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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
keratosis, familial actinic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 148390
MedGen 43 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

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 abnormality of the skin 33 HP:0000951
3 uterine neoplasm 33 HP:0010784
4 carcinoma 33 HP:0030731

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin

Publications for Keratosis, Familial Actinic

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
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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