MCID: KRT014
MIFTS: 31

Keratosis Follicularis Spinulosa Decalvans malady

Categories: Rare diseases, Eye diseases, Skin diseases

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

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Sources:
65UMLS, 45NIH Rare Diseases, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Keratosis Follicularis Spinulosa Decalvans:

Name: Keratosis Follicularis Spinulosa Decalvans 45 51
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 65
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 45
 
Keratosis Follicularis Spinulosa Decalvans, X-Linked 65
Kfsd 45

Characteristics:

Orphanet epidemiological data:

51
keratosis follicularis spinulosa decalvans:
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 2340
ICD10 via Orphanet28 Q82.8
MESH via Orphanet37 C536159
UMLS via Orphanet66 C0343057
UMLS65 C3887525, C2748527

Summaries for Keratosis Follicularis Spinulosa Decalvans

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NIH Rare Diseases:45 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, also known as keratosis follicularis spinulosa decalvans, autosomal dominant, is related to keratosis follicularis spinulosa decalvans, x-linked and lung cancer, and has symptoms including hyperkeratosis, alopecia and ichthyosis. An important gene associated with Keratosis Follicularis Spinulosa Decalvans is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2). Affiliated tissues include skin, eye and bone.

Wikipedia:68 Keratosis follicularis spinulosa decalvans (also known as \"Siemens-1 syndrome\") is a rare X-linked... more...

Related Diseases for Keratosis Follicularis Spinulosa Decalvans

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



Diseases related to keratosis follicularis spinulosa decalvans

Symptoms for Keratosis Follicularis Spinulosa Decalvans

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Symptoms:

 51 (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:

(show all 13)
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

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Keratosis Follicularis Spinulosa Decalvans

Genetic Tests for Keratosis Follicularis Spinulosa Decalvans

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Anatomical Context for Keratosis Follicularis Spinulosa Decalvans

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MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans:

33
Skin, Eye, Bone, Thyroid, B cells, Cervix, Testis

Animal Models for Keratosis Follicularis Spinulosa Decalvans or affiliated genes

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Publications for Keratosis Follicularis Spinulosa Decalvans

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Articles related to Keratosis Follicularis Spinulosa Decalvans:

(show all 31)
idTitleAuthorsYear
1
The Evaluation of WBP2NL-Related Genes Expression in Breast Cancer. (25417742)
2015
2
Esophagectomy for a rapidly progressing esophageal duplication cyst. (25841854)
2015
3
Appropriate dosing of adjuvant radioactive iodine for differentiated thyroid cancer. (24225414)
2014
4
SV40 utilizes ATM kinase activity to prevent non-homologous end joining of broken viral DNA replication products. (25474690)
2014
5
Dengue Viral Myositis Complicated with Rhabdomyolysis and Superinfection of Methicillin-Resistant Staphylococcus aureus. (23476836)
2013
6
The clinical and audiologic features of hearing loss due to mitochondrial mutations. (23525847)
2013
7
Minireview: Glucagon in the pathogenesis of hypoglycemia and hyperglycemia in diabetes. (22166985)
2012
8
The pan-B cell marker CD22 is expressed on gastrointestinal eosinophils and negatively regulates tissue eosinophilia. (22190185)
2012
9
Aggregatibacter actinomycetemcomitans targets NLRP3 and NLRP6 inflammasome expression in human mononuclear leukocytes. (22503597)
2012
10
De novo SCN1A mutations in migrating partial seizures of infancy. (21753172)
2011
11
Interleukin-6 and its considerable role in the pathogenesis of thyrotoxicosis-related disturbances of bone turnover in postmenopausal women. (21879468)
2011
12
Expression patterns of Trk-A, Trk-B, GRP78, and p75NRT in olfactory neuroblastoma. (19386345)
2009
13
Origin of Aymaras from Bolivia and their relationship with other Amerindians according to HLA genes. (15787722)
2005
14
A multi-functional, portable device with wireless transmission for home monitoring of children with a learning disability. (15494089)
2004
15
Influence of human T lymphotrophic virus type I on cryptogenic fibrosing alveolitis - HTLV-I associated fibrosing alveolitis: proposal of a new clinical entity. (12930367)
2003
16
Group-II phospholipase A(2) enhances oxidized low density lipoprotein-induced macrophage growth through enhancement of GM-CSF release. (11058698)
2000
17
Extended right hepatic lobectomy with resection of inferior vena cava and portal vein for intrahepatic cholangiocarcinoma. (11180893)
2000
18
Distinct structural requirements for clustering and immobilization of K+ channels by PSD-95. (9874689)
1999
19
Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. (9430698)
1998
20
Germ cell tumors of the mediastinum and testis: a comparative immunohistochemical study of 120 cases. (9670832)
1998
21
Platelet-derived growth factor-dependent activation of phosphatidylinositol 3-kinase is regulated by receptor binding of SH2-domain-containing proteins which influence Ras activity. (8816504)
1996
22
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. (7825577)
1995
23
Presence, activities, and molecular forms of cathepsin G, elastase, alpha 1-antitrypsin, and alpha 1-antichymotrypsin in bronchiectasis. (7759598)
1995
24
Comparative study of HPV infection and proliferating cell nuclear antigen of uterine cervix]. (8103785)
1993
25
Synergism between transcription factors NF-IL6 and NF-kappa B in IL-6 gene regulation]. (1427600)
1992
26
Genetic diversity within the HLA class II region: ten new DPB1 alleles and their population distribution. (1440570)
1992
27
Effect of the protein kinase C activating agent bryostatin 1 on the clonogenic response of leukemic blast progenitors to recombinant granulocyte-macrophage colony-stimulating factor. (2033960)
1991
28
Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood. Report on two cases with remarks on the nature of the liver storage process. (2106753)
1990
29
Sterile hypopyon secondary to ultrasonic cleaning solution. (3712261)
1986
30
Hydrocortisone therapy in meconium aspiration syndrome: a controlled study. (830880)
1977
31
Conservative management of chronic cervicitis. (15404319)
1950

Variations for Keratosis Follicularis Spinulosa Decalvans

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Expression for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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

Pathways for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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GO Terms for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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Sources for Keratosis Follicularis Spinulosa Decalvans

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet