MCID: RTH001
MIFTS: 57

Rothmund-Thomson Syndrome malady

Genetic diseases, Rare diseases, Skin diseases, Eye diseases, Fetal diseases, Cancer diseases categories

Aliases & Classifications for Rothmund-Thomson Syndrome

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Aliases & Descriptions for Rothmund-Thomson Syndrome:

Name: Rothmund-Thomson Syndrome 49 10 11 21 23 47 12 65 36 67
Rothmund Thomson Syndrome 45 22 24
Rts 10 23 67
Poikiloderma Atrophicans and Cataract 45 23
Poikiloderma Congenitale 45 23
 
Congenital Poikiloderma 10 23
Poikiloderma Congenitale of Rothmund-Thomson 23
Poikiloderma of Rothmund-Thomson 45
Erythrokeratodermia Variabilis 65


Classifications:



External Ids:

OMIM49 268400
Disease Ontology10 DOID:2732
MeSH36 D011038
NCIt42 C3335
MedGen34 C0032339

Summaries for Rothmund-Thomson Syndrome

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OMIM:49 Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper-... (268400) more...

MalaCards based summary: Rothmund-Thomson Syndrome, also known as rothmund thomson syndrome, is related to baller-gerold syndrome and werner syndrome, and has symptoms including cutis marmorata, cutaneous photosensitivity and poikiloderma. An important gene associated with Rothmund-Thomson Syndrome is RECQL4 (RecQ Helicase-Like 4), and among its related pathways are Regulation of Telomerase and DNA Damage. Affiliated tissues include skin, bone and eye, and related mouse phenotype cellular.

NIH Rare Diseases:45 Rothmund thomson syndrome is a genetic condition that affects many parts of the body. it is characterized by distinctive abnormalities of the skin; sparse hair, eyelashes and/or eyebrows; small stature; skeletal and dental abnormalities; and an increased risk of developing osteosarcoma, a cancer of the bone. rothmund thomson syndrome is inherited in an autosomal recessive pattern. mutations in the recql4 gene cause about two-thirds of all cases. in the other one-third of cases, the cause is unknown. last updated: 1/25/2012

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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.

GeneReviews summary for rts

Related Diseases for Rothmund-Thomson Syndrome

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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 747)
idRelated DiseaseScoreTop Affiliating Genes
1baller-gerold syndrome29.8RECQL, RECQL4, RECQL5, WRN
2werner syndrome29.6BLM, HELLS, RECQL, RECQL4, RECQL5, WRN
3breast cancer10.7
4leukemia10.7
5sarcoma10.6
6poikiloderma with neutropenia10.6
7rothmund-thomson syndrome type 110.6
8rothmund-thomson syndrome type 210.6
9prostate cancer10.5
10colorectal cancer10.5
11prostatitis10.5
12lung cancer10.5
13adenocarcinoma10.5
14glomerulonephritis10.5
15neutropenia10.5
16bronchiectasis10.5
17calcinosis10.5
18esophagitis10.5
19dwarfism10.5
20anorchia10.5
21hepatitis10.4
22gastric cancer10.4
23radiation induced cancer10.4
24tongue squamous cell carcinoma10.4
25nervous system cancer10.4
26thyroiditis10.4
27malaria10.4
28squamous cell carcinoma, head and neck10.4
29cervical squamous cell carcinoma10.4
30myeloid leukemia10.4
31gastrointestinal system cancer10.4
32hepatocellular carcinoma10.4
33thoracic cancer10.4
34neuroectodermal tumor10.4
35ewing sarcoma10.4
36brain cancer10.4
37peritonitis10.4
38glioblastoma10.4
39cerebrovascular disease10.3
40embryonal cancer10.3
41scleroderma10.3
42linear scleroderma10.3
43small cell carcinoma10.3
44spondylosis10.3
45hepatitis a10.3
46germ cell and embryonal cancer10.3
47germ cell cancer10.3
48rhabdoid tumor10.3
49c1q deficiency10.3
50myelodysplastic syndrome10.3

