MCID: KRT070
MIFTS: 10

Keratosis, Familial Actinic

Categories: Cancer diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Keratosis, Familial Actinic

MalaCards integrated aliases for Keratosis, Familial Actinic:

Name: Keratosis, Familial Actinic 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
keratosis, familial actinic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 148390
MedGen 41 C2675099

Summaries for Keratosis, Familial Actinic

MalaCards based summary : Keratosis, Familial Actinic Affiliated tissues include skin, and related phenotypes are abnormality of metabolism/homeostasis and abnormality of the skin

More information from OMIM: 148390

Related Diseases for Keratosis, Familial Actinic

Diseases in the Actinic Keratosis family:

Keratosis, Familial Actinic

Symptoms & Phenotypes for Keratosis, Familial Actinic

Human phenotypes related to Keratosis, Familial Actinic:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 abnormality of the skin 31 HP:0000951
3 uterine neoplasm 31 HP:0010784
4 carcinoma 31 HP:0030731

Symptoms via clinical synopsis from OMIM:

56
Skin:
cutaneous pigmented actinic keratoses

Lab:
fibroblasts show gross cytopathic changes, low survival indices, and increased dna single-strand break frequency following long-wave ultraviolet radiation exposure

Oncology:
internal malignancies
uterine carcinoma

Clinical features from OMIM:

148390

Drugs & Therapeutics for Keratosis, Familial Actinic

Search Clinical Trials , NIH Clinical Center for Keratosis, Familial Actinic

Genetic Tests for Keratosis, Familial Actinic

Anatomical Context for Keratosis, Familial Actinic

MalaCards organs/tissues related to Keratosis, Familial Actinic:

40
Skin

Publications for Keratosis, Familial Actinic

Articles related to Keratosis, Familial Actinic:

# Title Authors PMID Year
1
Familial keratoses of actinic distribution associated with internal malignancy and cellular hypersensitivity to UVA. 56
2757930 1989

Variations for Keratosis, Familial Actinic

Expression for Keratosis, Familial Actinic

Search GEO for disease gene expression data for Keratosis, Familial Actinic.

Pathways for Keratosis, Familial Actinic

GO Terms for Keratosis, Familial Actinic

Sources for Keratosis, Familial Actinic

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
41 MedGen
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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