PDR
MCID: PGM029
MIFTS: 49

Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked (PDR)

Categories: Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

MalaCards integrated aliases for Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

Name: Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 57 72 29 6
Pdr 57 12 58 72
X-Linked Reticulate Pigmentary Disorder 12 58 15
Xlpdr 57 58 72
X-Linked Reticulate Pigmentary Disorder with Systemic Manifestations 12 36
Pigmentary Disorder, Reticulate, with Systemic Manifestations 44 70
Partington Disease 12 58
Familial Cutaneous Amyloidosis 58
X-Linked Cutaneous Amyloidosis 58
Familial Lichen Amyloidosis 70

Characteristics:

Orphanet epidemiological data:

58
x-linked reticulate pigmentary disorder
Inheritance: X-linked dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset in early childhood
female carriers may have no manifestations or only skin pigmentation changes
males may die early from systemic disease

Inheritance:
x-linked recessive


HPO:

31
pigmentary disorder, reticulate, with systemic manifestations, x-linked:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare systemic and rhumatological diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111834
OMIM® 57 301220
KEGG 36 H02484
ICD10 via Orphanet 33 E85.0+ L99.0*
UMLS via Orphanet 71 C0796250 C1845050
Orphanet 58 ORPHA85453
MedGen 41 C1845050
UMLS 70 C0268398 C1845050

Summaries for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

UniProtKB/Swiss-Prot : 72 Pigmentary disorder, reticulate, with systemic manifestations, X-linked: An X-linked recessive disorder characterized by recurrent infections and sterile inflammation in various organs. Diffuse skin hyperpigmentation with a distinctive reticulate pattern is universally evident by early childhood. This is later followed in many patients by hypohidrosis, corneal inflammation and scarring, enterocolitis that resembles inflammatory bowel disease, and recurrent urethral strictures. Melanin and amyloid deposition is present in the dermis. Affected males also have a characteristic facies with frontally upswept hair and flared eyebrows. Female carriers have only restricted pigmentary changes along Blaschko's lines.

MalaCards based summary : Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked, also known as pdr, is related to microvascular complications of diabetes 1 and malaria, and has symptoms including photophobia and diarrhea. An important gene associated with Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked is POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has material basis in mutation in POLA1 on chromosome Xp22.1-p21.3.

OMIM® : 57 X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016). (301220) (Updated 05-Apr-2021)

KEGG : 36 X-linked reticulate pigmentary disorder with systemic manifestations (XLPDR), previously known as X-linked cutaneous amyloidosis, is a rare syndrome characterized by recurrent infections and sterile multiorgan inflammation. The syndrome is caused by an intronic mutation in POLA1, the gene encoding the catalytic subunit of DNA polymerase alpha.

Wikipedia : 73 X-linked reticulate pigmentary disorder is a rare X-linked genetic condition in which males manifest... more...

Related Diseases for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Diseases related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 microvascular complications of diabetes 1 11.1
2 malaria 10.5
3 microvascular complications of diabetes 5 10.4
4 microvascular complications of diabetes 2 10.4
5 dowling-degos disease 1 10.4
6 cervical cancer 10.3
7 cysticercosis 10.2
8 mouth disease 10.2
9 incontinentia pigmenti 10.2
10 anhidrosis 10.2
11 erythrokeratoderma ''en cocardes'' 10.2
12 rare genetic skin disease 10.2
13 hyperpigmentation of the skin 10.2
14 japanese encephalitis 10.2
15 opisthorchiasis 10.2
16 encephalitis 10.2
17 taeniasis 10.1
18 measles 10.1
19 dengue virus 10.1
20 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 FDXR FDX1
21 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.1 BRCA1 ATM
22 cholangiocarcinoma 10.1
23 tetanus 10.1
24 plasmodium falciparum malaria 10.1
25 intrahepatic cholangiocarcinoma 10.1
26 influenza 10.1
27 cervical adenoma malignum 10.1 BRCA1 ATM
28 mycobacterium tuberculosis 1 10.0
29 chikungunya 10.0
30 epilepsy 10.0
31 hepatitis b 10.0
32 dental caries 10.0
33 leptospirosis 10.0
34 pulmonary fibrosis 10.0
35 diffuse pulmonary fibrosis 10.0
36 synchronous bilateral breast carcinoma 10.0 BRCA1 ATM
37 ophthalmomyiasis 10.0 EXO1 AKR1B1
38 bilateral breast cancer 10.0 RAD51 BRCA1 ATM
39 rothmund-thomson syndrome, type 2 10.0 RAD51 EXO1 ATM
40 deficiency anemia 10.0
41 disease by infectious agent 10.0
42 middle east respiratory syndrome 10.0
43 paragonimiasis 10.0
44 diphtheria 10.0
45 dengue disease 10.0
46 telangiectasis 10.0
47 diarrhea 10.0
48 rectum cancer 10.0
49 glucosephosphate dehydrogenase deficiency 10.0
50 cervix carcinoma 10.0

