XPV
MCID: XRD010
MIFTS: 72

Xeroderma Pigmentosum, Variant Type (XPV)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

MalaCards integrated aliases for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 57 19 75 12 43
Xeroderma Pigmentosum 11 24 19 42 58 75 28 53 5 43 14 31 33
Xeroderma Pigmentosum Variant Type 11 73 28 5 14
Xpv 57 11 19 58 73
Xeroderma Pigmentosum with Normal Dna Repair Rates 57 11 19 73
Photosensitivity with Defective Dna Synthesis 57 11 19
De Sanctis-Cacchione Syndrome 19 71
Desanctis-Cacchione Syndrome 42 75
Xp 19 42
Xeroderma Pigmentosum Variant 58
Xp - [xeroderma Pigmentosum] 33
Atrophoderma Pigmentosum 33
Xeroderma Pigmentosa 19
Xerodermic Idiocy 19

Characteristics:


Inheritance:

Xeroderma Pigmentosum, Variant Type: Autosomal recessive 57
Xeroderma Pigmentosum: Autosomal recessive 58
Xeroderma Pigmentosum Variant: Autosomal recessive 58

Prevelance:

Xeroderma Pigmentosum: 1-9/1000000 (United States, United Kingdom, Netherlands, Italy, France, Germany) 1-9/100000 (Japan) 58
Xeroderma Pigmentosum Variant: <1/1000000 (Worldwide) 58

Age Of Onset:

Xeroderma Pigmentosum: All ages 58
Xeroderma Pigmentosum Variant: Adolescent,Adult 58

Classifications:

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


Summaries for Xeroderma Pigmentosum, Variant Type

MedlinePlus Genetics: 42 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 f and de sanctis-cacchione syndrome. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). The drugs Afamelanotide and Lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and tongue, and related phenotypes are failure to thrive and eeg abnormality

GARD: 19 Xeroderma pigmentosum (XP) causes the skin and eyes to be extra sensitive to exposure to ultraviolet radiation from the sun and other sources. Symptoms begin in early childhood. People with XP can develop bad sunburns, blistering, and freckling in response to sunlight. The eyes may develop light sensitivity, corneal clouding, and swelling. Some people with XP have nervous system involvement as well. People with XP are at very high risk of developing skin cancer and other types of cancers. XP is caused by variants in one of at least nine genes involved in repairing damaged DNA. XP is inherited in an autosomal recessive pattern. Diagnosis is based on the clinical findings and specialized testing on skin cells. The diagnosis can be confirmed by the results of genetic testing.

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet 58 Xeroderma pigmentosum variant: Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.

Xeroderma pigmentosum: Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

Disease Ontology 11 Xeroderma pigmentosum: 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.

Xeroderma pigmentosum variant type: A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has material basis in mutations in the POLH gene on chromosome 6p21.1.

Wikipedia 75 Desanctis-cacchione syndrome: DeSanctis-Cacchione syndrome or Xeroderma pigmentosum is a genetic disorder characterized by the skin... more...

Xeroderma pigmentosum: 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 439)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group f 34.1 XRCC1 XPA RAD23B ERCC6 ERCC5 ERCC4
2 de sanctis-cacchione syndrome 34.0 XPA RAD23B POLH ERCC8 ERCC6 ERCC3
3 xeroderma pigmentosum, complementation group d 33.9 XRCC1 XPA ERCC3 ERCC2 ERCC1
4 xeroderma pigmentosum, complementation group b 33.8 XPA ERCC6 ERCC3 ERCC2 ERCC1
5 xeroderma pigmentosum, complementation group e 33.7 XPC XPA ERCC5 DDB2 DDB1 CUL4A
6 xeroderma pigmentosum group e 33.6 XPA ERCC6 DDB2 DDB1 CUL4A
7 xeroderma pigmentosum-cockayne syndrome complex 33.4 ERCC5 ERCC4 ERCC3 ERCC2 BIVM-ERCC5
8 cockayne syndrome a 33.2 XRCC1 XPC XPA RAD23B ERCC8 ERCC6
9 cockayne syndrome b 33.0 XPA RAD23B POLI ERCC8 ERCC6 ERCC3
10 cerebrooculofacioskeletal syndrome 3 32.9 ERCC5 BIVM-ERCC5
11 cerebrooculofacioskeletal syndrome 1 32.7 ERCC6 ERCC5 ERCC3 ERCC2 ERCC1
12 cerebrooculofacioskeletal syndrome 2 32.3 ERCC6 ERCC2
13 fanconi anemia, complementation group a 31.9 XRCC1 XPA RPA1 POLH ERCC6 ERCC4
14 uv-sensitive syndrome 31.7 XPC XPA RAD23B ERCC8 ERCC6 ERCC5
15 ataxia-telangiectasia 31.7 XRCC1 XPA RPA1 ERCC3
16 trichothiodystrophy 31.5 XRCC1 XPC XPA RPA1 RAD23B POLH
17 cockayne syndrome 31.5 XPC XPA POLR1C ERCC8 ERCC6 ERCC5
18 skin carcinoma 31.4 XPC XPA POLH ERCC6 ERCC3 ERCC2
19 skin benign neoplasm 31.4 XPA ERCC3 ERCC2
20 fanconi anemia, complementation group q 31.3 ERCC6 ERCC4
21 photoparoxysmal response 1 31.3 XPA ERCC6
22 xeroderma pigmentosum, complementation group a 31.2 XRCC1 XPC XPA RPA1 RAD23B ERCC6
23 rothmund-thomson syndrome, type 2 31.1 ERCC6 ERCC3 ERCC2
24 trichothiodystrophy 3, photosensitive 31.0 ERCC6 ERCC3 ERCC2 DDB2 CETN2
25 xeroderma pigmentosum, complementation group g 31.0 XRCC1 XPC XPA RAD23B POLH ERCC8
26 basal cell carcinoma 31.0 XRCC1 XPA ERCC6 ERCC2 ERCC1
27 cerebrooculofacioskeletal syndrome 31.0 XPA RAD23B ERCC8 ERCC6 ERCC5 ERCC4
28 xeroderma pigmentosum, complementation group c 30.9 XRCC1 XPC XPA RAD23B ERCC6 ERCC3
29 lynch syndrome 30.8 XRCC1 XPA ERCC6 ERCC2 ERCC1
30 melanoma 11.3
31 xeroderma pigmentosum, autosomal dominant, mild 11.2
32 cerebrooculofacioskeletal syndrome 4 11.2
33 squamous cell carcinoma 10.8
34 keratosis 10.7
35 telangiectasis 10.7
36 xfe progeroid syndrome 10.6 XPA ERCC8 ERCC6 ERCC5 ERCC4 ERCC3
37 skin squamous cell carcinoma 10.6
38 actinic keratosis 10.6
39 microcephaly 10.6
40 deficiency anemia 10.6
41 allergic disease 10.6
42 premature aging 10.6
43 hereditary breast ovarian cancer syndrome 10.6 XRCC1 ERCC6 ERCC4 ERCC2 ERCC1
44 aplastic anemia 10.5 XPA ERCC6 ERCC4 ERCC2 ERCC1
45 congenital nervous system abnormality 10.5 XRCC1 XPA ERCC8 ERCC6 ERCC3 ERCC2
46 conjunctival squamous cell carcinoma 10.5
47 fibrous histiocytoma 10.5
48 keratoacanthoma 10.5
49 cockayne syndrome type iii 10.5 ERCC8 ERCC6
50 fanconi anemia, complementation group e 10.5

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 30 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002353
3 developmental regression 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002376
4 abnormality of the dentition 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000164
5 optic atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000648
6 cognitive impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100543
7 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012378
8 fever 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001945
9 dry skin 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000958
10 conjunctival telangiectasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000524
11 arthralgia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002829
12 telangiectasia of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100585
13 freckling 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001480
14 cutaneous photosensitivity 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0000992
15 intellectual disability, progressive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006887
16 hypopigmentation of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001010
17 hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000135
18 thin skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000963
19 poikiloderma 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001029
20 freckles in sun-exposed areas 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007603
21 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
22 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
23 photophobia 58 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
HP:0000613
24 hyperkeratosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000962
25 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
26 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
27 melanoma 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0002861
28 hypopigmented skin patches 58 30 Frequent (33%) Frequent (79-30%)
HP:0001053
29 erythema 58 30 Frequent (33%) Frequent (79-30%)
HP:0010783
30 keratitis 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000491
31 hypermelanotic macule 58 30 Frequent (33%) Frequent (79-30%)
HP:0001034
32 papilloma 58 30 Frequent (33%) Frequent (79-30%)
HP:0012740
33 basal cell carcinoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0002671
34 squamous cell carcinoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0002860
35 telangiectasia 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001009
36 dermal atrophy 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0004334
37 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
38 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
39 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
40 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
41 craniofacial hyperostosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004493
42 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
43 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
44 aminoaciduria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003355
45 opacification of the corneal stroma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007759
46 melanocytic nevus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000995
47 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
48 reduced tendon reflexes 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001315
49 cerebral cortical atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002120
50 abnormality of extrapyramidal motor function 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002071

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.74 CUL4A DDB2 ERCC4 ERCC5 ERCC6 RPA1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.74 CUL4A DDB2 ERCC1 ERCC4 ERCC5 ERCC6
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.74 DDB2 ERCC1 ERCC4 ERCC5 ERCC6 ERCC8
4 no effect GR00402-S-1 10.17 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
5 no effect GR00402-S-2 10.17 CETN2 CUL4A DDB2 ERCC1 ERCC2 ERCC3
6 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.13 ERCC6 POLH RAD23B
7 Increased S length, increased G2 length GR00237-A 8.96 DDB1

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
2 cellular MP:0005384 10.31 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
3 homeostasis/metabolism MP:0005376 10.3 CUL4A ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
4 neoplasm MP:0002006 10.29 CUL4A DDB2 ERCC1 ERCC2 ERCC3 ERCC6
5 behavior/neurological MP:0005386 10.18 CUL4A DDB1 ERCC1 ERCC2 ERCC3 ERCC4
6 immune system MP:0005387 10.1 CUL4A DDB1 ERCC1 ERCC2 ERCC5 ERCC6
7 vision/eye MP:0005391 10 CETN2 DDB1 ERCC1 ERCC2 ERCC4 ERCC6
8 hematopoietic system MP:0005397 9.93 CUL4A DDB1 ERCC1 ERCC2 ERCC3 ERCC5
9 mortality/aging MP:0010768 9.89 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
10 integument MP:0010771 9.44 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC5

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Afamelanotide Approved, Investigational Phase 2 75921-69-6 16132954 16197727
2
Lenalidomide Approved Phase 2 191732-72-6 216326
3 Dermatologic Agents Phase 2
4 Angiogenesis Inhibitors Phase 2
5 Immunologic Factors Phase 2
6
Isotretinoin Approved, Investigational, Nutraceutical 302-79-4, 4759-48-2 5538 444795 5282379
7 Sunscreening Agents

Interventional clinical trials:

(show all 13)
# 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 A Proof of Concept, Phase IIa, Open Label Study to Evaluate the Safety and Efficacy of Subcutaneous Implants of Afamelanotide in Patients With Xeroderma Pigmentosum (XP) Recruiting NCT05159752 Phase 2 Afamelanotide
3 A Proof of Concept, Phase IIa, Open Label Study to Evaluate the Safety and Efficacy of Subcutaneous Implants of Afamelanotide in Patients With Xeroderma Pigmentosum C and V (XPC and XPV) Recruiting NCT05370235 Phase 2 Afamelanotide
4 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
5 3CI Study: Childhood Cancer Combination Immunotherapy. Phase Ib and Expansion Study of Nivolumab Combination Immunotherapy in Children, Adolescent and Young Adult (CAYA) Patients With Relapsed/Refractory Hypermutant Cancers Withdrawn NCT04500548 Phase 1
6 Xeroderma Pigmentosum: A Survey of Patient Experiences Unknown status NCT01123694
7 Epidemiological Description of the Kaposi's Disease in France's Southeast Unknown status NCT03662828
8 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
9 Use Of Isotretinion For Prevention Of Skin Cancer In Patients With Xeroderma Pigmentosum Or Nevoid Basal Cell Carcinoma Syndrome Completed NCT00025012 isotretinoin
10 The XPAND Evaluation of a Personalised Adherence Intervention to Improve Photoprotection Behaviour in Adults With Xeroderma Pigmentosum (XP): Randomised Controlled Trial. Completed NCT03445052
11 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
12 Cancer Risk in Xeroderma Pigmentosum Heterozygotes Recruiting NCT00046189
13 Natural History Study for DNA Repair Disorders Recruiting NCT05484570

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 28 POLH
2 Xeroderma Pigmentosum 28 ERCC1

Anatomical Context for Xeroderma Pigmentosum, Variant Type

Organs/tissues related to Xeroderma Pigmentosum, Variant Type:

MalaCards : Skin, Eye, Tongue, Lung, Brain, Bone Marrow, Breast

Publications for Xeroderma Pigmentosum, Variant Type

Articles related to Xeroderma Pigmentosum, Variant Type:

(show top 50) (show all 4607)
# Title Authors PMID Year
1
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. 53 62 57 5
10385124 1999
2
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. 53 62 24 5
20054342 2010
3
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. 53 62 24 5
18470933 2008
4
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. 53 62 24 5
16947863 2006
5
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. 53 62 24 5
16905156 2006
6
Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation. 62 57 5
11121129 2000
7
hRAD30 mutations in the variant form of xeroderma pigmentosum. 62 57 5
10398605 1999
8
Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F. 62 24 5
29892709 2018
9
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 62 24 5
27004399 2016
10
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 62 24 5
26884178 2016
11
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. 62 24 5
25566891 2015
12
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations. 62 24 5
24130121 2014
13
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D). 62 24 5
24252196 2013
14
Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C. 62 24 5
23278166 2013
15
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 62 24 5
23623389 2013
16
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 62 24 5
22826098 2012
17
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew. 62 24 5
19917958 2009
18
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. 62 24 5
18703314 2008
19
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). 53 62 5
18637129 2009
20
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC. 53 62 5
17079196 2007
21
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients. 53 62 5
12820975 2003
22
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 53 62 5
11841555 2002
23
Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. 53 62 5
11121128 2000
24
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. 53 62 5
10766188 2000
25
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 53 62 5
9579555 1998
26
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. 53 62 5
9671271 1998
27
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 53 62 5
9238033 1997
28
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 53 62 5
7951246 1994
29
Three nonsense mutations responsible for group A xeroderma pigmentosum. 53 62 5
1372102 1992
30
Characterization of a splicing mutation in group A xeroderma pigmentosum. 53 62 5
1702221 1990
31
XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil. 62 5
35111200 2021
32
Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations. 62 5
32522879 2020
33
Heterogeneity and overlaps in nucleotide excision repair disorders. 62 5
30919937 2020
34
Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series. 62 5
31478152 2020
35
Monozygotic twins with group C xeroderma pigmentosum due to a compound heterozygous mutation in XPC gene. 62 5
30101995 2019
36
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype. 62 5
30838033 2019
37
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population. 62 5
30516811 2019
38
Neurological manifestations of xeroderma pigmentosum due to XPA gene mutation. 62 5
30077970 2018
39
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. 62 5
30165384 2018
40
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features. 62 5
29749609 2018
41
A case of xeroderma pigmentosum complementation group C with diverse clinical features. 62 5
29330851 2018
42
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. 62 5
29403087 2018
43
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 62 5
29105242 2018
44
Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF. 62 5
29325523 2018
45
Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile. 62 5
29208038 2017
46
A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report. 62 5
28615033 2017
47
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. 62 5
28431612 2017
48
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. 62 5
27607234 2017
49
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population. 62 5
27982466 2017
50
A unique chromosomal in-frame deletion identified among seven XP-C patients. 62 5
27387384 2016

Variations for Xeroderma Pigmentosum, Variant Type

ClinVar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

5 (show top 50) (show all 613)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLH, POLR1C NM_006502.3(POLH):c.222TCT[1] (p.Leu77del) MICROSAT Pathogenic
5893 rs1426687865 GRCh37: 6:43550828-43550830
GRCh38: 6:43583091-43583093
2 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) SNV Pathogenic
16566 rs121434570 GRCh37: 13:103524747-103524747
GRCh38: 13:102872397-102872397
3 XPC NM_004628.5(XPC):c.1704T>A (p.Tyr568Ter) SNV Pathogenic
928577 rs1695999145 GRCh37: 3:14199679-14199679
GRCh38: 3:14158179-14158179
4 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.922_923del (p.Leu308fs) MICROSAT Pathogenic
929130 rs1882641004 GRCh37: 13:103514418-103514419
GRCh38: 13:102862068-102862069
5 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2751del (p.Lys917fs) DEL Pathogenic
16576 rs752661599 GRCh37: 13:103524612-103524612
GRCh38: 13:102872262-102872262
6 XPC NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) SNV Pathogenic
259 rs121965088 GRCh37: 3:14199648-14199648
GRCh38: 3:14158148-14158148
7 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.2606_2607del (p.Val869fs) MICROSAT Pathogenic
1065165 GRCh37: 13:103520533-103520534
GRCh38: 13:102868183-102868184
8 XPA NM_000380.4(XPA):c.619C>T (p.Arg207Ter) SNV Pathogenic
996 rs104894133 GRCh37: 9:100447259-100447259
GRCh38: 9:97684977-97684977
9 POLH, POLR1C NM_006502.3(POLH):c.672_673insT (p.Leu225fs) INSERT Pathogenic
1119983 GRCh37: 6:43568736-43568737
GRCh38: 6:43600999-43601000
10 XPC NM_004628.5(XPC):c.622-2A>C SNV Pathogenic
190209 rs201940931 GRCh37: 3:14207087-14207087
GRCh38: 3:14165587-14165587
11 XPC NM_004628.5(XPC):c.463C>T (p.Arg155Ter) SNV Pathogenic
496268 rs755825264 GRCh37: 3:14209830-14209830
GRCh38: 3:14168330-14168330
12 XPC NM_004628.5(XPC):c.566_567del (p.Tyr189fs) MICROSAT Pathogenic
258 rs752088918 GRCh37: 3:14208723-14208724
GRCh38: 3:14167223-14167224
13 XPC NM_004628.5(XPC):c.2074A>T (p.Lys692Ter) SNV Pathogenic
496267 rs374117852 GRCh37: 3:14193876-14193876
GRCh38: 3:14152376-14152376
14 XPC NM_004628.5(XPC):c.1103_1104del (p.Gln368fs) DEL Pathogenic
267279 rs1450238352 GRCh37: 3:14200279-14200280
GRCh38: 3:14158779-14158780
15 XPA NM_000380.4(XPA):c.555+8A>G SNV Pathogenic
852033 rs756967163 GRCh37: 9:100449370-100449370
GRCh38: 9:97687088-97687088
16 POLH POLH, DEL AND TRP297TER SNV Pathogenic
5888 GRCh37:
GRCh38:
17 POLH, POLR1C NM_006502.3(POLH):c.1078dup (p.Asp360fs) DUP Pathogenic
1696282 rs1277794845 GRCh37: 6:43578293-43578294
GRCh38: 6:43610556-43610557
18 XPA NM_000380.4(XPA):c.349_353del (p.Leu117fs) MICROSAT Pathogenic
994 rs1200172747 GRCh37: 9:100451852-100451856
GRCh38: 9:97689570-97689574
19 XPC NM_004628.5(XPC):c.420_423del (p.Glu141fs) DEL Pathogenic
550638 rs1330667099 GRCh37: 3:14209870-14209873
GRCh38: 3:14168370-14168373
20 XPA NM_000380.4(XPA):c.331G>T (p.Glu111Ter) SNV Pathogenic
557900 rs769255883 GRCh37: 9:100451874-100451874
GRCh38: 9:97689592-97689592
21 XPC NM_004628.5(XPC):c.658C>T (p.Arg220Ter) SNV Pathogenic
550020 rs745679643 GRCh37: 3:14207049-14207049
GRCh38: 3:14165549-14165549
22 ERCC4 NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) SNV Pathogenic
55829 rs147105770 GRCh37: 16:14029554-14029554
GRCh38: 16:13935697-13935697
23 XPA NM_000380.4(XPA):c.648_649del (p.Lys217fs) DEL Pathogenic
374933 rs1057519018 GRCh37: 9:100447229-100447230
GRCh38: 9:97684947-97684948
24 POLH, POLR1C NM_006502.2(POLH):c.1075-?_1244+?del DEL Pathogenic
264682 GRCh37: 6:43573056-43581397
GRCh38: 6:43607987-43611911
25 POLH POLH, 2-BP DEL, NT770 DEL Pathogenic
5886 GRCh37:
GRCh38:
26 BIVM-ERCC5, ERCC5 NM_000123.4(ERCC5):c.1975del (p.Ser659fs) DEL Pathogenic
1696064 GRCh37: 13:103518035-103518035
GRCh38: 13:102865685-102865685
27 XPA NM_000380.4(XPA):c.631C>T (p.Arg211Ter) SNV Pathogenic
551809 rs149226993 GRCh37: 9:100447247-100447247
GRCh38: 9:97684965-97684965
28 XPC NM_004628.5(XPC):c.1643_1644del (p.Val548fs) MICROSAT Pathogenic
262 rs754532049 GRCh37: 3:14199739-14199740
GRCh38: 3:14158239-14158240
29 XPC NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) SNV Pathogenic
438623 rs757958943 GRCh37: 3:14200140-14200140
GRCh38: 3:14158640-14158640
30 ERCC2 NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) SNV Pathogenic
329508 rs376556895 GRCh37: 19:45856059-45856059
GRCh38: 19:45352801-45352801
31 XPC NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) SNV Pathogenic
551486 rs754775337 GRCh37: 3:14190412-14190412
GRCh38: 3:14148912-14148912
32 ERCC3 NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) DUP Pathogenic
134130 rs587778281 GRCh37: 2:128038128-128038129
GRCh38: 2:127280552-127280553
33 POLH, POLR1C NM_006502.3(POLH):c.106_118del (p.Val36fs) DEL Pathogenic
5884 GRCh37: 6:43550160-43550172
GRCh38: 6:43582423-43582435
34 POLH, POLR1C NM_006502.3(POLH):c.54_57del (p.Val19fs) DEL Pathogenic
5885 GRCh37: 6:43550108-43550111
GRCh38: 6:43582371-43582374
35 POLH, POLR1C NM_006502.3(POLH):c.916G>T (p.Glu306Ter) SNV Pathogenic
5887 rs121908562 GRCh37: 6:43572383-43572383
GRCh38: 6:43604646-43604646
36 POLH, POLR1C NM_006502.3(POLH):c.376C>T (p.Gln126Ter) SNV Pathogenic
5889 rs121908563 GRCh37: 6:43555112-43555112
GRCh38: 6:43587375-43587375
37 POLH, POLR1C NM_006502.3(POLH):c.1117C>T (p.Gln373Ter) SNV Pathogenic
5890 rs121908564 GRCh37: 6:43578333-43578333
GRCh38: 6:43610596-43610596
38 POLH NM_006502.3(POLH):c.663_764+2del DEL Pathogenic
5891 GRCh37:
GRCh38:
39 POLH, POLR1C NM_006502.3(POLH):c.207del (p.Lys70fs) DEL Pathogenic
5892 rs1176350430 GRCh37: 6:43550813-43550813
GRCh38: 6:43583076-43583076
40 XPA NM_000380.4(XPA):c.555G>C (p.Gln185His) SNV Pathogenic
550646 rs746617574 GRCh37: 9:100449378-100449378
GRCh38: 9:97687096-97687096
41 POLH, POLR1C NM_006502.3(POLH):c.907C>T (p.Arg303Ter) SNV Pathogenic
224063 rs759607901 GRCh37: 6:43572374-43572374
GRCh38: 6:43604637-43604637
42 POLH, POLR1C NM_006502.3(POLH):c.764+1G>A SNV Pathogenic
224062 rs772570523 GRCh37: 6:43568829-43568829
GRCh38: 6:43601092-43601092
43 XPC NM_004628.5(XPC):c.2251-1G>C SNV Pathogenic
190213 rs754673606 GRCh37: 3:14190232-14190232
GRCh38: 3:14148732-14148732
44 XPA NM_000380.4(XPA):c.682C>T (p.Arg228Ter) SNV Pathogenic
995 rs104894132 GRCh37: 9:100437861-100437861
GRCh38: 9:97675579-97675579
45 POLH, POLR1C NM_006502.3(POLH):c.490G>T (p.Glu164Ter) SNV Pathogenic
Likely Pathogenic
225444 rs767433001 GRCh37: 6:43555226-43555226
GRCh38: 6:43587489-43587489
46 XPA NM_000380.4(XPA):c.390-1G>C SNV Pathogenic
264684 rs750218942 GRCh37: 9:100449544-100449544
GRCh38: 9:97687262-97687262
47 POLH, POLR1C NM_006502.3(POLH):c.638C>G (p.Ser213Ter) SNV Pathogenic
1686085 GRCh37: 6:43565580-43565580
GRCh38: 6:43597843-43597843
48 POLH, POLR1C NM_006502.3(POLH):c.1561C>T (p.Gln521Ter) SNV Likely Pathogenic
1333587 GRCh37: 6:43581713-43581713
GRCh38: 6:43613976-43613976
49 POLH, POLR1C NM_006502.3(POLH):c.149dup (p.Ser51fs) DUP Likely Pathogenic
631984 rs752080248 GRCh37: 6:43550754-43550755
GRCh38: 6:43583017-43583018
50 ERCC2 NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) SNV Likely Pathogenic
997520 rs376556895 GRCh37: 19:45856059-45856059
GRCh38: 19:45352801-45352801

