MCID: XRD010
MIFTS: 68

Xeroderma Pigmentosum, Variant Type

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

MalaCards integrated aliases for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 57 76 53 29 13 6 40
Xeroderma Pigmentosum 12 76 24 53 25 37 29 13 55 6 44 15
Xpv 57 12 53 59 75
Xeroderma Pigmentosum with Normal Dna Repair Rates 57 12 53 75
Photosensitivity with Defective Dna Synthesis 57 12 53
Xeroderma Pigmentosum Variant Type 12 75 15
Xp 53 25
De Sanctis-Cacchione Syndrome 73
Xeroderma Pigmentosum Variant 59
Desanctis-Cacchione Syndrome 25
Xeroderma Pigmentosa 53

Characteristics:

Orphanet epidemiological data:

59
xeroderma pigmentosum variant
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
xeroderma pigmentosum, variant type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Variant Type

NIH Rare Diseases : 53 Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop by the time a child is 2 years old. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least nine genes have been identified. The condition is inherited in an autosomal recessive manner. People with XP need total protection from sunlight. This includes protective clothing, sunscreen, and dark sunglasses when out in the sun. To prevent skin cancer, medications like retinoid creams may be prescribed. Skin cancers that do develop should be treated using standard practices.

MalaCards based summary : Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, complementation group c and xeroderma pigmentosum, complementation group f. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways/superpathways are Nucleotide excision repair and DNA Double-Strand Break Repair. The drugs Lenalidomide and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are photophobia and dry skin

OMIM : 57 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA (278700). Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair (Lehman et al., 1975). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation (Masutani et al., 1999). So-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites (Cleaver et al., 1980). (278750)

UniProtKB/Swiss-Prot : 75 Xeroderma pigmentosum variant type: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Genetics Home Reference : 25 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

Disease Ontology : 12 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair.

Wikipedia : 76 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

GeneReviews:

Related Diseases for Xeroderma Pigmentosum, Variant Type

Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group c 34.9 CETN2 DDB2 ERCC3 RAD23B XPA XPC
2 xeroderma pigmentosum, complementation group f 34.4 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B
3 xeroderma pigmentosum, complementation group g 34.4 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
4 xeroderma pigmentosum, complementation group a 32.8 ERCC1 POLH XPA
5 xeroderma pigmentosum group e 30.4 DDB1 DDB2 ERCC1 POLH RAD23B XPA
6 chromosome xp deletion 12.2
7 cerebrooculofacioskeletal syndrome 1 10.9 ERCC2 ERCC5
8 cockayne syndrome a 10.9 ERCC2 ERCC4 ERCC5
9 acoustic neuroma 10.9 ERCC2 ERCC4 ERCC5
10 diffuse gastric cancer 10.9 ERCC1 ERCC2 XRCC3
11 lung papillary adenocarcinoma 10.8 ERCC1 TP53
12 uv-sensitive syndrome 10.8 ERCC2 ERCC3 ERCC5
13 integumentary system cancer 10.8 POLH TP53 XPA
14 xfe progeroid syndrome 10.8 ERCC1 ERCC4
15 autosomal recessive disease 10.8 ERCC1 ERCC2 ERCC3 XPA
16 cockayne syndrome b 10.7 ERCC2 XPA
17 non-proliferative fibrocystic change of the breast 10.7 TP53 XRCC1
18 trichothiodystrophy 1, photosensitive 10.7 ERCC1 ERCC2 ERCC3 ERCC5 XPA
19 cerebro-oculo-facio-skeletal syndrome 10.7 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
20 differentiated thyroid carcinoma 10.7 TP53 XRCC1 XRCC3
21 xeroderma pigmentosum, complementation group b 10.6 ERCC1 ERCC2 ERCC3 RAD23B XPA
22 fanconi anemia, complementation group a 10.6 ERCC1 ERCC2 ERCC4 HPRT1
23 papilledema 10.6 OGG1 TP53
24 oral leukoplakia 10.5 TP53 XRCC1
25 autosomal genetic disease 10.4 ERCC1 ERCC2 TP53 XPA XRCC1 XRCC3
26 xeroderma pigmentosum, complementation group e 10.4 CUL4A DDB1 DDB2 ERCC5 XPA XPC
27 basal cell carcinoma 10.4 ERCC1 ERCC2 TP53 XPA XRCC1 XRCC3
28 mutagen sensitivity 10.3 ERCC2 RAD23B TP53 XPA XPC XRCC1
29 malignant ependymoma 10.3 ERCC5 TP53
30 xeroderma pigmentosum, complementation group d 10.2 ERCC1 ERCC2 ERCC3 OGG1 RAD23B XPA
31 aging 10.0
32 hepatitis 9.9
33 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
34 angiosarcoma 9.9
35 melanoma 9.9
36 cockayne syndrome 9.7 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to Xeroderma Pigmentosum, Variant Type