Graphical network of the top 20 diseases related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:



Diseases related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked

Symptoms & Phenotypes for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Human phenotypes related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 photophobia 31 very rare (1%) HP:0000613
4 hypohidrosis 31 very rare (1%) HP:0000966
5 failure to thrive in infancy 31 very rare (1%) HP:0001531
6 chronic diarrhea 31 very rare (1%) HP:0002028
7 recurrent pneumonia 31 very rare (1%) HP:0006532
8 cutis marmorata 31 very rare (1%) HP:0000965
9 bronchiectasis 31 very rare (1%) HP:0002110
10 corneal scarring 31 very rare (1%) HP:0000559
11 urethral stricture 31 very rare (1%) HP:0012227
12 colitis 31 very rare (1%) HP:0002583
13 reticular hyperpigmentation 31 very rare (1%) HP:0007588
14 broad eyebrow 31 very rare (1%) HP:0011229
15 clubbing 31 very rare (1%) HP:0001217
16 frontal upsweep of hair 31 very rare (1%) HP:0002236
17 hyperkeratosis 31 HP:0000962
18 visual loss 31 HP:0000572
19 generalized reticulate brown pigmentation 31 HP:0007599
20 cutaneous amyloidosis 31 HP:0012309
21 increased circulating interleukin 8 31 HP:0033178
22 reduced circulating interferon gamma 31 HP:0033253

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Skin Nails Hair Skin:
hyperkeratosis
hypohidrosis
hyperpigmentation, reticulate pattern (follows the lines of blaschko in some carrier females)

Respiratory:
respiratory infections, recurrent

Skin Nails Hair Hair:
frontal upsweep

Laboratory Abnormalities:
increased il-8
increased plasma interferon i signature
decreased il-17a
decreased gamma-interferon

Head And Neck Eyes:
photophobia
corneal scarring
flared eyebrows
poor vision

Abdomen Gastrointestinal:
diarrhea
colitis
gastroenteritis

Genitourinary External Genitalia Male:
urethral strictures

Neurologic Central Nervous System:
intellectual disability (in some patients)

Skin Nails Hair Skin Histology:
melanin deposition in basal layer
amyloid deposition

Clinical features from OMIM®:

301220 (Updated 05-Apr-2021)

UMLS symptoms related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:


photophobia; diarrhea

GenomeRNAi Phenotypes related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked according to GeneCards Suite gene sharing:

