MCID: FML223
MIFTS: 26

Familial Keratoacanthoma

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Keratoacanthoma

MalaCards integrated aliases for Familial Keratoacanthoma:

Name: Familial Keratoacanthoma 58 29 6
Multiple Self-Healing Squamous Epithelioma 71
Hereditary Keratoacanthoma 58
Multiple Keratoacanthoma 58

Characteristics:

Orphanet epidemiological data:

58
familial keratoacanthoma
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 L85.8
UMLS via Orphanet 72 C0546476
Orphanet 58 ORPHA493
UMLS 71 C0546476

Summaries for Familial Keratoacanthoma

MalaCards based summary : Familial Keratoacanthoma, also known as multiple self-healing squamous epithelioma, is related to muir-torre syndrome and pustulosis of palm and sole. An important gene associated with Familial Keratoacanthoma is TGFBR1 (Transforming Growth Factor Beta Receptor 1). Affiliated tissues include skin, and related phenotypes are hyperkeratosis and subcutaneous nodule

Related Diseases for Familial Keratoacanthoma

Diseases in the Keratoacanthoma family:

Familial Keratoacanthoma

Diseases related to Familial Keratoacanthoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 muir-torre syndrome 11.4
2 pustulosis of palm and sole 10.2
3 psoriasis 10.2
4 skin carcinoma 10.2
5 lupus erythematosus 10.2
6 lichen planus 10.2
7 discoid lupus erythematosus 10.2
8 dermatitis 10.1
9 acrokeratosis verruciformis 10.0
10 cutaneous lupus erythematosus 10.0
11 drug allergy 10.0
12 hidradenitis suppurativa 10.0
13 hidradenitis 10.0
14 skin disease 10.0
15 oral lichen planus 10.0
16 renal cell carcinoma, nonpapillary 9.9
17 pachyonychia congenita 1 9.9
18 steatocystoma multiplex 9.9
19 pseudoxanthoma elasticum 9.9
20 malignant atrophic papulosis 9.9
21 juvenile arthritis 9.9
22 inflammatory bowel disease 9.9
23 dowling-degos disease 9.9
24 anhidrosis 9.9
25 squamous cell papilloma 9.9
26 hypothyroidism 9.9
27 ectropion 9.9
28 keratosis 9.9
29 ichthyosis 9.9
30 squamous cell carcinoma 9.9
31 colon adenocarcinoma 9.9
32 basal cell carcinoma 9.9
33 papilloma 9.9
34 epidermolysis bullosa 9.9
35 contact dermatitis 9.9
36 adenocarcinoma 9.9
37 junctional epidermolysis bullosa 9.9
38 neurodermatitis 9.9
39 nodular basal cell carcinoma 9.9
40 hypotrichosis 9.9
41 juvenile rheumatoid arthritis 9.9
42 pemphigus 9.9
43 47,xyy 9.9
44 erythrokeratoderma ''en cocardes'' 9.9
45 lichen planus pemphigoides 9.9
46 pemphigus foliaceus 9.9
47 pustular psoriasis 9.9
48 generalized eruptive keratoacanthoma 9.9
49 multiple self-healing squamous epithelioma 9.8
50 keratoacanthoma 9.8

Graphical network of the top 20 diseases related to Familial Keratoacanthoma:



Diseases related to Familial Keratoacanthoma

Symptoms & Phenotypes for Familial Keratoacanthoma

Human phenotypes related to Familial Keratoacanthoma:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000962
2 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
3 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
4 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
5 adenoma sebaceum 58 31 hallmark (90%) Very frequent (99-80%) HP:0009720
6 papilloma 58 31 frequent (33%) Frequent (79-30%) HP:0012740
7 neoplasm 58 Occasional (29-5%)

Drugs & Therapeutics for Familial Keratoacanthoma

Search Clinical Trials , NIH Clinical Center for Familial Keratoacanthoma

Genetic Tests for Familial Keratoacanthoma

Genetic tests related to Familial Keratoacanthoma:

# Genetic test Affiliating Genes
1 Familial Keratoacanthoma 29 TGFBR1

Anatomical Context for Familial Keratoacanthoma

MalaCards organs/tissues related to Familial Keratoacanthoma:

40
Skin

Publications for Familial Keratoacanthoma

Articles related to Familial Keratoacanthoma:

(show all 22)
# Title Authors PMID Year
1
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant. 61
30513140 2018
2
Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. 61
29706644 2018
3
Late-Onset Multiple Self-Healing Squamous Epithelioma Ferguson-Smith Recurrence Induced by Radiotherapy. 61
28101021 2016
4
Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus. 61
24747516 2014
5
Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology. 61
23358096 2013
6
[Multiple self-healing squamous epithelioma is an inherited self-healing skin cancer condition]. 61
22533930 2012
7
[Multiple self-healing squamous epithelioma, or Ferguson-Smith disease: demonstration of mutations in the TGFβ-receptor]. 61
22078045 2011
8
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 61
21358634 2011
9
Severe exacerbation of multiple self-healing squamous epithelioma (Ferguson-Smith disease) with radiotherapy, which was successfully treated with acitretin. 61
19874360 2010
10
Multiple self-healing squamous epithelioma of Ferguson-Smith: observations in a Danish family covering four generations. 61
18176752 2008
11
Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder? 61
17554363 2007
12
The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity. 61
16170343 2006
13
The "sins" of the fathers: self-healing squamous epithelioma in Scotland. 61
10366398 1999
14
Multiple familial keratoacanthoma of Witten and Zak - A report of three siblings. 61
10449942 1999
15
Four tumor suppressor loci on chromosome 9q in bladder cancer: evidence for two novel candidate regions at 9q22.3 and 9q31. 61
9926930 1999
16
A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. 61
9722951 1998
17
Desmoglein in multiple self-healing squamous epithelioma of Ferguson-Smith--comparison of staining patterns with actinic keratoacanthoma and squamous cell carcinoma of the skin. 61
9705163 1998
18
Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes. 61
9439661 1997
19
Evidence for two tumor suppressor loci associated with proximal chromosome 9p to q and distal chromosome 9q in bladder cancer and the initial screening for GAS1 and PTC mutations. 61
8895761 1996
20
A genetic linkage map of human chromosome 9q. 61
1427899 1992
21
Transfer factor II: results of therapy. 61
1096990 1975
22
Multiple self-healing squamous epithelioma. 61
5173258 1971

Variations for Familial Keratoacanthoma

ClinVar genetic disease variations for Familial Keratoacanthoma:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TGFBR1 NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)SNV Pathogenic 12526 rs111426349 9:101911534-101911534 9:99149252-99149252
2 TGFBR1 NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter)SNV Pathogenic 29918 rs387906697 9:101908876-101908876 9:99146594-99146594
3 TGFBR1 NM_004612.4(TGFBR1):c.806-2A>CSNV risk factor 29917 rs587776866 9:101904816-101904816 9:99142534-99142534
4 TGFBR1 NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)SNV Uncertain significance 213899 rs200018073 9:101900179-101900179 9:99137897-99137897
5 TGFBR1 NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)SNV Uncertain significance 29915 rs387906696 9:101891173-101891173 9:99128891-99128891
6 TGFBR1 NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg)SNV Uncertain significance 29916 rs587776865 9:101891193-101891193 9:99128911-99128911

Expression for Familial Keratoacanthoma

Search GEO for disease gene expression data for Familial Keratoacanthoma.

Pathways for Familial Keratoacanthoma

GO Terms for Familial Keratoacanthoma

Sources for Familial Keratoacanthoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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