Symptoms & Phenotypes for Xeroderma Pigmentosum, Variant Type

Symptoms via clinical synopsis from OMIM:

57
Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion

Misc:
no growth retardation, microcephaly, congenital malformations or other abnormalities

Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Lab:
normal dna repair after ultraviolet radiation
defect in recovery of post-uv dna synthesis
damage


Clinical features from OMIM:

278750

Human phenotypes related to Xeroderma Pigmentosum, Variant Type:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
2 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
3 melanoma 59 32 frequent (33%) Frequent (79-30%) HP:0002861
4 keratitis 59 32 frequent (33%) Frequent (79-30%) HP:0000491
5 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
6 squamous cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0002860
7 hypopigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001010
8 telangiectasia 59 32 frequent (33%) Frequent (79-30%) HP:0001009
9 poikiloderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001029
10 dermal atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0004334
11 basal cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0002671
12 freckles in sun-exposed areas 59 32 hallmark (90%) Very frequent (99-80%) HP:0007603
13 seizures 32 occasional (7.5%) HP:0001250
14 ataxia 32 occasional (7.5%) HP:0001251
15 spasticity 32 occasional (7.5%) HP:0001257
16 failure to thrive 32 hallmark (90%) HP:0001508
17 eeg abnormality 32 hallmark (90%) HP:0002353
18 developmental regression 32 hallmark (90%) HP:0002376
19 cataract 32 frequent (33%) HP:0000518
20 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
21 craniofacial hyperostosis 32 occasional (7.5%) HP:0004493
22 abnormality of the dentition 32 hallmark (90%) HP:0000164
23 microcephaly 32 occasional (7.5%) HP:0000252
24 sensorineural hearing impairment 32 frequent (33%) HP:0000407
25 optic atrophy 32 hallmark (90%) HP:0000648
26 short stature 32 occasional (7.5%) HP:0004322
27 cognitive impairment 32 hallmark (90%) HP:0100543
28 fever 32 hallmark (90%) HP:0001945
29 aminoaciduria 32 occasional (7.5%) HP:0003355
30 fatigue 32 hallmark (90%) HP:0012378
31 arthralgia 32 hallmark (90%) HP:0002829
32 hyperkeratosis 32 frequent (33%) HP:0000962
33 peripheral neuropathy 32 occasional (7.5%) HP:0009830
34 opacification of the corneal stroma 32 occasional (7.5%) HP:0007759
35 strabismus 32 frequent (33%) HP:0000486
36 thin skin 32 hallmark (90%) HP:0000963
37 cryptorchidism 32 frequent (33%) HP:0000028
38 melanocytic nevus 32 occasional (7.5%) HP:0000995
39 alopecia 32 occasional (7.5%) HP:0001596
40 reduced tendon reflexes 32 occasional (7.5%) HP:0001315
41 hypopigmented skin patches 32 frequent (33%) HP:0001053
42 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
43 hypogonadism 32 hallmark (90%) HP:0000135
44 intellectual disability, progressive 32 hallmark (90%) HP:0006887
45 blepharitis 32 occasional (7.5%) HP:0000498
46 decreased testicular size 32 occasional (7.5%) HP:0008734
47 conjunctival telangiectasia 32 hallmark (90%) HP:0000524
48 telangiectasia of the skin 32 hallmark (90%) HP:0100585
49 erythema 32 frequent (33%) HP:0010783
50 conjunctivitis 32 HP:0000509

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.91 ERCC5 OGG1 CETN2 POLH POLI RAD23B
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.83 ERCC5 CUL4A TP53 DDB2 ERCC1 XRCC1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.83 ERCC5 CUL4A TP53 DDB2 ERCC1 XRCC1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 POLI HPRT1 RAD23B OGG1 TP53 ERCC4
2 growth/size/body region MP:0005378 10.35 HPRT1 RAD23B TP53 POLH ERCC5 ERCC1
3 homeostasis/metabolism MP:0005376 10.25 ERCC5 POLI HPRT1 RAD23B OGG1 ERCC1
4 behavior/neurological MP:0005386 10.22 HPRT1 RAD23B OGG1 ERCC1 ERCC2 ERCC3
5 hematopoietic system MP:0005397 10.2 POLH ERCC5 POLI HPRT1 OGG1 ERCC1
6 mortality/aging MP:0010768 10.19 HPRT1 RAD23B OGG1 TP53 ERCC1 ERCC4
7 immune system MP:0005387 10.18 POLH ERCC5 POLI HPRT1 RAD23B OGG1
8 integument MP:0010771 10.11 POLH ERCC5 HPRT1 RAD23B TP53 ERCC1
9 craniofacial MP:0005382 10.04 POLH HPRT1 RAD23B CETN2 ERCC3 TP53
10 neoplasm MP:0002006 9.97 POLI HPRT1 OGG1 TP53 POLH ERCC2
11 liver/biliary system MP:0005370 9.92 ERCC5 HPRT1 OGG1 TP53 ERCC4 ERCC1
12 pigmentation MP:0001186 9.35 POLH HPRT1 ERCC2 TP53 XPA
13 vision/eye MP:0005391 9.28 HPRT1 RAD23B TP53 CETN2 ERCC2 DDB1

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

Drugs for Xeroderma Pigmentosum, Variant Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2 Angiogenesis Inhibitors Phase 2
3 Angiogenesis Modulating Agents Phase 2
4 Anti-Bacterial Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Immunosuppressive Agents Phase 2
7
Isotretinoin Approved Not Applicable 4759-48-2 5538 5282379
8 Dermatologic Agents ,Not Applicable
9 Protective Agents
10 Radiation-Protective Agents
11 Sunscreening Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
2 Lenalidomide in Kaposi Disease Associated With HIV Infection Terminated NCT01282047 Phase 2 Lenalidomide
3 Xeroderma Pigmentosum Patient Experiences Unknown status NCT01123694
4 Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian Population Unknown status NCT02388854
5 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
6 Isotretinoin in Preventing Skin Cancer Completed NCT00025012 Not Applicable isotretinoin
7 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
8 XPAND Trial: Enhancing XP Photoprotection Activities - New Directions Recruiting NCT03445052 Not Applicable
9 Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum Recruiting NCT00046189
10 Actinic Cheilitis Pre-Treated With DNA Repair Enzyme Cream Withdrawn NCT03224715 Not Applicable

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

Cochrane evidence based reviews: xeroderma pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

Genetic tests related to Xeroderma Pigmentosum, Variant Type:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type 29 POLH
2 Xeroderma Pigmentosum 29 ERCC1

Anatomical Context for Xeroderma Pigmentosum, Variant Type

MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

41
Skin, Eye, Brain, Lung, Prostate, Tongue, Liver

Publications for Xeroderma Pigmentosum, Variant Type

Articles related to Xeroderma Pigmentosum, Variant Type:

(show top 50) (show all 768)
# Title Authors Year
1
Case of xeroderma pigmentosum group A with West syndrome. ( 29797530 )
2018
2
17-(Allylamino)-17-Demethoxygeldanamycin Enhances Etoposide-Induced Cytotoxicity via the Downregulation of Xeroderma Pigmentosum Complementation Group C Expression in Human Lung Squamous Cell Carcinoma Cells. ( 29953987 )
2018
3
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. ( 29749609 )
2018
4
New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome. ( 28472728 )
2017
5
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. ( 28255305 )
2017
6
Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates. ( 28860187 )
2017
7
Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3. ( 28233440 )
2017
8
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. ( 28431612 )
2017
9
Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant. ( 28669926 )
2017
10
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. ( 27607234 )
2017
11
An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities. ( 27603812 )
2017
12
Xeroderma pigmentosum-Cockayne syndrome complex. ( 28376890 )
2017
13
Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene. ( 28688171 )
2017
14
Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and tight spatiotemporal regulation. ( 26521083 )
2016
15
Role of DNA Repair Factor Xeroderma Pigmentosum Protein Group C in Response to Replication Stress As Revealed by DNA Fragile Site Affinity Chromatography and Quantitative Proteomics. ( 27794614 )
2016
16
[Advance in research on causative genes of xeroderma pigmentosum and related diseases]. ( 27577229 )
2016
17
Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG. ( 27413738 )
2016
18
Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotypes to Colorectal Cancer Risk in Taiwan. ( 27069143 )
2016
19
Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome. ( 27396511 )
2016
20
Xeroderma pigmentosum, complementation group D expression in H1299 lung cancer cells following benzo[a]pyrene exposure as well as in head and neck cancer patients. ( 26731659 )
2016
21
Phase 2 Study of Trabectedin in Patients With Hormone Receptor-Positive, HER-2-Negative, Advanced Breast Carcinoma According to Expression of Xeroderma Pigmentosum G Gene. ( 27266804 )
2016
22
The Association of the Xeroderma Pigmentosum Group D DNA Helicase (XPD) with Transcription Factor IIH Is Regulated by the Cytosolic Iron-Sulfur Cluster Assembly Pathway. ( 25897079 )
2015
23
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription. ( 25620205 )
2015
24
Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion. ( 26278556 )
2015
25
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients. ( 25651777 )
2015
26
Bilateral enucleation avoided by excision with mitomycin C for bilateral infiltrating conjunctival squamous cell carcinoma in a girl with xeroderma pigmentosum. ( 25976132 )
2015
27
Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein. ( 25628365 )
2015
28
Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications. ( 25795128 )
2015
29
Importance of genotype-phenotype correlation in xeroderma pigmentosum. ( 25827741 )
2015
30
A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome. ( 26460500 )
2015
31
Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotype to Gastric Cancer Risk in Taiwan. ( 26254397 )
2015
32
Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma in an infant. ( 26458699 )
2015
33
Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum. ( 26227012 )
2015
34
Multiple facial basal cell carcinomas in xeroderma pigmentosum treated with topical imiquimod 5% cream. ( 25754701 )
2015
35
A meta-analysis of xeroderma pigmentosum gene D Ls751Gln polymorphism and susceptibility to hepatocellular carcinoma. ( 26722489 )
2015
36
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. ( 25566891 )
2015
37
Xeroderma pigmentosum complementation group C protein (XPC) expression in basal cell carcinoma. ( 25600527 )
2015
38
Management of keratoacanthoma in patients with xeroderma pigmentosum: a challenge for clinicians. ( 26388200 )
2015
39
Xeroderma Pigmentosum Group A Suppresses Mutagenesis Caused by Clustered Oxidative DNA Adducts in the Human Genome. ( 26559182 )
2015
40
Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population. ( 25913378 )
2015
41
Xeroderma pigmentosum and its dental implications. ( 25713498 )
2015
42
Generation of Xeroderma Pigmentosum-A Patient-Derived Induced Pluripotent Stem Cell Line for Use As Future Disease Model. ( 26090552 )
2015
43
SUMOylation of xeroderma pigmentosum group C protein regulates DNA damage recognition during nucleotide excision repair. ( 26042670 )
2015
44
Common variants of xeroderma pigmentosum genes and prostate cancer risk. ( 24933002 )
2014
45
Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health. ( 25220021 )
2014
46
Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk. ( 24938470 )
2014
47
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. ( 24135642 )
2014
48
The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes. ( 25500814 )
2014
49
Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases. ( 25408650 )
2014
50
Association of xeroderma pigmentosum complementation group G Asp1104His polymorphism with breast cancer risk: A cumulative meta-analysis. ( 25279219 )
2014

Variations for Xeroderma Pigmentosum, Variant Type

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

75
# Symbol AA change Variation ID SNP ID
1 POLH p.Arg111His VAR_021227 rs758423288
2 POLH p.Thr122Pro VAR_021228
3 POLH p.Gly263Val VAR_021230
4 POLH p.Arg361Ser VAR_021232
5 POLH p.Lys535Glu VAR_021234 rs56307355
6 POLH p.Lys589Thr VAR_021236 rs121908565
7 POLH p.Arg93Pro VAR_070836 rs756931657
8 POLH p.Val266Asp VAR_070837
9 POLH p.Gly295Arg VAR_070838
10 POLH p.Thr692Ala VAR_070839 rs199562456

ClinVar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

6
(show top 50) (show all 929)
# Gene Variation Type Significance SNP ID Assembly Location
1 XPC NM_004628.4(XPC): c.566_567delAT (p.Tyr189Serfs) deletion Pathogenic rs752088918 GRCh37 Chromosome 3, 14208723: 14208724
2 XPC NM_004628.4(XPC): c.566_567delAT (p.Tyr189Serfs) deletion Pathogenic rs752088918 GRCh38 Chromosome 3, 14167223: 14167224
3 POLH POLH, 13-BP DEL, NT343 deletion Pathogenic
4 POLH POLH, 4-BP DEL, NT289 deletion Pathogenic
5 POLH POLH, 2-BP DEL, NT770 deletion Pathogenic
6 POLH NM_006502.2(POLH): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs121908562 GRCh37 Chromosome 6, 43572383: 43572383
7 POLH NM_006502.2(POLH): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs121908562 GRCh38 Chromosome 6, 43604646: 43604646
8 POLH POLH, DEL AND TRP297TER deletion Pathogenic
9 POLH NM_006502.2(POLH): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic rs121908563 GRCh37 Chromosome 6, 43555112: 43555112
10 POLH NM_006502.2(POLH): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic rs121908563 GRCh38 Chromosome 6, 43587375: 43587375
11 POLH NM_006502.2(POLH): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs121908564 GRCh37 Chromosome 6, 43578333: 43578333
12 POLH NM_006502.2(POLH): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs121908564 GRCh38 Chromosome 6, 43610596: 43610596
13 POLH POLH, 104-BP DEL, NT661 deletion Pathogenic
14 POLH POLH, 1-BP DEL, 207G deletion Pathogenic
15 POLH POLH, 3-BP DEL, NT222 deletion Pathogenic
16 POLH NM_006502.2(POLH): c.1603A> G (p.Lys535Glu) single nucleotide variant Likely pathogenic rs56307355 GRCh37 Chromosome 6, 43581755: 43581755
17 POLH NM_006502.2(POLH): c.1603A> G (p.Lys535Glu) single nucleotide variant Likely pathogenic rs56307355 GRCh38 Chromosome 6, 43614018: 43614018
18 POLH NM_006502.2(POLH): c.1766A> C (p.Lys589Thr) single nucleotide variant Pathogenic rs121908565 GRCh37 Chromosome 6, 43581918: 43581918
19 POLH NM_006502.2(POLH): c.1766A> C (p.Lys589Thr) single nucleotide variant Pathogenic rs121908565 GRCh38 Chromosome 6, 43614181: 43614181
20 ERCC5 NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter) single nucleotide variant Pathogenic rs121434570 GRCh37 Chromosome 13, 103524747: 103524747
21 ERCC5 NM_000123.3(ERCC5): c.2878G> T (p.Glu960Ter) single nucleotide variant Pathogenic rs121434570 GRCh38 Chromosome 13, 102872397: 102872397
22 TMEM43; XPC NM_004628.4(XPC): c.2815C> A (p.Gln939Lys) single nucleotide variant drug response rs2228001 GRCh38 Chromosome 3, 14145949: 14145949
23 TMEM43; XPC NM_004628.4(XPC): c.2815C> A (p.Gln939Lys) single nucleotide variant drug response rs2228001 GRCh37 Chromosome 3, 14187449: 14187449
24 XPC NM_004628.4(XPC): c.2251-1G> C single nucleotide variant Pathogenic rs754673606 GRCh37 Chromosome 3, 14190232: 14190232
25 XPC NM_004628.4(XPC): c.2251-1G> C single nucleotide variant Pathogenic rs754673606 GRCh38 Chromosome 3, 14148732: 14148732
26 XPC NM_004628.4(XPC): c.2251-6A> C single nucleotide variant Benign rs2279017 GRCh37 Chromosome 3, 14190237: 14190237
27 XPC NM_004628.4(XPC): c.2251-6A> C single nucleotide variant Benign rs2279017 GRCh38 Chromosome 3, 14148737: 14148737
28 XPA NM_000380.3(XPA): c.-4A> G single nucleotide variant Benign rs1800975 GRCh38 Chromosome 9, 97697296: 97697296
29 XPA NM_000380.3(XPA): c.-4A> G single nucleotide variant Benign rs1800975 GRCh37 Chromosome 9, 100459578: 100459578
30 ERCC4 NM_005236.2(ERCC4): c.*2577C> A single nucleotide variant Benign/Likely benign rs56012340 GRCh38 Chromosome 16, 13950924: 13950924
31 ERCC4 NM_005236.2(ERCC4): c.*2577C> A single nucleotide variant Benign/Likely benign rs56012340 GRCh37 Chromosome 16, 14044781: 14044781
32 ERCC4 NM_005236.2(ERCC4): c.*2577delC deletion Benign/Likely benign rs61422086 GRCh38 Chromosome 16, 13950924: 13950924
33 ERCC4 NM_005236.2(ERCC4): c.*2577delC deletion Benign/Likely benign rs61422086 GRCh37 Chromosome 16, 14044781: 14044781
34 ERCC4 NM_005236.2(ERCC4): c.974-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201181735 GRCh37 Chromosome 16, 14026008: 14026008
35 ERCC4 NM_005236.2(ERCC4): c.974-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201181735 GRCh38 Chromosome 16, 13932151: 13932151
36 POLH NM_006502.2(POLH): c.764+1G> A single nucleotide variant Pathogenic rs772570523 GRCh38 Chromosome 6, 43601092: 43601092
37 POLH NM_006502.2(POLH): c.764+1G> A single nucleotide variant Pathogenic rs772570523 GRCh37 Chromosome 6, 43568829: 43568829
38 POLH NM_006502.2(POLH): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic rs759607901 GRCh38 Chromosome 6, 43604637: 43604637
39 POLH NM_006502.2(POLH): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic rs759607901 GRCh37 Chromosome 6, 43572374: 43572374
40 POLH NM_006502.2(POLH): c.490G> T (p.Glu164Ter) single nucleotide variant Likely pathogenic rs767433001 GRCh37 Chromosome 6, 43555226: 43555226
41 POLH NM_006502.2(POLH): c.490G> T (p.Glu164Ter) single nucleotide variant Likely pathogenic rs767433001 GRCh38 Chromosome 6, 43587489: 43587489
42 ERCC1 NM_202001.2(ERCC1): c.354T> C (p.Asn118=) single nucleotide variant drug response rs11615 GRCh38 Chromosome 19, 45420395: 45420395
43 ERCC1 NM_202001.2(ERCC1): c.354T> C (p.Asn118=) single nucleotide variant drug response rs11615 GRCh37 Chromosome 19, 45923653: 45923653
44 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh37 Chromosome 16, 14015932: 14015932
45 ERCC4 NM_005236.2(ERCC4): c.252C> T (p.Leu84=) single nucleotide variant Benign/Likely benign rs3136056 GRCh38 Chromosome 16, 13922075: 13922075
46 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh37 Chromosome 16, 14041916: 14041916
47 ERCC4 NM_005236.2(ERCC4): c.2463A> G (p.Pro821=) single nucleotide variant Conflicting interpretations of pathogenicity rs2020953 GRCh38 Chromosome 16, 13948059: 13948059
48 XPC NM_004628.4(XPC): c.-27G> C single nucleotide variant Benign rs2607775 GRCh38 Chromosome 3, 14178595: 14178595
49 XPC NM_004628.4(XPC): c.-27G> C single nucleotide variant Benign rs2607775 GRCh37 Chromosome 3, 14220095: 14220095
50 POLH NM_006502.2(POLH): c.626G> T (p.Gly209Val) single nucleotide variant Benign rs2307456 GRCh37 Chromosome 6, 43565568: 43565568

Expression for Xeroderma Pigmentosum, Variant Type

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for Xeroderma Pigmentosum, Variant Type

Pathways related to Xeroderma Pigmentosum, Variant Type according to KEGG:

37
# Name Kegg Source Accession
1 Nucleotide excision repair hsa03420

Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
2
Show member pathways
12.84 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
3
Show member pathways
12.74 DDB2 ERCC2 ERCC3 RPA2 TP53
4
Show member pathways
12.65 CUL4A DDB1 OGG1 RPA2 XRCC1
5
Show member pathways
12.58 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 OGG1
6 12.24 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
7
Show member pathways
12.19 ERCC1 ERCC4 POLH RPA2 XRCC3
8
Show member pathways
12.16 CUL4A DDB1 POLH POLI RPA2
9 11.91 ERCC2 ERCC3 TP53 XPA XPC
10 11.78 ERCC1 ERCC4 POLH POLI RPA2
11 11.62 ERCC1 POLH TP53 XPA
12
Show member pathways
11.5 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
13 11.31 ERCC1 ERCC2 ERCC3 ERCC4 POLH XPA

GO Terms for Xeroderma Pigmentosum, Variant Type

Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.65 CUL4A DDB1 DDB2
2 DNA replication factor A complex GO:0005662 9.63 ERCC5 RPA2 XPA
3 nuclear chromosome, telomeric region GO:0000784 9.63 DDB1 ERCC1 ERCC4 RPA2 XRCC1 XRCC3
4 holo TFIIH complex GO:0005675 9.61 ERCC2 ERCC3 ERCC5
5 nucleoplasm GO:0005654 9.6 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
6 ERCC4-ERCC1 complex GO:0070522 9.58 ERCC1 ERCC4 XRCC1
7 cullin-RING ubiquitin ligase complex GO:0031461 9.55 CUL4A DDB1
8 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.54 CUL4A DDB1
9 core TFIIH complex GO:0000439 9.52 ERCC2 ERCC3
10 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.51 DDB1 DDB2
11 nucleotide-excision repair factor 1 complex GO:0000110 9.5 ERCC1 ERCC4 XPA
12 nucleotide-excision repair complex GO:0000109 9.49 ERCC1 ERCC4
13 XPC complex GO:0071942 9.43 CETN2 RAD23B XPC
14 transcription factor TFIID complex GO:0005669 9.35 ERCC1 ERCC2 ERCC3 ERCC4 TP53
15 nucleus GO:0005634 10.32 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 base-excision repair GO:0006284 9.97 OGG1 RPA2 TP53 XPA XRCC1
2 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.96 CUL4A DDB1 RAD23B TP53
3 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.96 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
4 UV-damage excision repair GO:0070914 9.93 DDB1 DDB2 ERCC1 XPA XPC
5 double-strand break repair via homologous recombination GO:0000724 9.91 ERCC4 RPA2 XRCC1 XRCC3
6 interstrand cross-link repair GO:0036297 9.91 ERCC1 ERCC4 RPA2 XRCC3
7 embryonic organ development GO:0048568 9.89 ERCC1 ERCC2 ERCC3 RAD23B
8 DNA recombination GO:0006310 9.86 ERCC1 RPA2 XRCC3
9 regulation of mitotic cell cycle phase transition GO:1901990 9.86 DDB1 ERCC2 ERCC3 XPC
10 multicellular organism growth GO:0035264 9.85 ERCC1 ERCC2 XPA
11 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.85 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
12 double-strand break repair via nonhomologous end joining GO:0006303 9.82 ERCC1 ERCC4 XRCC1
13 DNA damage response, detection of DNA damage GO:0042769 9.8 CUL4A DDB1 RPA2
14 translesion synthesis GO:0019985 9.8 POLH POLI RPA2
15 telomeric DNA-containing double minutes formation GO:0061819 9.76 ERCC1 ERCC4 XRCC1
16 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.75 ERCC1 ERCC4 XRCC1
17 error-prone translesion synthesis GO:0042276 9.69 POLI RPA2
18 error-free translesion synthesis GO:0070987 9.69 POLH RPA2
19 mitotic recombination GO:0006312 9.68 ERCC1 XRCC3
20 histone H2A monoubiquitination GO:0035518 9.68 DDB1 DDB2
21 t-circle formation GO:0090656 9.68 ERCC1 XRCC3
22 response to auditory stimulus GO:0010996 9.67 XPA XPC
23 mitotic G1 DNA damage checkpoint GO:0031571 9.67 RPA2 TP53
24 negative regulation of telomerase activity GO:0051974 9.67 ERCC4 TP53
25 response to UV-C GO:0010225 9.66 ERCC5 POLH
26 regulation of DNA damage checkpoint GO:2000001 9.65 CUL4A RPA2
27 hair cell differentiation GO:0035315 9.64 ERCC2 ERCC3
28 pyrimidine dimer repair GO:0006290 9.64 DDB2 POLH
29 negative regulation of telomere maintenance GO:0032205 9.63 ERCC1 ERCC4
30 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.62 ERCC4 XPA
31 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.61 CETN2 CUL4A DDB1 DDB2 ERCC2 ERCC3
32 nucleotide-excision repair, DNA damage recognition GO:0000715 9.17 CETN2 CUL4A DDB1 DDB2 RAD23B XPA
33 cellular response to DNA damage stimulus GO:0006974 10.49 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
34 DNA repair GO:0006281 10.45 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
35 nucleotide-excision repair GO:0006289 10.32 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
36 nucleotide-excision repair, DNA incision GO:0033683 10.2 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
37 nucleotide-excision repair, preincision complex assembly GO:0006294 10.17 CETN2 CUL4A DDB1 DDB2 ERCC2 ERCC3
38 global genome nucleotide-excision repair GO:0070911 10.14 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
39 transcription-coupled nucleotide-excision repair GO:0006283 10.07 CUL4A DDB1 ERCC1 ERCC2 ERCC3 ERCC4
40 viral process GO:0016032 10.05 CUL4A DDB1 ERCC2 ERCC3 TP53
41 response to UV GO:0009411 10.02 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 XPA
42 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 10.02 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
43 response to oxidative stress GO:0006979 10 ERCC1 ERCC2 ERCC3 OGG1 XPA
44 UV protection GO:0009650 10 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.8 ERCC1 ERCC2 ERCC3 ERCC4
2 endonuclease activity GO:0004519 9.73 ERCC1 ERCC4 ERCC5 OGG1
3 protein N-terminus binding GO:0047485 9.73 ERCC2 ERCC3 ERCC4 ERCC5 RPA2 TP53
4 nuclease activity GO:0004518 9.72 ERCC1 ERCC4 ERCC5
5 DNA-dependent ATPase activity GO:0008094 9.65 ERCC2 ERCC3 XRCC3
6 endodeoxyribonuclease activity GO:0004520 9.63 ERCC4 ERCC5 XRCC3
7 TFIID-class transcription factor binding GO:0001094 9.58 ERCC1 ERCC4 TP53
8 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.54 ERCC2 ERCC3
9 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.52 ERCC1 ERCC4
10 bubble DNA binding GO:0000405 9.51 ERCC5 XPC
11 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.5 ERCC1 ERCC4 XRCC1
12 single-stranded DNA binding GO:0003697 9.5 ERCC1 ERCC4 ERCC5 RAD23B RPA2 XPC
13 damaged DNA binding GO:0003684 9.47 DDB1 DDB2 ERCC1 ERCC3 ERCC4 OGG1
14 protein binding GO:0005515 10.37 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
15 DNA binding GO:0003677 10 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

Sources for Xeroderma Pigmentosum, Variant Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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