26 (show top 50) (show all 60)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.86 RPA2
2 Decreased viability GR00221-A-1 10.86 CHEK1 RPA2 XRCC5 XRCC6 EXO1
3 Decreased viability GR00221-A-2 10.86 BRCA1 CHEK1 RPA2 XRCC5 XRCC6
4 Decreased viability GR00221-A-3 10.86 ATM BRCA1 CHEK1 RPA2
5 Decreased viability GR00221-A-4 10.86 ATM CHEK1 EXO1
6 Decreased viability GR00240-S-1 10.86 CHEK1
7 Decreased viability GR00249-S 10.86 CHEK1 XRCC6
8 Decreased viability GR00301-A 10.86 BRCA1 CHEK1
9 Decreased viability GR00381-A-1 10.86 CHEK1
10 Decreased viability GR00386-A-1 10.86 CHEK1 XRCC6
11 Decreased viability GR00402-S-2 10.86 CHEK1 RPA2 XRCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.63 ATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.63 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.63 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.63 CHEK1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.63 ATM CHEK1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.63 AKR1B1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.63 AKR1B1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.63 AKR1B1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.63 CHEK1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.63 BRCA1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.63 AKR1B1 ATM BRCA1 CHEK1 PQBP1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.63 AKR1B1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.63 CHEK1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.63 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.63 ATM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.63 ATM PQBP1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.63 ATM
29 Increased shRNA abundance (Z-score > 2) GR00366-A-160 10.63 ATM
30 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.63 PQBP1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-167 10.63 AKR1B1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.63 BRCA1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-179 10.63 CHEK1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.63 CHEK1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.63 PQBP1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.63 AKR1B1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.63 BRCA1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.63 BRCA1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.63 PQBP1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.63 CHEK1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.63 PQBP1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.63 ATM
43 Increased shRNA abundance (Z-score > 2) GR00366-A-53 10.63 AKR1B1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-55 10.63 PQBP1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.63 CHEK1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.63 AKR1B1 CHEK1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.63 ATM
48 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.63 ATM
49 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.63 ATM CHEK1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.63 PQBP1

MGI Mouse Phenotypes related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 ADCY10 ARX ATM BRCA1 CHEK1 EXO1
2 neoplasm MP:0002006 9.56 ATM BRCA1 CHEK1 EXO1 RBBP8 TP53BP1
3 reproductive system MP:0005389 9.28 ADCY10 ARX ATM BRCA1 CHEK1 EXO1

Drugs & Therapeutics for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Search Clinical Trials , NIH Clinical Center for Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked

Cochrane evidence based reviews: pigmentary disorder, reticulate, with systemic manifestations

Genetic Tests for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Genetic tests related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

# Genetic test Affiliating Genes
1 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 29 POLA1

Anatomical Context for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

MalaCards organs/tissues related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

40
Eye, Skin

Publications for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Articles related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

# Title Authors PMID Year
1
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. 57 6 61
27019227 2016
2
X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review. 57
15804299 2005
3
X-linked reticulate pigmentary layer. Report of a new patient and demonstration of a skewed X-inactivation. 57
15844784 2005
4
Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis. 57
7977467 1994
5
An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family. 57
8302737 1993
6
X-linked cutaneous amyloidosis: further clinical and pathological observations. 57
2705473 1989
7
Familial cutaneous amyloidosis with systemic manifestations in males. 57
6794369 1981
8
Immune Dysfunction in Mendelian Disorders of POLA1 Deficiency. 61
33392852 2021
9
NK cell defects in X-linked pigmentary reticulate disorder. 61
31672938 2019
10
X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature. 61
23613254 2013

Variations for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

ClinVar genetic disease variations for Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLA1 NM_001330360.2(POLA1):c.1393-354A>G SNV Pathogenic 224980 rs869312979 GRCh37: X:24744696-24744696
GRCh38: X:24726579-24726579
2 POLA1 NM_001330360.2(POLA1):c.3469del (p.Ser1157fs) Deletion Pathogenic 1031977 GRCh37: X:24839602-24839602
GRCh38: X:24821485-24821485
3 POLA1 NM_016937.4(POLA1):c.394A>G (p.Asn132Asp) SNV Uncertain significance 523007 rs1555973963 GRCh37: X:24732736-24732736
GRCh38: X:24714619-24714619
4 POLA1 NM_016937.4(POLA1):c.3604G>C (p.Asp1202His) SNV Uncertain significance 587618 rs41548013 GRCh37: X:24844604-24844604
GRCh38: X:24826487-24826487

Expression for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Search GEO for disease gene expression data for Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked.

Pathways for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Pathways related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 TP53BP1 RPA2 RBBP8 RAD51 POLA1 EXO1
2
Show member pathways
13.02 XRCC6 XRCC5 TP53BP1 RPA2 RBBP8 RAD51
3
Show member pathways
12.89 RPA2 RBBP8 EXO1 CHEK1 BRCA1 ATM
4
Show member pathways
12.57 TP53BP1 RPA2 RBBP8 EXO1 CHEK1 BRCA1
5
Show member pathways
12.47 XRCC6 XRCC5 RPA2 RAD51 POLA1 CHEK1
6
Show member pathways
12.42 RPA2 RBBP8 RAD51 BRCA1 ATM
7
Show member pathways
12.31 RPA2 RAD51 CHEK1 BRCA1 ATM
8
Show member pathways
12.28 XRCC6 XRCC5 TP53BP1 BRCA1 ATM
9 12.08 XRCC6 XRCC5 TP53BP1 RPA2 RBBP8 RAD51
10 12.06 RAD51 CHEK1 BRCA1 ATM
11
Show member pathways
12.02 RPA2 RBBP8 RAD51 EXO1 BRCA1 ATM
12
Show member pathways
12 RPA2 RBBP8 RAD51 EXO1 CHEK1 BRCA1
13
Show member pathways
11.79 RPA2 POLA1 EXO1
14 11.78 RPA2 RAD51 BRCA1
15
Show member pathways
11.77 TP53BP1 RAD51 CHEK1 BRCA1 ATM
16 11.75 RPA2 POLA1 CHEK1
17
Show member pathways
11.72 RBBP8 RAD51 CHEK1 BRCA1 ATM
18
Show member pathways
11.7 FDXR FDX1 AKR1B1
19 11.66 RBBP8 POLA1 BRCA1 ATM
20 11.61 XRCC6 XRCC5 ATM
21 11.6 CHEK1 BRCA1 ATM
22 11.53 XRCC6 XRCC5 BRCA1
23 11.44 TP53BP1 RBBP8 CHEK1 ATM
24 11.42 CHEK1 BRCA1 ATM
25 11.39 CHEK1 BRCA1 ATM
26 11.1 XRCC6 XRCC5 BRCA1
27 10.92 BRCA1 ATM
28 10.57 FDXR FDX1
29 10.56 XRCC6 XRCC5 RBBP8 RAD51 BRCA1 ATM

GO Terms for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

Cellular components related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.22 XRCC6 XRCC5 TP53BP1 STN1 RPA2 RBBP8
2 nuclear body GO:0016604 9.83 TP53BP1 RPA2 PQBP1 EXO1 BRCA1
3 nucleoplasm GO:0005654 9.83 XRCC6 XRCC5 TP53BP1 STN1 RPA2 RBBP8
4 chromosome GO:0005694 9.76 XRCC6 XRCC5 TP53BP1 STN1 RBBP8 RAD51
5 condensed nuclear chromosome GO:0000794 9.58 RAD51 CHEK1 BRCA1
6 site of double-strand break GO:0035861 9.56 TP53BP1 RPA2 RBBP8 RAD51
7 lateral element GO:0000800 9.51 RAD51 BRCA1
8 nuclear telomere cap complex GO:0000783 9.49 XRCC6 XRCC5
9 nonhomologous end joining complex GO:0070419 9.48 XRCC6 XRCC5
10 DNA repair complex GO:1990391 9.46 TP53BP1 ATM
11 Ku70:Ku80 complex GO:0043564 9.37 XRCC6 XRCC5
12 chromosome, telomeric region GO:0000781 9.23 XRCC6 XRCC5 TP53BP1 STN1 RPA2 RAD51

