MCID: RTH001
MIFTS: 57

Rothmund-Thomson Syndrome

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

Aliases & Classifications for Rothmund-Thomson Syndrome

MalaCards integrated aliases for Rothmund-Thomson Syndrome:

Name: Rothmund-Thomson Syndrome 53 12 23 49 24 71 36 28 13 51 69 41 14
Rts 53 12 49 24 71
Poikiloderma Atrophicans and Cataract 53 49 24
Poikiloderma Congenitale 49 24
Congenital Poikiloderma 12 24
Poikiloderma Congenitale of Rothmund-Thomson 24
Poikiloderma of Rothmund-Thomson 49
Erythrokeratodermia Variabilis 69

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
rothmund-thomson syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Rothmund-Thomson Syndrome

NIH Rare Diseases : 49 Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. Signs and symptoms can include a characteristic facial rash (poikiloderma); sparse hair, eyelashes, and/or eyebrows; short stature; skeletal (bone) and dental abnormalities; cataracts; premature aging; and an increased risk for cancer, especially osteosarcoma. Gastrointestinal problems or blood disorders may also occur. It is inherited in an autosomal recessive manner and most often caused by changes (mutations) in the RECQL4 gene. In some cases, the genetic cause is unknown. Treatment focuses on the specific signs and symptoms present and may include laser treatment for skin abnormalities; surgery for cataracts; and standard treatment for cancer. Last updated: 3/10/2016

MalaCards based summary : Rothmund-Thomson Syndrome, also known as rts, is related to poikiloderma with neutropenia and baller-gerold syndrome, and has symptoms including nausea and vomiting, dry skin and hypertelorism. An important gene associated with Rothmund-Thomson Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are DNA Damage and Regulation of Telomerase. The drugs Bone Density Conservation Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

Genetics Home Reference : 24 Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These skin problems persist for life and are collectively known as poikiloderma.

OMIM : 53 Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease (Simon et al., 2010). (268400)

UniProtKB/Swiss-Prot : 71 Rothmund-Thomson syndrome: Characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.

Wikipedia : 72 Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma... more...

GeneReviews: NBK1237

Related Diseases for Rothmund-Thomson Syndrome

Diseases in the Rothmund-Thomson Syndrome family:

Rothmund-Thomson Syndrome Type 1 Rothmund-Thomson Syndrome Type 2

Diseases related to Rothmund-Thomson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 poikiloderma with neutropenia 32.3 RECQL4 USB1
2 baller-gerold syndrome 31.2 RECQL RECQL4 RECQL5 WRN
3 rapadilino syndrome 30.8 HELLS RECQL RECQL4 RECQL5 WRN
4 werner syndrome 28.6 BLM HELLS RECQL RECQL4 RECQL5 WRN
5 bloom syndrome 28.5 BLM HELLS RECQL RECQL4 RECQL5 WRN
6 rothmund-thomson syndrome type 1 12.3
7 rothmund-thomson syndrome type 2 12.3
8 atypical teratoid rhabdoid tumor 11.3
9 rhabdoid tumor predisposition syndrome 1 11.2
10 chromosome 16p13.3 deletion syndrome, proximal 11.2
11 rhabdoid cancer 11.2
12 hereditary acrokeratotic poikiloderma, weary type 10.9
13 osteogenic sarcoma 10.3
14 sarcoma 10.3
15 aging 10.3
16 glomerulonephritis 10.2
17 neutropenia 10.2
18 esophagitis 10.2
19 squamous cell carcinoma 10.2
20 calcinosis 10.2
21 bronchiectasis 10.2
22 dwarfism 10.2
23 fibrosis of extraocular muscles, congenital, 1 10.0
24 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
25 pancreas, annular 10.0
26 ringed hair 10.0
27 anodontia of permanent dentition 10.0
28 enterocolitis 10.0
29 hypoadrenocorticism, familial 10.0
30 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
31 combined immunodeficiency, x-linked 10.0
32 aplastic anemia 10.0
33 c1q deficiency 10.0
34 myelodysplastic syndrome 10.0
35 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
36 autoinflammation with infantile enterocolitis 10.0
37 cohen-gibson syndrome 10.0
38 alopecia 10.0
39 bone fracture 10.0
40 cataract 10.0
41 hydrocephalus 10.0
42 lymphoma 10.0
43 klippel-feil syndrome 10.0
44 nasopharyngitis 10.0
45 hypohidrosis 10.0
46 anhidrosis 10.0
47 allergic hypersensitivity disease 10.0
48 anodontia 10.0
49 melanoma 10.0
50 hypogonadism 10.0

Graphical network of the top 20 diseases related to Rothmund-Thomson Syndrome:



Diseases related to Rothmund-Thomson Syndrome

Symptoms & Phenotypes for Rothmund-Thomson Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
frontal bossing
prognathism

Skeletal:
osteoporosis

Head And Neck Teeth:
microdontia
supernumerary teeth
missing teeth
delayed eruption
multiple crown malformations

Skin Nails Hair Hair:
alopecia
premature graying of hair
sparse hair

Abdomen Gastroin testinal:
anteriorly placed anus

Abdomen Pancreas:
annular pancreas

Skeletal Hands:
hypoplastic thumbs
small hands

Skeletal Spine:
kyphoscoliosis (in some patients)

Skeletal Pelvis:
congenital hip dislocation (rare)

Skin Nails Hair Nails:
atrophic nails

Growth Height:
short stature

Head And Neck Eyes:
strabismus
microphthalmia
glaucoma
microcornea
juvenile zonular cataracts
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hypogonadism

Neoplasia:
squamous cell carcinoma
basal cell carcinoma
osteogenic sarcoma

Skin Nails Hair Skin:
telangiectasia
skin atrophy
sun sensitivity
erythematous skin lesions in infancy
poikiloderma (atrophic plaques with telangiectasia)
more
Skeletal Feet:
club feet
small feet

Head And Neck Nose:
small, saddle nose

Skeletal Limbs:
forearm reduction defects
absence of patella
hypermobile joints (rare)
restricted range of movement in some joints (rare)

Neurologic Central Nervous System:
mental retardation in 5-13%


Clinical features from OMIM:

268400

Human phenotypes related to Rothmund-Thomson Syndrome:

31 (show top 50) (show all 91)
# Description HPO Frequency HPO Source Accession
1 nausea and vomiting 31 occasional (7.5%) HP:0002017
2 dry skin 31 frequent (33%) HP:0000958
3 hypertelorism 31 frequent (33%) HP:0000316
4 frontal bossing 31 frequent (33%) HP:0002007
5 ptosis 31 occasional (7.5%) HP:0000508
6 hypertension 31 occasional (7.5%) HP:0000822
7 osteopenia 31 occasional (7.5%) HP:0000938
8 intellectual disability 31 very rare (1%) HP:0001249
9 scoliosis 31 frequent (33%) HP:0002650
10 mandibular prognathia 31 HP:0000303
11 global developmental delay 31 occasional (7.5%) HP:0001263
12 carious teeth 31 frequent (33%) HP:0000670
13 malabsorption 31 occasional (7.5%) HP:0002024
14 abnormality of the ulna 31 occasional (7.5%) HP:0002997
15 short nose 31 HP:0003196
16 microcephaly 31 frequent (33%) HP:0000252
17 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
18 short stature 31 hallmark (90%) HP:0004322
19 nephropathy 31 occasional (7.5%) HP:0000112
20 osteoporosis 31 HP:0000939
21 abnormality of the nail 31 HP:0001597
22 anemia 31 occasional (7.5%) HP:0001903
23 micrognathia 31 frequent (33%) HP:0000347
24 myelodysplasia 31 occasional (7.5%) HP:0002863
25 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
26 opacification of the corneal stroma 31 frequent (33%) HP:0007759
27 strabismus 31 HP:0000486
28 delayed eruption of teeth 31 HP:0000684
29 short palm 31 HP:0004279
30 joint hyperflexibility 31 frequent (33%) HP:0005692
31 epicanthus 31 frequent (33%) HP:0000286
32 limitation of joint mobility 31 frequent (33%) HP:0001376
33 short foot 31 HP:0001773
34 microdontia 31 HP:0000691
35 cryptorchidism 31 HP:0000028
36 abnormality of the fingernails 31 frequent (33%) HP:0001231
37 alopecia 31 HP:0001596
38 external ear malformation 31 frequent (33%) HP:0008572
39 skin ulcer 31 occasional (7.5%) HP:0200042
40 hypopigmented skin patches 31 hallmark (90%) HP:0001053
41 arthrogryposis multiplex congenita 31 occasional (7.5%) HP:0002804
42 hypogonadism 31 frequent (33%) HP:0000135
43 premature graying of hair 31 occasional (7.5%) HP:0002216
44 short philtrum 31 frequent (33%) HP:0000322
45 microphthalmia 31 HP:0000568
46 deeply set eye 31 frequent (33%) HP:0000490
47 small hand 31 HP:0200055
48 abnormality of the metacarpal bones 31 occasional (7.5%) HP:0001163
49 glaucoma 31 occasional (7.5%) HP:0000501
50 irregular hyperpigmentation 31 hallmark (90%) HP:0007400

