MCID: KRT057
MIFTS: 26

Keratosis Follicularis Spinulosa Decalvans, X-Linked malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases categories

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

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 48Orphanet, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Keratosis Follicularis Spinulosa Decalvans, X-Linked:

Name: Keratosis Follicularis Spinulosa Decalvans, X-Linked 46
Keratosis Follicularis Spinulosa Decalvans 46 9 42 48
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 61
 
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 42
Kfsd 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
keratosis follicularis spinulosa decalvans:
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Childhood


External Ids:

OMIM46 308800
Orphanet48 2340
MESH via Orphanet34 C536159
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet62 C0343057

Summaries for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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NIH Rare Diseases:42 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, X-Linked, also known as keratosis follicularis spinulosa decalvans, is related to keratosis and alopecia, and has symptoms including hyperkeratosis, alopecia and ichthyosis. An important gene associated with Keratosis Follicularis Spinulosa Decalvans, X-Linked is MBTPS2 (membrane-bound transcription factor peptidase, site 2), and among its related pathways is Metabolism. Affiliated tissues include skin and eye.

OMIM:46 Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis... (308800) more...

Wikipedia:64 Keratosis follicularis spinulosa decalvans (also known as \"Siemens-1 syndrome\") is a rare X-linked... more...

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
1keratosis11.3
2alopecia10.8
3acne10.7
4keratoderma10.7
5folliculitis10.6
6tufted hair folliculitis10.6
7darier disease9.9MBTPS2, 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

Symptoms:

 48 (show all 22)
  • absent/decreased/thin eyebrows
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • ichthyosis/ichthyosiform dermatitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • thick skin/pachydermia/orange skin
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • alopecia
  • autosomal dominant inheritance
  • x-linked recessive inheritance
  • corneal clouding/opacity/vascularisation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • retinal detachment
  • myopia
  • anomalies of eyelids, eyelashes and lacrimal system
  • ectropion/entropion/eyelid eversion
  • blepharitis/eyelid inflammation
  • abnormal fingernails
  • enamel anomaly
  • dental staining anomaly/spotted teeth/erythrodontia
  • multiple caries
  • eczema

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

(show all 31)
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
14 keratitis HP:0000491
15 blepharitis HP:0000498
16 conjunctivitis HP:0000509
17 sparse eyebrow HP:0000535
18 photophobia HP:0000613
19 sparse eyelashes HP:0000653
20 ectropion HP:0000656
21 dry skin HP:0000958
22 palmoplantar keratoderma HP:0000982
23 facial erythema HP:0001041
24 corneal dystrophy HP:0001131
25 x-linked recessive inheritance HP:0001419
26 heterogeneous HP:0001425
27 nail dysplasia HP:0002164
28 scarring alopecia of scalp HP:0004552
29 follicular hyperkeratosis HP:0007502
30 dystrophic fingernails HP:0008391
31 perifollicular fibrosis HP:0030054

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

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Drug clinical trials:

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

Genetic Tests for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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Anatomical Context for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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

31
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:

63
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 variantPathogenicGRCh37Chr 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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Pathways related to Keratosis Follicularis Spinulosa Decalvans, X-Linked according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MBTPS2, SAT1

Compounds 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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Biological processes related to Keratosis Follicularis Spinulosa Decalvans, X-Linked according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:00442819.1MBTPS2, SAT1

Sources for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet