XPV
MCID: XRD010
MIFTS: 73

Xeroderma Pigmentosum, Variant Type (XPV)

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

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

MalaCards integrated aliases for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 56 74 52 13 39
Xeroderma Pigmentosum 12 74 24 52 25 58 36 29 54 6 43 15 39 32
Xeroderma Pigmentosum Variant Type 12 73 29 6 15
Xpv 56 12 52 58 73
Xeroderma Pigmentosum with Normal Dna Repair Rates 56 12 52 73
Photosensitivity with Defective Dna Synthesis 56 12 52
Xp 52 25
De Sanctis-Cacchione Syndrome 71
Xeroderma Pigmentosum Variant 58
Desanctis-Cacchione Syndrome 25
Xeroderma Pigmentosa 52

Characteristics:

Orphanet epidemiological data:

58
xeroderma pigmentosum
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Japan); Age of onset: All ages; Age of death: adult;
xeroderma pigmentosum variant
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
xeroderma pigmentosum, variant type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Xeroderma Pigmentosum, Variant Type

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. The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. Other affected children do not get sunburned with minimal sun exposure, but instead tan normally. By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name, xeroderma pigmentosum. People with xeroderma pigmentosum have a greatly increased risk of developing skin cancer. Without sun protection, about half of children with this condition develop their first skin cancer by age 10. Most people with xeroderma pigmentosum develop multiple skin cancers during their lifetime. These cancers occur most often on the face, lips, and eyelids. Cancer can also develop on the scalp, in the eyes, and on the tip of the tongue. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of other types of cancer, including brain tumors. Additionally, affected individuals who smoke cigarettes have a significantly increased risk of lung cancer. The eyes of people with xeroderma pigmentosum may be painfully sensitive to UV rays from the sun. If the eyes are not protected from the sun, they may become bloodshot and irritated, and the clear front covering of the eyes (the cornea) may become cloudy. In some people, the eyelashes fall out and the eyelids may be thin and turn abnormally inward or outward. In addition to an increased risk of eye cancer, xeroderma pigmentosum is associated with noncancerous growths on the eye. Many of these eye abnormalities can impair vision. About 30 percent of people with xeroderma pigmentosum develop progressive neurological abnormalities in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual function, difficulty swallowing and talking, and seizures. When these neurological problems occur, they tend to worsen with time. Researchers have identified at least eight inherited forms of xeroderma pigmentosum: complementation group A (XP-A) through complementation group G (XP-G) plus a variant type (XP-V). The types are distinguished by their genetic cause. All of the types increase skin cancer risk, although some are more likely than others to be associated with neurological abnormalities.

MalaCards based summary : Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, complementation group g and xeroderma pigmentosum, complementation group d. 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 Chks in Checkpoint Regulation. The drugs Propranolol and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and eye, and related phenotypes are abnormality of the dentition and optic atrophy

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

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Xeroderma pigmentosum (XP) is a rare autosomal-inherited, skin and neurodegenerative disease in which exposure to sunlight can result in a high incidence of skin and mucous membrane cancer. XP is classified into eight genetic complementation groups by the present. In this inside, 7 groups from the XP-A group to the G group show the abnormality in nucleotide excision repair (NER). The symptoms of XP begin in early life. Severe sunburn and blistering occurs in a half of patients, and all show early extensive freckling. Cancer incidence for individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5).

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA... more...

GeneReviews: NBK1397

Related Diseases for Xeroderma Pigmentosum, Variant Type

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

(show top 50) (show all 506)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group g 36.4 XRCC1 XPC XPA RAD23B H2AC18 ERCC8
2 xeroderma pigmentosum, complementation group d 36.4 XRCC1 XPC XPA RAD23B H2AC18 ERCC8
3 xeroderma pigmentosum, complementation group b 36.3 XPC XPA RAD23B H2AC18 ERCC8 ERCC6
4 xeroderma pigmentosum, complementation group c 36.3 XRCC1 XPC XPA RAD23B H2AC18 ERCC6
5 xeroderma pigmentosum, complementation group f 36.3 XPA RAD23B ERCC6 ERCC5 ERCC4 ERCC3
6 xeroderma pigmentosum group e 36.2 XPC XPA RAD23B H2AC18 ERCC8 ERCC6
7 xeroderma pigmentosum, complementation group e 35.9 XPC XPA ERCC5 DDB2 DDB1 CUL4A
8 xeroderma pigmentosum-cockayne syndrome complex 35.4 ERCC5 ERCC4 ERCC3 ERCC2
9 cockayne syndrome a 34.5 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
10 trichothiodystrophy 34.2 XPA ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
11 cockayne syndrome b 34.0 ERCC8 ERCC6 ERCC1
12 cerebrooculofacioskeletal syndrome 1 33.9 ERCC6 ERCC5 ERCC2 ERCC1
13 xeroderma pigmentosum, complementation group a 33.4 XRCC1 XPA TP53 RPA1 RAD23B H2AC18
14 cockayne syndrome 33.3 XPC XPA TP53 ERCC8 ERCC6 ERCC5
15 trichothiodystrophy 1, photosensitive 32.3 XRCC1 XPA RAD23B H2AC18 ERCC8 ERCC6
16 fanconi anemia, complementation group a 32.3 XRCC1 XPA TP53 POLH H2AC18 ERCC6
17 uv-sensitive syndrome 32.1 XPA RAD23B H2AC18 ERCC8 ERCC6 ERCC5
18 microcephaly 32.0 TP53 H2AC18 ERCC6 ERCC5 ERCC4 ERCC2
19 skin carcinoma 31.8 XPC XPA TP53 POLH H2AC18 ERCC6
20 hutchinson-gilford progeria syndrome 31.8 XPA TP53 H2AC18 ERCC8 ERCC6 ERCC4
21 autosomal recessive disease 31.5 XPA H2AC18 ERCC6 ERCC3 ERCC2 ERCC1
22 basal cell carcinoma 31.4 XRCC1 XPA TP53 ERCC2 ERCC1 DDB2
23 cerebro-oculo-facio-skeletal syndrome 31.3 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
24 ocular cancer 31.3 XPA TP53 H2AC18 ERCC2
25 hair disease 31.2 H2AC18 ERCC6 ERCC3
26 xfe progeroid syndrome 31.1 XPA ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
27 li-fraumeni syndrome 31.0 XPC TP53 DDB2
28 xeroderma pigmentosum, autosomal dominant, mild 12.6
29 chromosome xp deletion 12.5
30 cerebrooculofacioskeletal syndrome 3 12.0
31 de sanctis-cacchione syndrome 12.0
32 melanoma 11.8
33 cerebrooculofacioskeletal syndrome 2 11.8
34 cerebrooculofacioskeletal syndrome 4 11.8
35 partial duplication of the short arm of chromosome x 11.5
36 basal cell carcinoma 1 11.4
37 partial deletion of the short arm of chromosome 10 11.3
38 mutagen sensitivity 10.9 XRCC1 XPC XPA TP53 RAD23B ERCC2
39 robinow syndrome, autosomal recessive 1 10.9 XPA H2AC18 ERCC8 ERCC6 DDB2
40 ataxia and polyneuropathy, adult-onset 10.8
41 female breast cancer 10.8 XRCC1 TP53 ERCC5 ERCC4 ERCC2
42 autosomal genetic disease 10.8 XPA TP53 H2AC18 ERCC6 ERCC1
43 lynch syndrome 10.8 XRCC1 TP53 RAD23B H2AC18 ERCC6
44 breast disease 10.8 XRCC1 TP53 H2AC18 ERCC4 ERCC2
45 allergic hypersensitivity disease 10.8
46 acoustic neuroma 10.8 ERCC5 ERCC4 ERCC2
47 melanoma, cutaneous malignant 10 10.8
48 squamous cell carcinoma 10.8
49 cockayne syndrome type iii 10.8 ERCC8 ERCC6
50 telangiectasis 10.8

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

Human phenotypes related to Xeroderma Pigmentosum, Variant Type:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
2 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
3 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
4 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
5 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
6 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
7 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
8 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
9 dry skin 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000958
10 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000992
11 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
12 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
13 conjunctival telangiectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000524
14 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
15 freckling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001480
16 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
17 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
18 poikiloderma 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001029
19 hypopigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001010
20 freckles in sun-exposed areas 58 31 hallmark (90%) Very frequent (99-80%) HP:0007603
21 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
22 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
23 photophobia 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0000613
24 hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000962
25 hypermelanotic macule 58 31 frequent (33%) Frequent (79-30%) HP:0001034
26 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
27 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
28 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
29 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
30 melanoma 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002861
31 keratitis 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000491
32 papilloma 58 31 frequent (33%) Frequent (79-30%) HP:0012740
33 basal cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0002671
34 squamous cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0002860
35 telangiectasia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001009
36 dermal atrophy 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004334
37 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
38 craniofacial hyperostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004493
39 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
40 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
41 aminoaciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003355
42 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
43 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
44 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
45 opacification of the corneal stroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0007759
46 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
47 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
48 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
49 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
50 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071

Symptoms via clinical synopsis from OMIM:

56
Eyes:
photophobia
conjunctivitis
keratitis
ectropion
entropion

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

Skin:
poikiloderma
telangiectasia
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

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.28 TP53
2 Decreased viability GR00249-S 10.28 ERCC4 POLH RAD23B RPA1 TP53 XPC
3 Decreased viability GR00301-A 10.28 RPA1
4 Decreased viability GR00381-A-1 10.28 DDB1 ERCC1
5 Decreased viability GR00386-A-1 10.28 ERCC3 ERCC5 ERCC6 POLH POLI RAD23B
6 Decreased viability GR00402-S-2 10.28 DDB1 RPA1 TP53
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.08 CUL4A DDB2 ERCC4 ERCC5 ERCC6 RPA1
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.08 CUL4A DDB2 ERCC1 ERCC4 ERCC5 ERCC6
9 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.08 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
10 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.8 DDB2 ERCC1 ERCC8 TP53
11 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.8 CUL4A DDB2 ERCC1 ERCC5 TP53
12 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.8 DDB2 ERCC1 ERCC5 TP53 XRCC1
13 Increased S length, increased G2 length GR00237-A 8.85 DDB1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
2 growth/size/body region MP:0005378 10.39 CETN2 CUL4A DDB2 ERCC1 ERCC2 ERCC3
3 homeostasis/metabolism MP:0005376 10.28 CUL4A ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
4 hematopoietic system MP:0005397 10.17 CUL4A ERCC1 ERCC2 ERCC5 ERCC6 ERCC8
5 immune system MP:0005387 10.15 CUL4A ERCC1 ERCC2 ERCC5 ERCC6 ERCC8
6 integument MP:0010771 10.1 DDB2 ERCC1 ERCC2 ERCC3 ERCC5 ERCC6
7 mortality/aging MP:0010768 10.09 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
8 liver/biliary system MP:0005370 9.8 CUL4A ERCC1 ERCC4 ERCC5 ERCC6 TP53
9 neoplasm MP:0002006 9.8 CUL4A DDB2 ERCC1 ERCC2 ERCC3 ERCC6
10 vision/eye MP:0005391 9.32 CETN2 DDB1 ERCC1 ERCC2 ERCC6 ERCC8

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2 Antihypertensive Agents Phase 2, Phase 3
3 Adrenergic beta-Antagonists Phase 2, Phase 3
4 Adrenergic Antagonists Phase 2, Phase 3
5 Adrenergic Agents Phase 2, Phase 3
6 Vasodilator Agents Phase 2, Phase 3
7 Anti-Arrhythmia Agents Phase 2, Phase 3
8 Neurotransmitter Agents Phase 2, Phase 3
9
Fluorouracil Approved Phase 2 51-21-8 3385
10
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 43805 6857599 5310940 9887054
11
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
12
Lenalidomide Approved Phase 2 191732-72-6 216326
13 Veratrum Alkaloids Phase 2
14 Antineoplastic Agents, Immunological Phase 2
15 Angiogenesis Inhibitors Phase 2
16
Isotretinoin Approved 4759-48-2 5282379 5538
17 Sunscreening Agents

