 61
28061825 2017
12
Primary cicatricial alopecia: Other lymphocytic primary cicatricial alopecias and neutrophilic and mixed primary cicatricial alopecias. 61
27846945 2016
13
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. 61
27663151 2016
14
Keratosis follicularis spinulosa decalvans. 61
26765129 2016
15
Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin. 61
26515859 2015
16
Substance P in keratosis follicularis spinulosa decalvans. 61
27051769 2015
17
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2. 61
25683132 2015
18
Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases. 61
26622157 2015
19
Red face revisited: Disorders of hair growth and the pilosebaceous unit. 61
25441472 2014
20
Keratosis Follicularis Spinulosa Decalvans Associated wıth Leukonychia. 61
25781302 2014
21
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. 61
24313295 2014
22
Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. 61
23960394 2013
23
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. 61
22816986 2012
24
Keratosis follicularis spinulosa decalvans in a female. 61
21508573 2011
25
Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. 61
20959277 2010
26
Keratosis follicularis spinulosa decalvans: case report. 61
20944916 2010
27
[Case for diagnosis]. 61
20098861 2009
28
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. 61
19326693 2009
29
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. 61
18984066 2009
30
Spermidine/spermine-N(1)-acetyltransferase: a key metabolic regulator. 61
18349109 2008
31
Keratosis follicularis spinulosa decalvans in a family. 61
18280351 2008
32
[Keratosis follicularis spinulosa decalvans]. 61
17551700 2008
33
Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. 61
18284270 2008
34
Diagnosis and management of primary cicatricial alopecia: part I. 61
18174797 2008
35
Familial keratosis follicularis spinulosa decalvans associated with woolly hair. 61
17651168 2007
36
Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae. 61
16197427 2005
37
Systematic genome-wide approach to positional candidate cloning for identification of novel human disease genes. 61
15030454 2004
38
The molecular genetics of the corneal dystrophies--current status. 61
12700042 2003
39
Two brothers with keratosis follicularis spinulosa decalvans. 61
12399750 2002
40
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). 61
12215835 2002
41
Keratosis pilaris atrophicans in mother and daughter. 61
12224702 2002
42
Psychomotor retardation - an unusual association of keratosis follicularis spinulosa decalvans. 61
20877117 2000
43
[Keratosis follicularis spinulosa decalvans associated with patent ductus arteriosus and hypospadia in an Asiatic patient]. 61
10354925 1999
44
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. 61
9598732 1998
45
[Keratosis follicularis spinulosa decalvans]. 61
9522196 1998
46
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. 61
9341865 1997
47
High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes. 61
9195994 1997
48
Cicatricial alopecia and keratosis pilaris. Keratosis follicularis spinulosa decalvans. 61
9080901 1997
49
An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 61
8744027 1996
50
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. 61
8544196 1995

Variations for Keratosis Follicularis Spinulosa Decalvans

ClinVar genetic disease variations for Keratosis Follicularis Spinulosa Decalvans:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MBTPS2 NM_015884.4(MBTPS2):c.1523A>G (p.Asn508Ser) SNV Pathogenic 29956 rs587776867 X:21900736-21900736 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

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

# Super pathways Score Top Affiliating Genes
1 10.84 PEX3 PEX19 PEX16 ACAA1

GO Terms for Keratosis Follicularis Spinulosa Decalvans

Cellular components related to Keratosis Follicularis Spinulosa Decalvans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of peroxisomal membrane GO:0005779 9.16 PEX3 PEX16
2 peroxisomal membrane GO:0005778 9.13 PEX3 PEX19 PEX16
3 peroxisome GO:0005777 8.92 PEX3 PEX19 PEX16 ACAA1

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.67 MBTPS2 LRP1 ACOT1 ACAA1
2 protein targeting to peroxisome GO:0006625 9.43 PEX19 PEX16 ACAA1
3 peroxisome organization GO:0007031 9.33 PEX3 PEX19 PEX16
4 very long-chain fatty acid metabolic process GO:0000038 9.32 ACOT1 ACAA1
5 protein import into peroxisome membrane GO:0045046 9.13 PEX3 PEX19 PEX16
6 peroxisome membrane biogenesis GO:0016557 8.8 PEX3 PEX19 PEX16

Sources for Keratosis Follicularis Spinulosa Decalvans

3 CDC
7 CNVD
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11 DGIdb
17 EFO
18 ExPASy
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20 GARD
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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