Biological processes related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 regulation of signal transduction by p53 class mediator GO:1901796 9.91 RPA2 RBBP8 EXO1 CHEK1 BRCA1 ATM
2 double-strand break repair via homologous recombination GO:0000724 9.88 RPA2 RBBP8 RAD51 BRCA1 ATM
3 DNA recombination GO:0006310 9.85 XRCC6 XRCC5 RPA2 RAD51 EXO1 BRCA1
4 response to ionizing radiation GO:0010212 9.83 RAD51 MRNIP BRCA1 ATM
5 meiotic cell cycle GO:0051321 9.82 RBBP8 RAD51 EXO1
6 G1/S transition of mitotic cell cycle GO:0000082 9.81 RPA2 RBBP8 POLA1
7 negative regulation of G0 to G1 transition GO:0070317 9.81 RBBP8 RAD51 CHEK1 BRCA1
8 cellular response to gamma radiation GO:0071480 9.8 XRCC6 XRCC5 RAD51 ATM
9 telomere maintenance GO:0000723 9.8 XRCC6 XRCC5 STN1 RPA2 ATM
10 DNA replication GO:0006260 9.8 RPA2 RBBP8 POLA1 EXO1 CHEK1 BRCA1
11 positive regulation of protein kinase activity GO:0045860 9.77 XRCC6 XRCC5 MRNIP
12 positive regulation of type I interferon production GO:0032481 9.76 XRCC6 XRCC5 PQBP1
13 DNA damage checkpoint GO:0000077 9.75 TP53BP1 CHEK1 ATM
14 activation of innate immune response GO:0002218 9.74 XRCC6 XRCC5 PQBP1
15 regulation of double-strand break repair via homologous recombination GO:0010569 9.73 RPA2 RAD51 CHEK1
16 DNA double-strand break processing GO:0000729 9.72 RBBP8 BRCA1 ATM
17 C21-steroid hormone biosynthetic process GO:0006700 9.71 FDXR FDX1 AKR1B1
18 cellular response to DNA damage stimulus GO:0006974 9.7 XRCC6 XRCC5 TP53BP1 RPA2 RBBP8 RAD51
19 replicative senescence GO:0090399 9.64 CHEK1 ATM
20 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.63 CHEK1 BRCA1
21 regulation of smooth muscle cell proliferation GO:0048660 9.63 XRCC6 XRCC5
22 cellular hyperosmotic salinity response GO:0071475 9.63 XRCC6 XRCC5 AKR1B1
23 double-strand break repair via nonhomologous end joining GO:0006303 9.63 XRCC6 XRCC5 TP53BP1 POLA1 BRCA1 ATM
24 telomere maintenance via telomere lengthening GO:0010833 9.62 STN1 RAD51
25 establishment of integrated proviral latency GO:0075713 9.62 XRCC6 XRCC5
26 cellular response to X-ray GO:0071481 9.62 XRCC6 XRCC5 TP53BP1 ATM
27 chromosome organization involved in meiotic cell cycle GO:0070192 9.61 RAD51 ATM
28 DNA damage induced protein phosphorylation GO:0006975 9.61 CHEK1 ATM
29 mitotic G2/M transition checkpoint GO:0044818 9.59 CHEK1 BRCA1
30 DNA repair GO:0006281 9.4 XRCC6 XRCC5 TP53BP1 RPA2 RBBP8 RAD51

Molecular functions related to Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.85 RAD51 POLA1 MRNIP EXO1 ARX
2 DNA binding GO:0003677 9.77 XRCC6 XRCC5 TP53BP1 STN1 RPA2 RBBP8
3 double-stranded DNA binding GO:0003690 9.72 XRCC6 XRCC5 RBBP8 RAD51 PQBP1
4 single-stranded DNA binding GO:0003697 9.65 STN1 RPA2 RBBP8 RAD51 POLA1
5 DNA-dependent ATPase activity GO:0008094 9.58 XRCC6 XRCC5 RAD51
6 double-stranded telomeric DNA binding GO:0003691 9.48 XRCC6 XRCC5
7 telomeric DNA binding GO:0042162 9.46 XRCC6 XRCC5 TP53BP1 STN1
8 5'-deoxyribose-5-phosphate lyase activity GO:0051575 9.43 XRCC6 XRCC5
9 DNA end binding GO:0045027 9.37 XRCC6 XRCC5
10 damaged DNA binding GO:0003684 9.1 XRCC6 XRCC5 TP53BP1 RPA2 RBBP8 BRCA1

Sources for Pigmentary Disorder, Reticulate, with Systemic Manifestations,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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