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A RANDOMIZED, DOUBLE BLIND, MULTI-CENTER CLINICAL STUDY TO TEST THE SAFETY AND EFFICACY OF T4N5 LIPOSOME LOTION ON PATIENTS WITH XERODERMA PIGMENTOSUM IN THE PROTECTION AGAINST ACTINIC KERATOSES Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
2 Melablock: A Multicentre Randomized, Double---blinded and Placebo---controlled Clinical Trial on the Efficacy and Safety of Once Daily Propranolol 80 mg Retard for the Prevention of Cutaneous Malignant Melanoma Recurrence Not yet recruiting NCT02962947 Phase 2, Phase 3 Propranolol;Placebo
3 Oxaliplatin (NSC-266046) Plus Protracted Infusion 5-Fluorouracil And Radiation For Potentially Curable Esophageal Cancer: A Phase II Trial With Molecular Correlates Completed NCT00086996 Phase 2 fluorouracil;oxaliplatin
4 A Multicenter, Randomized, Double Blind, Vehicle-controlled, Phase 2 Efficacy and Safety Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Patients With Non-Gorlin High Frequency BCC Recruiting NCT04155190 Phase 2 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle
5 Efficacy of Adding Trastuzumab to Standard Chemotherapy in Patients With Advanced HER2-negative Gastric Cancer and HER2 Positive Expression in Circulating Tumor Cells Not yet recruiting NCT04168931 Phase 2 Trastuzumab
6 Multicenter, Open Label, Phase II Trial to Evaluate the Efficacy and Safety of Treatment With Lenalidomide in Kaposi Disease Associated With HIV Infection (ANRS 154/LENAKAP) Terminated NCT01282047 Phase 2 Lenalidomide
7 Randomized Phase II Trial Of Adjuvant Chemotherapy For Urothelial Carcinoma Comparing GC To Dose-Dense MVAC Withdrawn NCT01639521 Phase 2 cisplatin;gemcitabine hydrochloride;methotrexate;vinblastine;doxorubicin hydrochloride
8 Phase 1/2 Clinical Trial for the Evaluation of Ingenol Mebutate for Actinic Cheilitis Withdrawn NCT03452566 Phase 1, Phase 2 Ingenol mebutate gel
9 Xeroderma Pigmentosum: A Survey of Patient Experiences Unknown status NCT01123694
10 Application of Genetic Polymorphisms of DNA Repair in The Prediction of Prostate Cancer Susceptibility and Its Clinical Outcome Unknown status NCT00167024
11 DNA Repair Genes and Outcomes in Patients With Stage III NSCLC Unknown status NCT00797238
12 A Prospective Pilot Study to Evaluate the Effect of Systemic Adjuvant Therapy on the Cognitive and Brain Function of Breast Cancer Patients Unknown status NCT02078531
13 Use Of Isotretinion For Prevention Of Skin Cancer In Patients With Xeroderma Pigmentosum Or Nevoid Basal Cell Carcinoma Syndrome Completed NCT00025012 isotretinoin
14 Regular Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients, Particularly in Xeroderma Pigmentosum and Basal Cell Nevus Syndrome Completed NCT00555633
15 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
16 Cancer Risk in Xeroderma Pigmentosum Heterozygotes Recruiting NCT00046189
17 The XPAND Evaluation of a Personalised Adherence Intervention to Improve Photoprotection Behaviour in Adults With Xeroderma Pigmentosum (XP): Randomised Controlled Trial. Recruiting NCT03445052
18 Epidemiological Description of the Kaposi's Disease in France's Southeast Enrolling by invitation NCT03662828

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:

40
Skin, Lung, Eye, Brain, Breast, Tongue, Prostate

Publications for Xeroderma Pigmentosum, Variant Type

Articles related to Xeroderma Pigmentosum, Variant Type:

(show top 50) (show all 4267)
# Title Authors PMID Year
1
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. 61 56 6 54
10385124 1999
2
Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 61 56 6
11121129 2000
3
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. 24 6 61 54
10766188 2000
4
hRAD30 mutations in the variant form of xeroderma pigmentosum. 61 6 56
10398605 1999
5
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis. 24 6 61
19478817 2009
6
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. 61 24 6
14662655 2004
7
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product. 61 6 24
12812979 2003
8
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. 61 24 56
4811796 1974
9
Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. 54 61 6
11121128 2000
10
A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts. 6 54 61
10469312 1999
11
Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites. 61 54 6
8825598 1995
12
Characterization of molecular defects in xeroderma pigmentosum group C. 6 61 54
8298653 1993
13
High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia. 61 6 54
8105686 1993
14
Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene. 54 6 61
1339397 1992
15
Three nonsense mutations responsible for group A xeroderma pigmentosum. 61 54 6
1372102 1992
16
Characterization of a splicing mutation in group A xeroderma pigmentosum. 6 54 61
1702221 1990
17
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. 61 54 24
20054342 2010
18
ATR/Chk1 pathway is essential for resumption of DNA synthesis and cell survival in UV-irradiated XP variant cells. 56 61
20123862 2010
19
Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein. 54 24 61
19686765 2010
20
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. 54 61 24
18955168 2009
21
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. 61 24 54
18470933 2008
22
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 24 54 61
16947863 2006
23
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. 61 24 54
16905156 2006
24
A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. 6 61
16098033 2005
25
Xeroderma Pigmentosum 6 61
20301571 2003
26
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 61 54 24
11709541 2001
27
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. 61 6
11511294 2001
28
The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. 61 54 24
11156600 2001
29
Complementation of defective translesion synthesis and UV light sensitivity in xeroderma pigmentosum variant cells by human and mouse DNA polymerase eta. 61 6
10871396 2000
30
Cullin 4A associates with the UV-damaged DNA-binding protein DDB. 6 61
10585395 1999
31
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. 6 61
9804340 1998
32
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 24 54 61
9238033 1997
33
Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. 24 54 61
8798680 1996
34
A simple method for diagnosing xeroderma pigmentosum variant. 61 56
8751969 1996
35
A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients. 61 6
8541864 1995
36
A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique. Usefulness of PCR in the detection of point mutation in a patient with a hereditary disease. 61 6
1352672 1992
37
Xeroderma pigmentosum variant cells are less likely than normal cells to incorporate dAMP opposite photoproducts during replication of UV-irradiated plasmids. 56 61
1652764 1991
38
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. 61 6
2234061 1990
39
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. 61 56
7264357 1981
40
Similar defects in DNA repair and replication in the pigmented xerodermoid and the xeroderma pigmentosum variants. 61 56
11272118 1980
41
Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light. 61 56
5013606 1972
42
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy. 61 24
26996949 2016
43
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 61 24
27004399 2016
44
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 24 61
26884178 2016
45
Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia. 24 61
26211814 2016
46
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. 24 61
25566891 2015
47
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients. 61 24
24417420 2014
48
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 24 61
24130121 2014
49
Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions. 61 24
23889214 2013
50
Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration. 61 24
23928520 2013

