MCID: KRT070
MIFTS: 9

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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
keratosis, familial actinic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 148390
MedGen 42 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:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 abnormality of the skin 32 HP:0000951
3 uterine neoplasm 32 HP:0010784
4 carcinoma 32 HP:0030731

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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