MCID: XRD028
MIFTS: 11

Xeroderma Pigmentosum, Autosomal Dominant, Mild

Categories: Skin diseases

Aliases & Classifications for Xeroderma Pigmentosum, Autosomal Dominant, Mild

MalaCards integrated aliases for Xeroderma Pigmentosum, Autosomal Dominant, Mild:

Name: Xeroderma Pigmentosum, Autosomal Dominant, Mild 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant vs. multifactorial form
usually autosomal recessive


HPO:

31
xeroderma pigmentosum, autosomal dominant, mild:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Autosomal Dominant, Mild

MalaCards based summary : Xeroderma Pigmentosum, Autosomal Dominant, Mild Affiliated tissues include skin, and related phenotypes are erythema and neoplasm of the skin

More information from OMIM: 194400

Related Diseases for Xeroderma Pigmentosum, Autosomal Dominant, Mild

Symptoms & Phenotypes for Xeroderma Pigmentosum, Autosomal Dominant, Mild

Human phenotypes related to Xeroderma Pigmentosum, Autosomal Dominant, Mild:

31
# Description HPO Frequency HPO Source Accession
1 erythema 31 HP:0010783
2 neoplasm of the skin 31 HP:0008069
3 freckling 31 HP:0001480
4 hyperpigmentation of the skin 31 HP:0000953
5 defective dna repair after ultraviolet radiation damage 31 HP:0003079

Symptoms via clinical synopsis from OMIM:

56
Skin:
freckling
hyperpigmentation
xeroderma pigmentosum
multiple skin cancers
squamous epitheliomas
more
Lab:
variable cellular sensitivity to ultraviolet light

Misc:
milder than recessive form

Clinical features from OMIM:

194400

Drugs & Therapeutics for Xeroderma Pigmentosum, Autosomal Dominant, Mild

Search Clinical Trials , NIH Clinical Center for Xeroderma Pigmentosum, Autosomal Dominant, Mild

Genetic Tests for Xeroderma Pigmentosum, Autosomal Dominant, Mild

Anatomical Context for Xeroderma Pigmentosum, Autosomal Dominant, Mild

MalaCards organs/tissues related to Xeroderma Pigmentosum, Autosomal Dominant, Mild:

40
Skin

Publications for Xeroderma Pigmentosum, Autosomal Dominant, Mild

Articles related to Xeroderma Pigmentosum, Autosomal Dominant, Mild:

# Title Authors PMID Year
1
Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum. 56
3950938 1986
2
An autosomal dominant inheritance for multiple sunlight-induced malignancy in a patient without abnormalities in DNA repair or replication. Repository identification No. GM2881. 56
7471819 1981

Variations for Xeroderma Pigmentosum, Autosomal Dominant, Mild

Expression for Xeroderma Pigmentosum, Autosomal Dominant, Mild

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Autosomal Dominant, Mild.

Pathways for Xeroderma Pigmentosum, Autosomal Dominant, Mild

GO Terms for Xeroderma Pigmentosum, Autosomal Dominant, Mild

Sources for Xeroderma Pigmentosum, Autosomal Dominant, Mild

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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