Variations for Xeroderma Pigmentosum, Variant Type

ClinVar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

6 (show top 50) (show all 307) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XPC NM_004628.5(XPC):c.463C>T (p.Arg155Ter)SNV Pathogenic 496268 rs755825264 3:14209830-14209830 3:14168330-14168330
2 XPC NM_004628.5(XPC):c.2074A>T (p.Lys692Ter)SNV Pathogenic 496267 rs374117852 3:14193876-14193876 3:14152376-14152376
3 XPC NM_004628.5(XPC):c.1639_1640TG[2] (p.Val548fs)short repeat Pathogenic 262 rs754532049 3:14199739-14199740 3:14158239-14158240
4 XPA NM_001354975.1(XPA):c.218_222CTTAT[1] (p.Leu75fs)short repeat Pathogenic 994 rs1200172747 9:100451852-100451856 9:97689570-97689574
5 XPA NM_000380.3(XPA):c.682C>T (p.Arg228Ter)SNV Pathogenic 995 rs104894132 9:100437861-100437861 9:97675579-97675579
6 POLH POLH, 13-BP DEL, NT343deletion Pathogenic 5884
7 POLH POLH, 4-BP DEL, NT289deletion Pathogenic 5885
8 POLH POLH, 2-BP DEL, NT770deletion Pathogenic 5886
9 POLH NM_006502.2(POLH):c.916G>T (p.Glu306Ter)SNV Pathogenic 5887 rs121908562 6:43572383-43572383 6:43604646-43604646
10 POLH POLH, DEL AND TRP297TERdeletion Pathogenic 5888
11 POLH NM_001291969.2(POLH):c.118+4234C>TSNV Pathogenic 5889 rs121908563 6:43555112-43555112 6:43587375-43587375
12 POLH NM_006502.2(POLH):c.1117C>T (p.Gln373Ter)SNV Pathogenic 5890 rs121908564 6:43578333-43578333 6:43610596-43610596
13 POLH POLH, 104-BP DEL, NT661deletion Pathogenic 5891
14 POLH NM_006502.2(POLH):c.207del (p.Lys70fs)deletion Pathogenic 5892 rs1176350430 6:43550813-43550813 6:43583076-43583076
15 POLH NM_001291969.2(POLH):c.68_70TCT[1] (p.Phe24del)short repeat Pathogenic 5893 rs1426687865 6:43550828-43550830 6:43583091-43583093
16 ERCC5 NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter)SNV Pathogenic 16566 rs121434570 13:103524747-103524747 13:102872397-102872397
17 POLH NM_006502.2(POLH):c.764+1G>ASNV Pathogenic 224062 rs772570523 6:43568829-43568829 6:43601092-43601092
18 POLH NM_006502.2(POLH):c.907C>T (p.Arg303Ter)SNV Pathogenic 224063 rs759607901 6:43572374-43572374 6:43604637-43604637
19 XPC NM_004628.4(XPC):c.2251-1G>CSNV Pathogenic 190213 rs754673606 3:14190232-14190232 3:14148732-14148732
20 POLH NM_006502.2(POLH):c.725C>G (p.Ser242Ter)SNV Pathogenic 264680 rs745778317 6:43568789-43568789 6:43601052-43601052
21 POLH NM_001291970.2(POLH):c.*348deldeletion Pathogenic 264681 rs886039225 6:43581813-43581813 6:43614076-43614076
22 POLH NM_006502.2(POLH):c.1075-?_1244+?deldeletion Pathogenic 264682 6:43573056-43581397 6:43607987-43611911
23 XPA NM_000380.3(XPA):c.631C>T (p.Arg211Ter)SNV Pathogenic/Likely pathogenic 551809 rs149226993 9:100447247-100447247 9:97684965-97684965
24 POLH NM_006502.2(POLH):c.490G>T (p.Glu164Ter)SNV Likely pathogenic 225444 rs767433001 6:43555226-43555226 6:43587489-43587489
25 ERCC1 NM_001983.4(ERCC1):c.354T>C (p.Asn118=)SNV drug response 225945 rs11615 19:45923653-45923653 19:45420395-45420395
26 TMEM43 , XPC NM_004628.5(XPC):c.2815C>A (p.Gln939Lys)SNV drug response 190215 rs2228001 3:14187449-14187449 3:14145949-14145949
27 ERCC5 NM_000123.3(ERCC5):c.1173dup (p.Lys392Ter)duplication Likely pathogenic 517221 rs1283214655 13:103514670-103514671 13:102862320-102862321