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



Diseases related to rothmund-thomson syndrome

Symptoms for Rothmund-Thomson Syndrome

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Symptoms by clinical synopsis from OMIM:

268400

Clinical features from OMIM:

268400

HPO human phenotypes related to Rothmund-Thomson Syndrome:

(show all 101)
id Description Frequency HPO Source Accession
1 cutis marmorata hallmark (90%) HP:0000965
2 cutaneous photosensitivity hallmark (90%) HP:0000992
3 poikiloderma hallmark (90%) HP:0001029
4 hypopigmented skin patches hallmark (90%) HP:0001053
5 short stature hallmark (90%) HP:0004322
6 irregular hyperpigmentation hallmark (90%) HP:0007400
7 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
8 abnormal blistering of the skin hallmark (90%) HP:0008066
9 abnormal hair quantity hallmark (90%) HP:0011362
10 abnormality of the genital system typical (50%) HP:0000078
11 microcephaly typical (50%) HP:0000252
12 epicanthus typical (50%) HP:0000286
13 hypertelorism typical (50%) HP:0000316
14 short philtrum typical (50%) HP:0000322
15 micrognathia typical (50%) HP:0000347
16 deeply set eye typical (50%) HP:0000490
17 cataract typical (50%) HP:0000518
18 carious teeth typical (50%) HP:0000670
19 dry skin typical (50%) HP:0000958
20 hyperkeratosis typical (50%) HP:0000962
21 abnormality of the fingernails typical (50%) HP:0001231
22 joint dislocation typical (50%) HP:0001373
23 limitation of joint mobility typical (50%) HP:0001376
24 joint hypermobility typical (50%) HP:0001382
25 frontal bossing typical (50%) HP:0002007
26 scoliosis typical (50%) HP:0002650
27 abnormality of the hip bone typical (50%) HP:0003272
28 opacification of the corneal stroma typical (50%) HP:0007759
29 external ear malformation typical (50%) HP:0008572
30 sarcoma typical (50%) HP:0100242
31 cognitive impairment typical (50%) HP:0100543
32 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
33 skin ulcer typical (50%) HP:0200042
34 nephropathy occasional (7.5%) HP:0000112
35 oral cleft occasional (7.5%) HP:0000202
36 sensorineural hearing impairment occasional (7.5%) HP:0000407
37 glaucoma occasional (7.5%) HP:0000501
38 ptosis occasional (7.5%) HP:0000508
39 hypertension occasional (7.5%) HP:0000822
40 abnormality of the adrenal glands occasional (7.5%) HP:0000834
41 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
42 craniosynostosis occasional (7.5%) HP:0001363
43 abnormality of neutrophils occasional (7.5%) HP:0001874
44 anemia occasional (7.5%) HP:0001903
45 nausea and vomiting occasional (7.5%) HP:0002017
46 pyloric stenosis occasional (7.5%) HP:0002021
47 malabsorption occasional (7.5%) HP:0002024
48 abnormality of the bronchi occasional (7.5%) HP:0002109
49 premature graying of hair occasional (7.5%) HP:0002216
50 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
51 myelodysplasia occasional (7.5%) HP:0002863
52 abnormality of the ulna occasional (7.5%) HP:0002997
53 reduced bone mineral density occasional (7.5%) HP:0004349
54 abnormality of the sacrum occasional (7.5%) HP:0005107
55 patellar aplasia occasional (7.5%) HP:0006443
56 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
57 neoplasm of the stomach occasional (7.5%) HP:0006753
58 neoplasm of the skin occasional (7.5%) HP:0008069
59 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
60 reduced number of teeth occasional (7.5%) HP:0009804
61 abnormal immunoglobulin level occasional (7.5%) HP:0010701
62 decreased corneal thickness occasional (7.5%) HP:0100689
63 intellectual disability rare (5%) HP:0001249
64 congenital hip dislocation rare (5%) HP:0001374
65 kyphoscoliosis rare (5%) HP:0002751
66 autosomal recessive inheritance HP:0000007
67 cryptorchidism HP:0000028
68 hypogonadism HP:0000135
69 mandibular prognathia HP:0000303
70 microcornea HP:0000482
71 strabismus HP:0000486
72 glaucoma HP:0000501
73 microphthalmos HP:0000568
74 delayed eruption of teeth HP:0000684
75 microdontia HP:0000691
76 osteoporosis HP:0000939
77 cutaneous photosensitivity HP:0000992
78 telangiectasia HP:0001009
79 poikiloderma HP:0001029
80 anteriorly placed anus HP:0001545
81 alopecia HP:0001596
82 abnormality of the nail HP:0001597
83 annular pancreas HP:0001734
84 talipes equinovarus HP:0001762
85 short foot HP:0001773
86 frontal bossing HP:0002007
87 premature graying of hair HP:0002216
88 osteosarcoma HP:0002669
89 basal cell carcinoma HP:0002671
90 squamous cell carcinoma HP:0002860
91 short nose HP:0003196
92 short palm HP:0004279
93 short stature HP:0004322
94 dermal atrophy HP:0004334
95 agenesis of permanent teeth HP:0006349
96 forearm reduction defects HP:0006368
97 juvenile zonular cataracts HP:0007713
98 sparse hair HP:0008070
99 short thumb HP:0009778
100 increased number of teeth HP:0011069
101 small hand HP:0200055

Drugs & Therapeutics for Rothmund-Thomson Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Oxandroloneapproved, investigationalPhase 11553-39-45878
Synonyms:
(1S,3aS,3bR,5aS,9aS,9bS,11aS)-1-hydroxy-1,9a,11a-trimethyl-2,3,3a,3b,4,5,5a,6,9,9b,10,11-dodecahydroindeno[4,5-h]isochromen-7-one
(4aS,4bS,6aS,7S,9aS,9bR,11aS)-7-hydroxy-4a,6a,7-trimethyltetradecahydroindeno[4,5-h]isochromen-2(1H)-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one (9CI)
17beta-Hydroxy-17-methyl-2-oxa-5alpha-androstan-3-one
17beta-Hydroxy-17alpha-methyl-2-oxa-5alpha-androstan-3-one
2-Oxa-5alpha-androstan-3-one, 17beta-hydroxy-17-methyl- (8CI)
2-Oxaandrostan-3-one, 17-hydroxy-17-methyl-, (5-alpha,17-beta)- (9CI)
53-39-4
8075 C. B
8075 C. B.
8075 C.B
8075 C.B.
8075 CB
AC-14975
AC1L1LBY
Ambap53-39-4
Anavar
C07346
C19H30O3
CHEBI:7820
CHEMBL1200436
CID5878
D00462
DB00621
Dodecahydro-3-hydroxy-6-(hydroxy-methyl)-3,3a,6-trimethyl-1H-benz(e)indene-7-acetic acid delta-lactone
EINECS 200-172-9
 
HSDB 3373
LS-98540
Lonavar
MolPort-003-986-935
NSC 67068
OXANDROLONE
Ossandrolone
Ossandrolone [DCIT]
Oxandrin
Oxandrin (TN)
Oxandrin, Anavar, Oxandrolone
Oxandrolon
Oxandrolona
Oxandrolona [INN-Spanish]
Oxandrolone
Oxandrolone (JAN/USP/INN)
Oxandrolone [USAN:INN:BAN:JAN]
Oxandrolonum
Oxandrolonum [INN-Latin]
Protivar
Provitar
S1753_Selleck
SC 11585
SC-11585
TL8003512
UNII-7H6TM3CT4L
Vasorome
ZINC03813047
2Calcium, Dietary3529

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in InfantsRecruitingNCT01048632Phase 1
2Calcium Absorption in Patients With Rothmund-Thomson SyndromeEnrolling by invitationNCT01304407

Search NIH Clinical Center for Rothmund-Thomson Syndrome


Cochrane evidence based reviews: Rothmund-Thomson Syndrome

Genetic Tests for Rothmund-Thomson Syndrome

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Genetic tests related to Rothmund-Thomson Syndrome:

id Genetic test Affiliating Genes
1 Rothmund-Thomson Syndrome22 24 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

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MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

33
Skin, Bone, Eye, Pancreas, Neutrophil, Adrenal gland, Tongue

Animal Models for Rothmund-Thomson Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053846.6BLM, CDC45, HELLS, RECQL, RECQL4, RECQL5

Publications for Rothmund-Thomson Syndrome

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Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 154)
idTitleAuthorsYear
1
Rothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype? (25751344)
2015
2
Leg ulcer in a patient with Rothmund-Thomson syndrome. (26543707)
2015
3
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. (24960165)
2014
4
Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome. (25266359)
2014
5
Rothmund-thomson syndrome: a 13-year follow-up. (25120469)
2014
6
Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature. (25441286)
2014
7
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. (24157463)
2013
8
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
9
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. (20503338)
2010
10
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (19299466)
2009
11
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. (18755177)
2008
12
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. (18504617)
2008
13
Short root anomaly associated with Rothmund-Thomson syndrome. (17178481)
2007
14
Late-onset Rothmund-Thomson syndrome. (17472679)
2007
15
Rothmund-thomson syndrome: more than just a cosmetic concern. (17686357)
2007
16
Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease. (16998609)
2006
17
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. (16214424)
2006
18
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. (15703196)
2005
19
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
20
Infantile glaucoma in a patient with Rothmund-Thomson syndrome. (15559657)
2004
21
Rothmund-Thomson syndrome in a young man without cataract involvement. (16201731)
2004
22
Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases]. (11979727)
2002
23
Variable presentation of Rothmund-Thomson syndrome. (11102924)
2000
24
Overlap between Baller-Gerold and Rothmund-Thomson syndrome. (11045594)
2000
25
Corneal subepithelial nodular scarring treated with phototherapeutic keratectomy in a child with Rothmund-Thomson syndrome. (10632020)
2000
26
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
27
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. (9679749)
1998
28
Photosensitivity and the Rothmund-Thomson syndrome. (9990387)
1998
29
Increased susceptibility to apoptosis induced by anti-Fas antibody in a Rothmund-Thomson syndrome lymphoblastoid cell line. (9625528)
1998
30
Treatment of the cutaneous vascular component of the Rothmund-Thomson syndrome. (9122083)
1996
31
Rothmund-Thomson syndrome and osteosarcoma. (8614379)
1996
32
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. (8950673)
1996
33
Rothmund-Thomson syndrome and malignant fibrous histiocytoma: a case report. (7703036)
1995
34
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. (7966195)
1994
35
Rothmund-Thomson syndrome with osteosarcoma. (8436644)
1993
36
Rothmund-Thomson syndrome associated with annular pancreas and duodenal stenosis: a case report. (8346112)
1993
37
A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. (8447670)
1993
38
Rothmund-Thomson Syndrome (20301415)
1993
39
Rothmund-Thomson syndrome: review of the world literature. (1430398)
1992
40
"Isolated" radial ray defect may be due to Rothmund-Thomson syndrome. (2268978)
1990
41
"New" syndrome with telangiectasia, dwarfism, and spondyloepiphyseal dysplasia may be Rothmund-Thomson syndrome. (2343014)
1990
42
The poikiloderma of Rothmund-Thomson syndrome: changes in Langerhans cell morphology and distribution. (2533569)
1989
43
Rothmund-Thomson syndrome: a case report. (2616389)
1989
44
Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome). (3676086)
1987
45
Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome. (7029321)
1981
46
Osteosarcoma in a boy with Rothmund-Thomson syndrome. (6932639)
1980
47
Rothmund-Thomson syndrome: a case report. (7447817)
1980
48
Rothmund-Thomson syndrome: an oculocutaneous disorder. (5902033)
1966
49
Rothmund-Thomson syndrome. (5841581)
1965
50
Poikiloderma congenitale; Rothmund-Thomson syndrome. (14438710)
1959

