MCID: KRT057
MIFTS: 23

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Categories: Genetic diseases

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

MalaCards integrated aliases for Keratosis Follicularis Spinulosa Decalvans, X-Linked:

Name: Keratosis Follicularis Spinulosa Decalvans, X-Linked 57 40 73
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 57 75
Kfsdx 57 75
Keratosis Follicularis Spinulosa Decalvans X-Linked 75
Siemens-1 Syndrome 75

Characteristics:

OMIM:

57
Miscellaneous:
genetic heterogeneity
onset in infancy or early childhood
carrier females may have mild features
allelic disorder to ifap syndrome

Inheritance:
x-linked recessive


HPO:

32
keratosis follicularis spinulosa decalvans, x-linked:
Inheritance heterogeneous x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Keratosis Follicularis Spinulosa Decalvans, X-Linked

OMIM : 57 Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). Autosomal dominant inheritance has also been reported (KFSD; 612843). The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair. (308800)

MalaCards based summary : Keratosis Follicularis Spinulosa Decalvans, X-Linked, also known as keratosis follicularis spinulosa decalvans cum ophiasi, is related to keratosis follicularis spinulosa decalvans and keratosis follicularis spinulosa decalvans, autosomal dominant, and has symptoms including photophobia An important gene associated with Keratosis Follicularis Spinulosa Decalvans, X-Linked is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2). Affiliated tissues include skin and eye, and related phenotypes are photophobia and abnormality of the nail

UniProtKB/Swiss-Prot : 75 Keratosis follicularis spinulosa decalvans X-linked: A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration.

Related Diseases for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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

# Related Disease Score Top Affiliating Genes
1 keratosis follicularis spinulosa decalvans 31.6 MBTPS2 SAT1
2 keratosis follicularis spinulosa decalvans, autosomal dominant 11.0
3 corneal degeneration 9.4 MBTPS2 SAT1
4 blepharitis 9.3 MBTPS2 SAT1
5 hair disease 9.2 MBTPS2 SAT1
6 keratosis 9.0 MBTPS2 SAT1

Graphical network of the top 20 diseases related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:



Diseases related to Keratosis Follicularis Spinulosa Decalvans, X-Linked

Symptoms & Phenotypes for Keratosis Follicularis Spinulosa Decalvans, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
corneal dystrophy
keratitis
blepharitis
conjunctivitis
more
Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
alopecia, beginning in the occiput
scarring alopecia

Skin Nails Hair Nails:
dystrophic nails

Skin Nails Hair Skin:
palmoplantar keratoderma
keratosis pilaris
folliculitis
dry, bumpy skin
follicular hyperkeratotic papules
more
Head And Neck Face:
facial erythema

Skin Nails Hair Skin Histology:
epidermal hyperplasia
perifollicular inflammatory infiltrate
perifollicular fibrosis


Clinical features from OMIM:

308800

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

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 abnormality of the nail 32 HP:0001597
3 palmoplantar keratoderma 32 HP:0000982
4 corneal dystrophy 32 HP:0001131
5 dry skin 32 HP:0000958
6 keratitis 32 HP:0000491
7 blepharitis 32 HP:0000498
8 conjunctivitis 32 HP:0000509
9 nail dysplasia 32 HP:0002164
10 ectropion 32 HP:0000656
11 dystrophic fingernails 32 HP:0008391
12 sparse eyelashes 32 HP:0000653
13 follicular hyperkeratosis 32 HP:0007502
14 facial erythema 32 HP:0001041
15 scarring alopecia of scalp 32 HP:0004552
16 folliculitis 32 HP:0025084
17 perifollicular fibrosis 32 HP:0030054
18 sparse and thin eyebrow 32 HP:0000535

UMLS symptoms related to Keratosis Follicularis Spinulosa Decalvans, X-Linked:


photophobia

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

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

Genetic Tests for Keratosis Follicularis Spinulosa Decalvans, X-Linked

Anatomical Context for Keratosis Follicularis Spinulosa Decalvans, X-Linked

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

41
Skin, Eye

Publications for Keratosis Follicularis Spinulosa Decalvans, X-Linked

Variations for Keratosis Follicularis Spinulosa Decalvans, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Keratosis Follicularis Spinulosa Decalvans, X-Linked:

75
# Symbol AA change Variation ID SNP ID
1 MBTPS2 p.Asn508Ser VAR_064409 rs587776867

ClinVar genetic disease variations for Keratosis Follicularis Spinulosa Decalvans, X-Linked:

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, X-Linked

Search GEO for disease gene expression data for Keratosis Follicularis Spinulosa Decalvans, X-Linked.

Pathways for Keratosis Follicularis Spinulosa Decalvans, X-Linked

GO Terms for Keratosis Follicularis Spinulosa Decalvans, X-Linked

Sources for Keratosis Follicularis Spinulosa Decalvans, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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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