28 XPA NM_000380.3(XPA):c.666dup (p.Val223fs)duplication Likely pathogenic 553445 rs1554701103 9:100447211-100447212 9:97684929-97684930
29 POLH NM_001291969.2(POLH):c.-6dupduplication Likely pathogenic 631984 rs752080248 6:43550754-43550755 6:43583017-43583018
30 POLH NM_006502.3(POLH):c.1473G>A (p.Gln491=)SNV Conflicting interpretations of pathogenicity 749045 6:43581625-43581625 6:43613888-43613888
31 POLH NM_006502.2(POLH):c.1603A>G (p.Lys535Glu)SNV Conflicting interpretations of pathogenicity 5894 rs56307355 6:43581755-43581755 6:43614018-43614018
32 XPC NM_004628.5(XPC):c.564_565AT[1] (p.Tyr189fs)short repeat Conflicting interpretations of pathogenicity 258 rs752088918 3:14208723-14208724 3:14167223-14167224
33 TMEM43 , XPC NM_004628.5(XPC):c.*133G>ASNV Conflicting interpretations of pathogenicity 343559 rs377250919 3:14187308-14187308 3:14145808-14145808
34 POLH NM_006502.2(POLH):c.2024C>A (p.Ser675Tyr)SNV Conflicting interpretations of pathogenicity 356915 rs151095678 6:43582176-43582176 6:43614439-43614439
35 ERCC2 NM_000400.3(ERCC2):c.1479+2dupduplication Conflicting interpretations of pathogenicity 329511 rs776705174 19:45860525-45860526 19:45357267-45357268
36 POLH NM_006502.2(POLH):c.*1103A>GSNV Uncertain significance 356934 rs886061445 6:43583397-43583397 6:43615660-43615660
37 XPA NM_000380.3(XPA):c.390-13A>CSNV Uncertain significance 364089 rs373762653 9:100449556-100449556 9:97687274-97687274
38 DDB2 NM_000107.2(DDB2):c.-31G>CSNV Uncertain significance 304915 rs375840702 11:47236657-47236657 11:47215106-47215106
39 XPA NM_000380.3(XPA):c.*234_*235deldeletion Uncertain significance 364084 rs568435573 9:100437486-100437487 9:97675204-97675205
40 DDB2 NM_000107.2(DDB2):c.1234+9G>ASNV Uncertain significance 304929 rs756484790 11:47259743-47259743 11:47238192-47238192
41 DDB2 NM_000107.2(DDB2):c.*334_*335deldeletion Uncertain significance 304933 rs4647761 11:47260733-47260734 11:47239182-47239183
42 POLH NM_006502.2(POLH):c.*3416G>CSNV Uncertain significance 356980 rs577482466 6:43585710-43585710 6:43617973-43617973
43 POLH NM_006502.2(POLH):c.*3685G>ASNV Uncertain significance 356982 rs867865820 6:43585979-43585979 6:43618242-43618242
44 POLH NM_006502.2(POLH):c.*3692G>ASNV Uncertain significance 356983 rs568140214 6:43585986-43585986 6:43618249-43618249
45 POLH NM_006502.2(POLH):c.*3753C>TSNV Uncertain significance 356985 rs373349453 6:43586047-43586047 6:43618310-43618310
46 POLH NM_001291969.2(POLH):c.*4388_*4392TATTT[1]short repeat Uncertain significance 356993 rs565512423 6:43586679-43586683 6:43618942-43618946
47 POLH NM_006502.2(POLH):c.*4734G>ASNV Uncertain significance 357001 rs192191937 6:43587028-43587028 6:43619291-43619291
48 POLH NM_001291969.2(POLH):c.*5071_*5072AG[2]short repeat Uncertain significance 357008 rs886061473 6:43587365-43587366 6:43619628-43619629
49 POLH NM_006502.2(POLH):c.*5199A>GSNV Uncertain significance 357010 rs886061475 6:43587493-43587493 6:43619756-43619756
50 POLH NM_006502.2(POLH):c.-288C>TSNV Uncertain significance 356883 rs886061429 6:43543894-43543894 6:43576157-43576157

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

73
# 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 rs141370315
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

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:

36
# 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
12.68 XRCC1 XPC XPA TP53 RAD23B POLH
2 12.61 XRCC1 XPC XPA TP53 RPA1 RAD23B
3
Show member pathways
12.6 XRCC1 XPC XPA TP53 RPA1 RAD23B
4
Show member pathways
12.59 XRCC1 XPC XPA RPA1 RAD23B ERCC8
5
Show member pathways
12.16 RPA1 POLI POLH DDB1 CUL4A
6
Show member pathways
12.11 RPA1 POLH ERCC4 ERCC1
7
Show member pathways
12.1 XPC XPA RPA1 RAD23B ERCC8 ERCC6
8 11.94 ERCC8 DDB2 DDB1 CUL4A
9 11.77 RPA1 POLI POLH ERCC4 ERCC1
10
Show member pathways
11.75 ERCC6 ERCC3 ERCC2
11 11.62 XPA TP53 POLH ERCC1
12 11.56 XPC XPA TP53 ERCC3 ERCC2
13 11.37 XPA POLH ERCC6 ERCC4 ERCC3 ERCC2

GO Terms for Xeroderma Pigmentosum, Variant Type

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.13 XRCC1 XPC XPA TP53 RPA1 RAD23B
2 nuclear chromosome, telomeric region GO:0000784 9.83 XRCC1 RPA1 ERCC4 ERCC1 DDB1
3 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.71 ERCC8 DDB2 DDB1 CUL4A
4 transcription factor TFIID complex GO:0005669 9.7 TP53 ERCC3 ERCC2
5 site of DNA damage GO:0090734 9.67 XPC RPA1 ERCC6
6 DNA replication factor A complex GO:0005662 9.65 XPA RPA1 ERCC5
7 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.63 ERCC8 DDB1 CUL4A
8 nucleoplasm GO:0005654 9.6 XRCC1 XPC XPA TP53 RPA1 RAD23B
9 cullin-RING ubiquitin ligase complex GO:0031461 9.56 DDB1 CUL4A
10 transcription factor TFIIH holo complex GO:0005675 9.55 ERCC3 ERCC2
11 transcription factor TFIIH core complex GO:0000439 9.54 ERCC3 ERCC2
12 ERCC4-ERCC1 complex GO:0070522 9.54 XRCC1 ERCC4 ERCC1
13 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.51 DDB2 DDB1
14 XPC complex GO:0071942 9.5 XPC RAD23B CETN2
15 nucleotide-excision repair factor 1 complex GO:0000110 9.43 XPA ERCC4 ERCC1
16 nucleotide-excision repair complex GO:0000109 9.35 XPC ERCC8 ERCC5 ERCC4 ERCC1

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 nucleotide-excision repair, DNA incision GO:0033683 10.18 XPA RPA1 ERCC5 ERCC4 ERCC3 ERCC2
2 response to UV GO:0009411 10.16 XPA TP53 ERCC8 ERCC6 ERCC5 ERCC4
3 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 10.16 XPA RPA1 ERCC5 ERCC4 ERCC3 ERCC2
4 nucleotide-excision repair, DNA duplex unwinding GO:0000717 10.15 XPC XPA RAD23B ERCC3 ERCC2 DDB2
5 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 10.13 XPA RPA1 ERCC5 ERCC4 ERCC3 ERCC2
6 global genome nucleotide-excision repair GO:0070911 10.11 XPC XPA RAD23B ERCC4 ERCC3 ERCC2
7 viral process GO:0016032 10.1 TP53 ERCC3 ERCC2 DDB1 CUL4A
8 response to oxidative stress GO:0006979 10.1 XPA TP53 ERCC8 ERCC6 ERCC3 ERCC2
9 nucleotide-excision repair, preincision complex stabilization GO:0006293 10.1 XPA RPA1 ERCC5 ERCC4 ERCC3 ERCC2
10 nucleotide-excision repair, DNA damage recognition GO:0000715 10.07 XPC XPA RAD23B DDB2 DDB1 CUL4A
11 nucleotide-excision repair, preincision complex assembly GO:0006294 10.06 XPC XPA RPA1 RAD23B ERCC5 ERCC3
12 transcription-coupled nucleotide-excision repair GO:0006283 10.03 XRCC1 XPA RPA1 ERCC8 ERCC6 ERCC5
13 UV protection GO:0009650 10.01 XPA ERCC5 ERCC4 ERCC3 ERCC2 ERCC1
14 multicellular organism growth GO:0035264 10 XPA TP53 ERCC6 ERCC2 ERCC1
15 nucleotide-excision repair GO:0006289 10 XPC XPA TP53 RPA1 RAD23B ERCC8
16 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.98 RAD23B ERCC8 DDB1 CUL4A
17 embryonic organ development GO:0048568 9.97 TP53 RAD23B ERCC3 ERCC2 ERCC1
18 UV-damage excision repair GO:0070914 9.95 XPC XPA ERCC1 DDB2 DDB1
19 regulation of mitotic cell cycle phase transition GO:1901990 9.94 XPC ERCC3 ERCC2 DDB1
20 DNA duplex unwinding GO:0032508 9.93 ERCC8 ERCC6 ERCC3 ERCC2
21 base-excision repair GO:0006284 9.91 XRCC1 XPA RPA1 ERCC6
22 DNA repair GO:0006281 9.91 XRCC1 XPC XPA RPA1 RAD23B POLI
23 response to X-ray GO:0010165 9.88 TP53 ERCC8 ERCC6 ERCC1
24 double-strand break repair via homologous recombination GO:0000724 9.87 XRCC1 RPA1 ERCC4
25 double-strand break repair via nonhomologous end joining GO:0006303 9.86 XRCC1 ERCC4 ERCC1
26 interstrand cross-link repair GO:0036297 9.85 RPA1 ERCC4 ERCC1
27 DNA damage response, detection of DNA damage GO:0042769 9.83 RPA1 DDB1 CUL4A
28 translesion synthesis GO:0019985 9.83 RPA1 POLI POLH
29 transcription elongation from RNA polymerase I promoter GO:0006362 9.83 ERCC6 ERCC3 ERCC2
30 error-prone translesion synthesis GO:0042276 9.82 RPA1 POLI POLH
31 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.8 XPA ERCC6 ERCC1
32 response to auditory stimulus GO:0010996 9.8 XPC XPA ERCC8
33 single strand break repair GO:0000012 9.79 XRCC1 ERCC8 ERCC6
34 pyrimidine dimer repair GO:0006290 9.78 POLH ERCC6 DDB2
35 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.77 XRCC1 ERCC4 ERCC1
36 telomeric DNA-containing double minutes formation GO:0061819 9.76 XRCC1 ERCC4 ERCC1
37 hematopoietic stem cell differentiation GO:0060218 9.7 TP53 ERCC2
38 histone H2A monoubiquitination GO:0035518 9.7 DDB2 DDB1
39 negative regulation of telomerase activity GO:0051974 9.69 TP53 ERCC4
40 response to UV-C GO:0010225 9.69 POLH ERCC5
41 response to UV-B GO:0010224 9.69 XPC ERCC6
42 cellular response to UV-C GO:0071494 9.68 TP53 POLH
43 double-strand break repair via classical nonhomologous end joining GO:0097680 9.68 ERCC8 ERCC6
44 hair cell differentiation GO:0035315 9.67 ERCC3 ERCC2
45 negative regulation of telomere maintenance GO:0032205 9.67 ERCC4 ERCC1
46 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.66 XPC ERCC1
47 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.65 XPA ERCC4
48 cellular response to DNA damage stimulus GO:0006974 9.6 XRCC1 XPC XPA TP53 RPA1 RAD23B

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.49 XRCC1 XPC XPA TP53 RPA1 RAD23B
2 protein-containing complex binding GO:0044877 9.97 XPC ERCC8 ERCC6 ERCC5 DDB2 DDB1
3 protein C-terminus binding GO:0008022 9.88 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
4 DNA binding GO:0003677 9.83 XPC XPA TP53 RPA1 POLI POLH
5 DNA helicase activity GO:0003678 9.76 ERCC8 ERCC6 ERCC3 ERCC2
6 promoter-specific chromatin binding GO:1990841 9.73 TP53 ERCC4 ERCC3 ERCC1
7 protein N-terminus binding GO:0047485 9.73 TP53 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
8 endonuclease activity GO:0004519 9.72 ERCC5 ERCC4 ERCC1
9 DNA-dependent ATPase activity GO:0008094 9.67 ERCC8 ERCC6 ERCC3 ERCC2
10 single-stranded DNA binding GO:0003697 9.63 XPC RPA1 RAD23B ERCC5 ERCC4 ERCC1
11 TFIID-class transcription factor complex binding GO:0001094 9.58 TP53 ERCC4 ERCC1
12 endodeoxyribonuclease activity GO:0004520 9.56 ERCC5 ERCC4
13 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.54 ERCC4 ERCC1
14 bubble DNA binding GO:0000405 9.52 XPC ERCC5
15 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.5 XRCC1 ERCC4 ERCC1
16 damaged DNA binding GO:0003684 9.44 XRCC1 XPC XPA RPA1 RAD23B POLI

Sources for Xeroderma Pigmentosum, Variant Type

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
Content
Loading form....