UMLS symptoms related to Rothmund-Thomson Syndrome:


exanthema

GenomeRNAi Phenotypes related to Rothmund-Thomson Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 BLM POT1 RECQL RECQL4 RECQL5 WRN

MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.23 BLM CDC45 HELLS POT1 RECQL RECQL4

Drugs & Therapeutics for Rothmund-Thomson Syndrome

Drugs for Rothmund-Thomson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bone Density Conservation Agents
2 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Calcium Absorption in Patients With Rothmund-Thomson Syndrome Unknown status NCT01304407
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Rothmund-Thomson Syndrome

Cochrane evidence based reviews: rothmund-thomson syndrome

Genetic Tests for Rothmund-Thomson Syndrome

Genetic tests related to Rothmund-Thomson Syndrome:

# Genetic test Affiliating Genes
1 Rothmund-Thomson Syndrome 28 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

38
Skin, Bone, Eye, Pancreas, Adrenal Gland, Tongue

Publications for Rothmund-Thomson Syndrome

Articles related to Rothmund-Thomson Syndrome:

(show top 50) (show all 166)
# Title Authors Year
1
Rothmund-Thomson syndrome (RTS) with osteosarcoma due to<i>RECQL4</i>mutation. ( 29367366 )
2018
2
Generalized Metabolic Bone Disease and Fracture Risk in Rothmund-Thomson Syndrome. ( 28486640 )
2017
3
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome. ( 28039508 )
2017
4
Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4. ( 29224249 )
2017
5
Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature. ( 29044077 )
2017
6
Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings. ( 28443301 )
2017
7
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. ( 27287744 )
2016
8
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. ( 27247962 )
2016
9
Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. ( 27307676 )
2016
10
Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature. ( 27463631 )
2016
11
Osteosarcoma in patients with Rothmund-Thomson syndrome. ( 25551679 )
2015
12
Leg ulcer in a patient with Rothmund-Thomson syndrome. ( 26543707 )
2015
13
A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome. ( 26515231 )
2015
14
Rothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype? ( 25751344 )
2015
15
Dental management of Rothmund-Thomson syndrome with partial anodontia. ( 26032705 )
2015
16
Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome. ( 26617641 )
2015
17
Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice. ( 24832598 )
2014
18
Rare skeletal abnormalities in Rothmund-Thomson syndrome: a case report. ( 25311928 )
2014
19
Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature. ( 25441286 )
2014
20
Rothmund-thomson syndrome: a 13-year follow-up. ( 25120469 )
2014
21
Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome. ( 25266359 )
2014
22
Rothmund-Thomson syndrome. ( 25396146 )
2014
23
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. ( 24960165 )
2014
24
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. ( 24518840 )
2014
25
Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome. ( 23001818 )
2013
26
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. ( 24157463 )
2013
27
Clinical utility gene card for: Rothmund-Thomson syndrome. ( 23188052 )
2013
28
The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. ( 23683351 )
2013
29
Oral findings of rothmund-thomson syndrome. ( 24363941 )
2013
30
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. ( 22711845 )
2012
31
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. ( 22039056 )
2012
32
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. ( 22821900 )
2012
33
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome. ( 21418107 )
2011
34
Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis. ( 21951866 )
2011
35
Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome. ( 20860557 )
2010
36
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. ( 20503338 )
2010
37
Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report. ( 20194333 )
2010
38
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. ( 21143835 )
2010
39
Rothmund-Thomson syndrome. ( 20113479 )
2010
40
Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair. ( 20096650 )
2010
41
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. ( 20817924 )
2010
42
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. ( 19299466 )
2009
43
Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. ( 19177149 )
2009
44
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. ( 18504617 )
2008
45
Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. ( 17372760 )
2008
46
Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. ( 18346259 )
2008
47
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. ( 18647888 )
2008
48
Amelanotic melanoma in a patient with Rothmund-Thomson syndrome. ( 18347307 )
2008
49
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. ( 18755177 )
2008
50
Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? ( 18952524 )
2008

Variations for Rothmund-Thomson Syndrome

ClinVar genetic disease variations for Rothmund-Thomson Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833851 GRCh37 Chromosome 8, 145738509: 145738509
2 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh37 Chromosome 8, 145738522: 145738522
3 RECQL4 NM_004260.3(RECQL4): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs794726912 GRCh37 Chromosome 8, 145743087: 145743087
4 RECQL4 NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs) deletion Pathogenic rs746636748 GRCh37 Chromosome 8, 145741454: 145741455
5 RECQL4 NM_004260.3(RECQL4): c.1650_1656delGGCCTGC (p.Ala551Tyrfs) deletion Pathogenic rs786200887 GRCh37 Chromosome 8, 145739874: 145739880
6 RECQL4 NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter) single nucleotide variant Pathogenic rs137853229 GRCh37 Chromosome 8, 145738796: 145738796
7 RECQL4 NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs) deletion Pathogenic rs752729755 GRCh37 Chromosome 8, 145738492: 145738493
8 RECQL4 NM_004260.3(RECQL4): c.2059-1G> T single nucleotide variant Pathogenic rs386833849 GRCh37 Chromosome 8, 145739097: 145739097
9 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic/Likely pathogenic rs386833845 GRCh37 Chromosome 8, 145740367: 145740367
10 RECQL4 NM_004260.3(RECQL4): c.1391-1G> A single nucleotide variant Pathogenic rs117642173 GRCh37 Chromosome 8, 145740627: 145740627
11 RECQL4 NM_004260.3(RECQL4): c.2059-1G> C single nucleotide variant Pathogenic rs386833849 GRCh38 Chromosome 8, 144513713: 144513713
12 RECQL4 NM_004260.3(RECQL4): c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro) deletion Pathogenic rs786200890 GRCh37 Chromosome 8, 145739446: 145739451
13 RECQL4 NM_004260.3(RECQL4): c.1704+1G> A single nucleotide variant Pathogenic rs760363252 GRCh37 Chromosome 8, 145739825: 145739825
14 RECQL4 NM_004260.3(RECQL4): c.1390+1G> T single nucleotide variant Likely pathogenic rs1085307090 GRCh37 Chromosome 8, 145740709: 145740709
15 RECQL4 NM_004260.3(RECQL4): c.1259-1G> A single nucleotide variant Pathogenic rs372380880 GRCh37 Chromosome 8, 145740842: 145740842
16 RECQL4 NM_004260.3(RECQL4): c.1568delG (p.Ser523Thrfs) deletion Pathogenic rs886043102 GRCh37 Chromosome 8, 145740372: 145740372

Expression for Rothmund-Thomson Syndrome

Search GEO for disease gene expression data for Rothmund-Thomson Syndrome.

Pathways for Rothmund-Thomson Syndrome

Pathways related to Rothmund-Thomson Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.57 BLM CDC45 RECQL RECQL4 RECQL5 WRN
2 10.95 BLM POT1 WRN

GO Terms for Rothmund-Thomson Syndrome

Cellular components related to Rothmund-Thomson Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.81 BLM CDC45 HELLS POT1 RECQL RECQL4
2 replication fork GO:0005657 8.96 BLM WRN
3 chromosome, telomeric region GO:0000781 8.92 BLM POT1 RECQL4 WRN

Biological processes related to Rothmund-Thomson Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.8 BLM RECQL RECQL4 RECQL5 WRN
2 DNA replication GO:0006260 9.72 BLM CDC45 RECQL4 RECQL5 WRN
3 DNA recombination GO:0006310 9.65 BLM RECQL RECQL4 RECQL5 WRN
4 telomere maintenance GO:0000723 9.57 RECQL4 WRN
5 base-excision repair GO:0006284 9.56 RECQL4 WRN
6 DNA synthesis involved in DNA repair GO:0000731 9.55 BLM WRN
7 double-strand break repair via homologous recombination GO:0000724 9.55 BLM RECQL RECQL4 RECQL5 WRN
8 DNA metabolic process GO:0006259 9.54 RECQL5 WRN
9 DNA strand renaturation GO:0000733 9.54 BLM RECQL RECQL4
10 replication fork processing GO:0031297 9.52 BLM WRN
11 strand displacement GO:0000732 9.51 BLM WRN
12 cellular metabolic process GO:0044237 9.49 BLM WRN
13 t-circle formation GO:0090656 9.48 BLM WRN
14 G-quadruplex DNA unwinding GO:0044806 9.46 BLM WRN
15 cellular response to camptothecin GO:0072757 9.43 BLM RECQL5
16 telomeric D-loop disassembly GO:0061820 9.26 BLM POT1 RECQL4 WRN
17 DNA duplex unwinding GO:0032508 9.17 BLM CDC45 POT1 RECQL RECQL4 RECQL5

Molecular functions related to Rothmund-Thomson Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.88 BLM RECQL RECQL5 WRN
2 helicase activity GO:0004386 9.8 BLM HELLS RECQL RECQL4 RECQL5 WRN
3 DNA helicase activity GO:0003678 9.73 BLM RECQL RECQL5 WRN
4 ATP-dependent DNA helicase activity GO:0004003 9.67 BLM RECQL WRN
5 annealing helicase activity GO:0036310 9.65 BLM RECQL RECQL4
6 bubble DNA binding GO:0000405 9.63 BLM RECQL4 WRN
7 four-way junction DNA binding GO:0000400 9.58 BLM WRN
8 telomeric G-quadruplex DNA binding GO:0061849 9.58 BLM POT1 WRN
9 telomeric D-loop binding GO:0061821 9.56 BLM POT1 RECQL4 WRN
10 3-5 DNA helicase activity GO:0043138 9.55 CDC45 WRN
11 ATP-dependent helicase activity GO:0008026 9.55 BLM RECQL RECQL4 RECQL5 WRN
12 G-quadruplex DNA binding GO:0051880 9.54 BLM WRN
13 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.54 BLM POT1 WRN
14 Y-form DNA binding GO:0000403 9.52 BLM WRN
15 forked DNA-dependent helicase activity GO:0061749 9.51 BLM WRN
16 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.35 BLM RECQL RECQL4 RECQL5 WRN
17 four-way junction helicase activity GO:0009378 9.02 BLM RECQL RECQL4 RECQL5 WRN
18 hydrolase activity GO:0016787 10.04 BLM HELLS RECQL RECQL5 USB1 WRN
19 ATP binding GO:0005524 10.03 BLM HELLS RECQL RECQL4 RECQL5 WRN

Sources for Rothmund-Thomson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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