KFSDX
MCID: KRT057
MIFTS: 24

Keratosis Follicularis Spinulosa Decalvans, X-Linked (KFSDX)

Categories: Eye diseases, Genetic diseases, Skin 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 58 41 74
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 58 76
Kfsdx 58 76
Keratosis Follicularis Spinulosa Decalvans X-Linked 76
Siemens-1 Syndrome 76

Characteristics:

OMIM:

58
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:

33
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 : 58 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 : 76 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 32.3 MBTPS2 SAT1
2 keratosis follicularis spinulosa decalvans, autosomal dominant 11.2
3 keratosis 9.8 MBTPS2 SAT1
4 corneal degeneration 9.7 MBTPS2 SAT1
5 blepharitis 9.7 MBTPS2 SAT1
6 ectropion 9.7 MBTPS2 SAT1
7 hair disease 9.6 MBTPS2 SAT1
8 perrault syndrome 1 9.5 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

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

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 abnormality of the nail 33 HP:0001597
3 palmoplantar keratoderma 33 HP:0000982
4 corneal dystrophy 33 HP:0001131
5 dry skin 33 HP:0000958
6 keratitis 33 HP:0000491
7 blepharitis 33 HP:0000498
8 conjunctivitis 33 HP:0000509
9 nail dysplasia 33 HP:0002164
10 ectropion 33 HP:0000656
11 follicular hyperkeratosis 33 HP:0007502
12 dystrophic fingernails 33 HP:0008391
13 sparse eyelashes 33 HP:0000653
14 facial erythema 33 HP:0001041
15 scarring alopecia of scalp 33 HP:0004552
16 folliculitis 33 HP:0025084
17 perifollicular fibrosis 33 HP:0030054
18 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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:

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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