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 rs1561900151
3 POLH p.Gly263Val VAR_021230 rs1413703153
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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 XRCC1 XPC XPA RPA1 RAD23B POLI
2
Show member pathways
12.96 CUL4A CETN2 DDB1 DDB2 ERCC1 ERCC2
3
Show member pathways
12.67 XRCC1 XPC XPA RPA1 RAD23B POLI
4
Show member pathways
12.3 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6
5
Show member pathways
12.14 RPA1 POLI POLH DDB1 CUL4A
6 11.87 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
7 11.73 XPC POLH ERCC5 DDB2
8
Show member pathways
11.68 POLR1C ERCC6 ERCC3 ERCC2
9 11.51 XPC XPA ERCC3 ERCC2
10 11.37 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 POLH

GO Terms for Xeroderma Pigmentosum, Variant Type

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.68 BIVM-ERCC5 CETN2 CUL4A DDB1 DDB2 ERCC1
2 nucleoplasm GO:0005654 10.23 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
3 chromosome, telomeric region GO:0000781 10.19 XRCC1 RPA1 ERCC4 ERCC1 DDB1
4 Cul4-RING E3 ubiquitin ligase complex GO:0080008 10.06 ERCC8 DDB2 DDB1 CUL4A
5 ERCC4-ERCC1 complex GO:0070522 9.88 XRCC1 ERCC4 ERCC1
6 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.86 ERCC8 DDB2 DDB1 CUL4A
7 nucleotide-excision repair factor 1 complex GO:0000110 9.85 ERCC1 ERCC4 XPA
8 site of DNA damage GO:0090734 9.85 DDB2 ERCC6 RPA1 XPC XRCC1
9 transcription factor TFIIH holo complex GO:0005675 9.84 ERCC3 ERCC2
10 transcription factor TFIIH core complex GO:0000439 9.83 ERCC3 ERCC2
11 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.81 DDB2 DDB1
12 XPC complex GO:0071942 9.8 CETN2 RAD23B XPC
13 DNA replication factor A complex GO:0005662 9.78 ERCC5 RPA1 XPA
14 nucleotide-excision repair complex GO:0000109 9.32 XPC ERCC8 ERCC5 ERCC4 ERCC1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 10.27 ERCC8 ERCC6 ERCC3 ERCC2 ERCC1
2 cellular response to DNA damage stimulus GO:0006974 10.23 ERCC1 DDB2 DDB1 CUL4A CETN2 BIVM-ERCC5
3 cellular response to UV GO:0034644 10.18 CUL4A DDB1 DDB2 ERCC4
4 base-excision repair GO:0006284 10.14 XRCC1 XPA RPA1 ERCC6
5 response to UV GO:0009411 10.13 ERCC8 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
6 DNA repair GO:0006281 10.13 XRCC1 XPC XPA RPA1 RAD23B POLI
7 embryonic organ development GO:0048568 10.11 RAD23B ERCC3 ERCC1
8 double-strand break repair via nonhomologous end joining GO:0006303 10.1 XRCC1 ERCC4 ERCC1
9 UV-damage excision repair GO:0070914 10.1 XPC XPA ERCC1 DDB2 DDB1
10 response to X-ray GO:0010165 10.08 ERCC8 ERCC6 ERCC1
11 transcription-coupled nucleotide-excision repair GO:0006283 10.07 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8
12 regulation of mitotic cell cycle phase transition GO:1901990 10.03 DDB1 ERCC2 ERCC3 XPC
13 single strand break repair GO:0000012 10.02 XRCC1 ERCC8 ERCC6
14 pyrimidine dimer repair GO:0006290 10 DDB2 ERCC6 POLH
15 UV protection GO:0009650 10 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA
16 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.97 XRCC1 ERCC4 ERCC1
17 error-prone translesion synthesis GO:0042276 9.96 POLI POLH
18 response to UV-C GO:0010225 9.95 POLH ERCC5
19 response to UV-B GO:0010224 9.95 XPC ERCC6
20 telomeric DNA-containing double minutes formation GO:0061819 9.95 XRCC1 ERCC4 ERCC1
21 hair cell differentiation GO:0035315 9.94 ERCC3 ERCC2
22 double-strand break repair via classical nonhomologous end joining GO:0097680 9.94 ERCC8 ERCC6
23 transcription elongation by RNA polymerase I GO:0006362 9.92 ERCC2 ERCC6
24 negative regulation of telomere maintenance GO:0032205 9.92 ERCC1 ERCC4
25 pyrimidine dimer repair by nucleotide-excision repair GO:0000720 9.91 XPC ERCC1
26 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.91 XPA ERCC4
27 obsolete nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.91 ERCC5 ERCC4 ERCC1
28 obsolete nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.77 ERCC5 ERCC4
29 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.76 ERCC3 ERCC2
30 obsolete nucleotide-excision repair, DNA incision GO:0033683 9.76 XPA ERCC3 ERCC2
31 nucleic acid metabolic process GO:0090304 9.73 ERCC5 ERCC2 BIVM-ERCC5
32 nucleotide-excision repair GO:0006289 9.7 BIVM-ERCC5 CETN2 DDB1 DDB2 ERCC1 ERCC2

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-containing complex binding GO:0044877 10.18 DDB1 DDB2 ERCC5 ERCC6 ERCC8 XPC
2 protein C-terminus binding GO:0008022 10.07 ERCC6 ERCC4 ERCC3 ERCC2 ERCC1
3 protein N-terminus binding GO:0047485 10.02 ERCC6 ERCC5 ERCC4 ERCC3 ERCC2
4 promoter-specific chromatin binding GO:1990841 10 ERCC4 ERCC3 ERCC1
5 DNA binding GO:0003677 10 BIVM-ERCC5 DDB1 DDB2 ERCC1 ERCC2 ERCC3
6 single-stranded DNA binding GO:0003697 9.97 XPC RPA1 RAD23B ERCC5 ERCC4 ERCC1
7 TFIID-class transcription factor complex binding GO:0001094 9.84 ERCC4 ERCC1
8 endonuclease activity GO:0004519 9.81 ERCC5 ERCC4 BIVM-ERCC5
9 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.8 ERCC4 ERCC1
10 bubble DNA binding GO:0000405 9.78 XPC ERCC5
11 DNA helicase activity GO:0003678 9.76 ERCC6 ERCC3 ERCC2
12 damaged DNA binding GO:0003684 9.75 XRCC1 XPC XPA RPA1 RAD23B POLI
13 DNA damage sensor activity GO:0140612 9.73 XPC RAD23B
14 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.73 ERCC1 ERCC4 XRCC1
15 nuclease activity GO:0004518 9.72 ERCC5 ERCC4 BIVM-ERCC5

Sources for Xeroderma Pigmentosum, Variant Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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