Variations for Rothmund-Thomson Syndrome

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Clinvar genetic disease variations for Rothmund-Thomson Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.82C> T (p.Gln28Ter)single nucleotide variantPathogenicrs794726912GRCh38Chr 8, 144517703: 144517703
2RECQL4NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs)deletionPathogenicrs746636748GRCh38Chr 8, 144516070: 144516071
3RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
4RECQL4NM_004260.3(RECQL4): c.1650_1656delGGCCTGC (p.Ala551Tyrfs)deletionPathogenicrs786200887GRCh37Chr 8, 145739874: 145739880
5RECQL4NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)single nucleotide variantPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796
6RECQL4NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs)deletionPathogenicrs752729755GRCh37Chr 8, 145738492: 145738493
7RECQL4NM_004260.3(RECQL4): c.2059-1G> Tsingle nucleotide variantPathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
8RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
9RECQL4NM_004260.3(RECQL4): c.1391-1G> Asingle nucleotide variantPathogenicrs117642173GRCh37Chr 8, 145740627: 145740627
10RECQL4NM_004260.3(RECQL4): c.2059-1G> Csingle nucleotide variantPathogenicrs386833849GRCh38Chr 8, 144513713: 144513713
11RECQL4NM_004260.3(RECQL4): c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro)deletionPathogenicrs786200890GRCh37Chr 8, 145739446: 145739451
12RECQL4NM_004260.3(RECQL4): c.1704+1G> Asingle nucleotide variantPathogenicrs760363252GRCh37Chr 8, 145739825: 145739825
13RECQL4NM_004260.3(RECQL4): c.2464-1G> Csingle nucleotide variantPathogenicrs398124117GRCh37Chr 8, 145738522: 145738522

Cosmic variations for Rothmund-Thomson Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1584NRASskin,lower leg,benign melanocytic nevus,congenital1

Expression for genes affiliated with Rothmund-Thomson Syndrome

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

Pathways for genes affiliated with Rothmund-Thomson Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6BLM, WRN
27.5BLM, CDC45, RECQL, RECQL4, RECQL5, WRN

GO Terms for genes affiliated with Rothmund-Thomson Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.6BLM, CDC45, HELLS, RECQL, RECQL4, RECQL5

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1replication fork processingGO:003129710.0BLM, WRN
2DNA strand renaturationGO:00007339.8BLM, RECQL, RECQL4
3double-strand break repair via synthesis-dependent strand annealingGO:00450039.6BLM, WRN
4DNA metabolic processGO:00062599.4RECQL5, WRN
5DNA recombinationGO:00063108.7BLM, RECQL, RECQL4, RECQL5, WRN
6DNA repairGO:00062818.0BLM, RECQL, RECQL4, RECQL5, WRN
7DNA duplex unwindingGO:00325087.5BLM, CDC45, RECQL, RECQL4, RECQL5, WRN
8DNA replicationGO:00062607.4BLM, CDC45, RECQL, RECQL4, RECQL5, WRN

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1four-way junction helicase activityGO:000937810.2BLM, WRN
2G-quadruplex DNA bindingGO:005188010.2BLM, WRN
3annealing helicase activityGO:003631010.0BLM, RECQL, RECQL4
4bubble DNA bindingGO:00004059.9BLM, RECQL4, WRN
53-5 DNA helicase activityGO:00431389.9CDC45, WRN
6ATP-dependent DNA helicase activityGO:00040039.7BLM, RECQL, WRN
7single-stranded DNA bindingGO:00036979.6BLM, CDC45
8ATP-dependent 3-5 DNA helicase activityGO:00431409.5BLM, RECQL, RECQL4, WRN
9helicase activityGO:00043869.3BLM, HELLS, WRN
10DNA helicase activityGO:00036789.3RECQL, RECQL5, WRN
11ATP-dependent helicase activityGO:00080268.6BLM, RECQL, RECQL4, RECQL5, WRN
12nucleic acid bindingGO:00036768.6BLM, RECQL, RECQL4, RECQL5, WRN
13ATP bindingGO:00055247.8BLM, HELLS, RECQL, RECQL4, RECQL5, WRN

Sources for Rothmund-Thomson Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet