MCID: RTH001
MIFTS: 57

Rothmund-Thomson Syndrome malady

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

Aliases & Classifications for Rothmund-Thomson Syndrome

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Aliases & Descriptions for Rothmund-Thomson Syndrome:

Name: Rothmund-Thomson Syndrome 51 11 23 47 24 25 69 26 12 49 38 13 67
Rts 11 47 25 69
Poikiloderma Atrophicans and Cataract 47 25
Poikiloderma Congenitale 47 25
 
Congenital Poikiloderma 11 25
Poikiloderma Congenitale of Rothmund-Thomson 25
Poikiloderma of Rothmund-Thomson 47
Erythrokeratodermia Variabilis 67

Characteristics:

HPO:

63
rothmund-thomson syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 268400
Disease Ontology11 DOID:2732
ICD1029 Q82.8
MeSH38 D011038
NCIt44 C3335
MedGen36 C0032339

Summaries for Rothmund-Thomson Syndrome

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NIH Rare Diseases:47 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 baller-gerold syndrome and rothmund-thomson syndrome type 1, and has symptoms including cutis marmorata, cutaneous photosensitivity and poikiloderma. An important gene associated with Rothmund-Thomson Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways are Gap junction trafficking and Regulation of Telomerase. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are craniofacial and integument.

Genetics Home Reference:25 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:51 Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper-... (268400) more...

UniProtKB/Swiss-Prot:69 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:70 Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma... more...

GeneReviews for NBK1237

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 65)
idRelated DiseaseScoreTop Affiliating Genes
1baller-gerold syndrome31.8HELLS, RECQL, RECQL4, RECQL5, WRN
2rothmund-thomson syndrome type 112.2
3rothmund-thomson syndrome type 212.2
4atypical teratoid rhabdoid tumor11.7
5rubinstein-taybi syndrome11.6
6poikiloderma with neutropenia11.6
7kindler syndrome11.0
8rett syndrome10.9
9hereditary acrokeratotic poikiloderma, weary type10.8
10rhabdoid tumors, somatic10.8
11sarcoma10.3
12breast cancer10.2
13leukemia10.2
14werner syndrome10.1
15glomerulonephritis10.1
16neutropenia10.1
17esophagitis10.1
18calcinosis10.1
19bronchiectasis10.1
20dwarfism10.1
21prostatitis10.1
22non-hypoproteinemic hypertrophic gastropathy10.1GJB3, GJB4
23punctate palmoplantar keratoderma type 210.0GJB3, GJB4
24spastic paraplegia 50, autosomal recessive10.0GJB3, GJB4
25colorectal cancer10.0
26prostate cancer10.0
27myeloid leukemia10.0
28c1q deficiency10.0
29myelodysplastic syndrome10.0
30aplastic anemia10.0
31bloom syndrome10.0
32alopecia10.0
33bone fracture10.0
34cataract10.0
35hydrocephalus10.0
36lymphoma10.0
37klippel-feil syndrome10.0
38nasopharyngitis10.0
39hypohidrosis10.0
40anhidrosis10.0
41anodontia10.0
42hypogonadism10.0
43dyskeratosis congenita10.0
44porokeratosis10.0
45histiocytoma10.0
46amelanotic melanoma10.0
47fibrous histiocytoma10.0
48pancreatitis10.0
49adenoma10.0
50parathyroid adenoma10.0

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

Human phenotypes related to Rothmund-Thomson Syndrome:

 63 (show all 94)
id Description HPO Frequency HPO Source Accession
1 cutis marmorata63 hallmark (90%) HP:0000965
2 cutaneous photosensitivity63 hallmark (90%) HP:0000992
3 poikiloderma63 hallmark (90%) HP:0001029
4 hypopigmented skin patches63 hallmark (90%) HP:0001053
5 short stature63 hallmark (90%) HP:0004322
6 irregular hyperpigmentation63 hallmark (90%) HP:0007400
7 aplasia/hypoplasia of the skin63 hallmark (90%) HP:0008065
8 abnormal blistering of the skin63 hallmark (90%) HP:0008066
9 abnormal hair quantity63 hallmark (90%) HP:0011362
10 abnormality of the genital system63 typical (50%) HP:0000078
11 microcephaly63 typical (50%) HP:0000252
12 epicanthus63 typical (50%) HP:0000286
13 hypertelorism63 typical (50%) HP:0000316
14 short philtrum63 typical (50%) HP:0000322
15 micrognathia63 typical (50%) HP:0000347
16 deeply set eye63 typical (50%) HP:0000490
17 cataract63 typical (50%) HP:0000518
18 carious teeth63 typical (50%) HP:0000670
19 dry skin63 typical (50%) HP:0000958
20 hyperkeratosis63 typical (50%) HP:0000962
21 abnormality of the fingernails63 typical (50%) HP:0001231
22 joint dislocation63 typical (50%) HP:0001373
23 limitation of joint mobility63 typical (50%) HP:0001376
24 joint hypermobility63 typical (50%) HP:0001382
25 frontal bossing63 typical (50%) HP:0002007
26 scoliosis63 typical (50%) HP:0002650
27 abnormality of the hip bone63 typical (50%) HP:0003272
28 opacification of the corneal stroma63 typical (50%) HP:0007759
29 external ear malformation63 typical (50%) HP:0008572
30 sarcoma63 typical (50%) HP:0100242
31 cognitive impairment63 typical (50%) HP:0100543
32 aplasia/hypoplasia of the eyebrow63 typical (50%) HP:0100840
33 skin ulcer63 typical (50%) HP:0200042
34 nephropathy63 occasional (7.5%) HP:0000112
35 oral cleft63 occasional (7.5%) HP:0000202
36 sensorineural hearing impairment63 occasional (7.5%) HP:0000407
37 glaucoma63 occasional (7.5%) HP:0000501
38 ptosis63 occasional (7.5%) HP:0000508
39 hypertension63 occasional (7.5%) HP:0000822
40 abnormality of the adrenal glands63 occasional (7.5%) HP:0000834
41 abnormality of the metacarpal bones63 occasional (7.5%) HP:0001163
42 craniosynostosis63 occasional (7.5%) HP:0001363
43 abnormality of neutrophils63 occasional (7.5%) HP:0001874
44 anemia63 occasional (7.5%) HP:0001903
45 nausea and vomiting63 occasional (7.5%) HP:0002017
46 pyloric stenosis63 occasional (7.5%) HP:0002021
47 malabsorption63 occasional (7.5%) HP:0002024
48 abnormality of the bronchi63 occasional (7.5%) HP:0002109
49 premature graying of hair63 occasional (7.5%) HP:0002216
50 arthrogryposis multiplex congenita63 occasional (7.5%) HP:0002804
51 myelodysplasia63 occasional (7.5%) HP:0002863
52 abnormality of the ulna63 occasional (7.5%) HP:0002997
53 reduced bone mineral density63 occasional (7.5%) HP:0004349
54 abnormality of the sacrum63 occasional (7.5%) HP:0005107
55 patellar aplasia63 occasional (7.5%) HP:0006443
56 aplasia/hypoplasia of the radius63 occasional (7.5%) HP:0006501
57 neoplasm of the stomach63 occasional (7.5%) HP:0006753
58 neoplasm of the skin63 occasional (7.5%) HP:0008069
59 aplasia/hypoplasia of the thumb63 occasional (7.5%) HP:0009601
60 reduced number of teeth63 occasional (7.5%) HP:0009804
61 abnormal immunoglobulin level63 occasional (7.5%) HP:0010701
62 decreased corneal thickness63 occasional (7.5%) HP:0100689
63 intellectual disability63 rare (5%) HP:0001249
64 congenital hip dislocation63 rare (5%) HP:0001374
65 kyphoscoliosis63 rare (5%) HP:0002751
66 cryptorchidism63 HP:0000028
67 hypogonadism63 HP:0000135
68 mandibular prognathia63 HP:0000303
69 microcornea63 HP:0000482
70 strabismus63 HP:0000486
71 microphthalmia63 HP:0000568
72 delayed eruption of teeth63 HP:0000684
73 microdontia63 HP:0000691
74 osteoporosis63 HP:0000939
75 telangiectasia63 HP:0001009
76 anteriorly placed anus63 HP:0001545
77 alopecia63 HP:0001596
78 abnormality of the nail63 HP:0001597
79 annular pancreas63 HP:0001734
80 talipes equinovarus63 HP:0001762
81 short foot63 HP:0001773
82 osteosarcoma63 HP:0002669
83 basal cell carcinoma63 HP:0002671
84 squamous cell carcinoma63 HP:0002860
85 short nose63 HP:0003196
86 short palm63 HP:0004279
87 dermal atrophy63 HP:0004334
88 agenesis of permanent teeth63 HP:0006349
89 forearm reduction defects63 HP:0006368
90 juvenile zonular cataracts63 HP:0007713
91 sparse hair63 HP:0008070
92 short thumb63 HP:0009778
93 increased number of teeth63 HP:0011069
94 small hand63 HP:0200055

UMLS symptoms related to Rothmund-Thomson Syndrome:


exanthema

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
1Calcium, Dietary5525
2Bone Density Conservation Agents3266

Interventional clinical trials:

idNameStatusNCT IDPhase
1Calcium 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 Syndrome26 24 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

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MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2EP300, ERCC3, GJA1, MAPK1, RECQL4, WRN
2MP:00107718.8BLM, ERCC3, GJA1, GJB3, HELLS, MAPK1
3MP:00053807.9BLM, CDC45, DDX11, EP300, GJA1, GJB3
4MP:00020067.9BLM, EP300, ERCC3, MAPK1, RECQL4, RPA1
5MP:00107686.5BLM, CDC45, DDX11, EP300, ERCC3, GJA1
6MP:00053846.3BLM, CDC45, DDX11, EP300, ERCC3, GJA1

Publications for Rothmund-Thomson Syndrome

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Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 161)
idTitleAuthorsYear
1
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome. (28039508)
2017
2
Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. (27307676)
2016
3
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. (27287744)
2016
4
Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature. (27463631)
2016
5
Rothmund-thomson syndrome: a 13-year follow-up. (25120469)
2014
6
Rothmund-Thomson syndrome. (25396146)
2014
7
Oral findings of rothmund-thomson syndrome. (24363941)
2013
8
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. (22711845)
2012
9
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. (22821900)
2012
10
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
11
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. (21143835)
2010
12
Rothmund-Thomson syndrome. (20113479)
2010
13
Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report. (20194333)
2010
14
Late-onset Rothmund-Thomson syndrome. (17472679)
2007
15
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. (16214424)
2006
16
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. (16271439)
2006
17
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. (15897384)
2005
18
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. (15558713)
2005
19
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. (15960976)
2005
20
Infantile glaucoma in a patient with Rothmund-Thomson syndrome. (15559657)
2004
21
A patient with Rothmund-Thomson syndrome and tongue cancer--experience of radiation toxicity. (15341442)
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
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. (11471165)
2001
24
Excision repair defect in Rothmund Thomson syndrome. (10228638)
1999
25
Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. (10552928)
1999
26
Photosensitivity and the Rothmund-Thomson syndrome. (9990387)
1998
27
Increased susceptibility to apoptosis induced by anti-Fas antibody in a Rothmund-Thomson syndrome lymphoblastoid cell line. (9625528)
1998
28
A female patient with the Rothmund-Thomson syndrome associated with anhidrosis and severe infections of the respiratory tract. (9568421)
1998
29
Rothmund-Thomson syndrome and osteosarcoma. (8614379)
1996
30
Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: a case report. (8556381)
1996
31
Rothmund-Thomson syndrome and malignant fibrous histiocytoma: a case report. (7703036)
1995
32
Ocular abnormalities in a patient with Rothmund-Thomson syndrome. (7629671)
1995
33
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. (7966195)
1994
34
Rothmund-Thomson syndrome with osteosarcoma. (8436644)
1993
35
A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. (8447670)
1993
36
Rothmund-Thomson syndrome. (2352813)
1990
37
Rothmund-Thomson syndrome: a report of two patients and a review of the literature. (2196075)
1990
38
Rothmund-Thomson syndrome: a case report. (2616389)
1989
39
Duplicate reporting of patients with Rothmund-Thomson syndrome. (2491736)
1989
40
Rothmund-Thomson syndrome with calcinosis universalis. (3209323)
1988
41
Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome). (3676086)
1987
42
Rothmund-Thomson syndrome. A case report, phototesting, and literature review. (3624576)
1987
43
Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. (3856492)
1985
44
Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients. (7099192)
1982
45
Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome. (7029321)
1981
46
The Rothmund-Thomson syndrome: case report of an unusual syndrome. (5093233)
1971
47
Rothmund-Thomson syndrome: an oculocutaneous disorder. (5902033)
1966
48
Rothmund-Thomson syndrome. (5977950)
1966
49
POIKILODERMA CONGENITALE. (ROTHMUND--THOMSON SYNDROME). (14162100)
1963
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 29)
id Gene Variation Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.82C> T (p.Gln28Ter)SNVPathogenicrs794726912GRCh37Chr 8, 145743087: 145743087
2RECQL4NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs)deletionPathogenicrs746636748GRCh38Chr 8, 144516070: 144516071
3GJA1NM_000165.4(GJA1): c.681A> T (p.Glu227Asp)SNVPathogenicrs875989815GRCh38Chr 6, 121447528: 121447528
4GJA1NM_000165.4(GJA1): c.131C> T (p.Ala44Val)SNVPathogenicrs794729675GRCh37Chr 6, 121768124: 121768124
5RECQL4NM_004260.3(RECQL4): c.1259-1G> ASNVPathogenicrs372380880GRCh37Chr 8, 145740842: 145740842
6RECQL4NM_004260.3(RECQL4): c.1568delG (p.Ser523Thrfs)deletionPathogenicrs886043102GRCh37Chr 8, 145740372: 145740372
7GJB4NM_153212.2(GJB4): c.409T> C (p.Phe137Leu)SNVPathogenicrs80358207GRCh37Chr 1, 35227264: 35227264
8GJB4NM_153212.2(GJB4): c.411C> A (p.Phe137Leu)SNVPathogenicrs80358206GRCh37Chr 1, 35227266: 35227266
9GJB4NM_153212.2(GJB4): c.253A> C (p.Thr85Pro)SNVPathogenicrs80358210GRCh37Chr 1, 35227108: 35227108
10GJB4NM_153212.2(GJB4): c.35G> A (p.Gly12Asp)SNVPathogenicrs80358211GRCh37Chr 1, 35226890: 35226890
11GJB4NM_153212.2(GJB4): c.65G> A (p.Arg22His)SNVPathogenicrs80358212GRCh37Chr 1, 35226920: 35226920
12GJB4NM_153212.2(GJB4): c.566T> A (p.Phe189Tyr)SNVPathogenicrs80358213GRCh37Chr 1, 35227421: 35227421
13RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)SNVLikely pathogenic, Pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
14RECQL4NM_004260.3(RECQL4): c.1650_1656delGGCCTGC (p.Ala551Tyrfs)deletionPathogenicrs786200887GRCh37Chr 8, 145739874: 145739880
15RECQL4NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)SNVPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796
16RECQL4NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs)deletionPathogenicrs752729755GRCh37Chr 8, 145738492: 145738493
17RECQL4NM_004260.3(RECQL4): c.2059-1G> TSNVPathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
18RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
19RECQL4NM_004260.3(RECQL4): c.1391-1G> ASNVPathogenicrs117642173GRCh37Chr 8, 145740627: 145740627
20RECQL4NM_004260.3(RECQL4): c.2059-1G> CSNVPathogenicrs386833849GRCh38Chr 8, 144513713: 144513713
21RECQL4NM_004260.3(RECQL4): c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro)deletionPathogenicrs786200890GRCh37Chr 8, 145739446: 145739451
22RECQL4NM_004260.3(RECQL4): c.1704+1G> ASNVPathogenicrs760363252GRCh37Chr 8, 145739825: 145739825
23GJB3NM_024009.2(GJB3): c.34G> C (p.Gly12Arg)SNVPathogenicrs74315315GRCh37Chr 1, 35250397: 35250397
24GJB3NM_024009.2(GJB3): c.35G> A (p.Gly12Asp)SNVPathogenicrs74315316GRCh37Chr 1, 35250398: 35250398
25GJB3NM_024009.2(GJB3): c.256T> A (p.Cys86Ser)SNVPathogenicrs74315317GRCh37Chr 1, 35250619: 35250619
26GJB3NM_024009.2(GJB3): c.125G> C (p.Arg42Pro)SNVPathogenicrs74315321GRCh37Chr 1, 35250488: 35250488
27GJB3NM_024009.2(GJB3): c.101T> C (p.Leu34Pro)SNVPathogenicrs28937583GRCh37Chr 1, 35250464: 35250464
28GJB3NM_024009.2(GJB3): c.580G> A (p.Ala194Thr)SNVPathogenicrs117385606GRCh37Chr 1, 35250943: 35250943
29RECQL4NM_004260.3(RECQL4): c.2464-1G> CSNVPathogenicrs398124117GRCh37Chr 8, 145738522: 145738522

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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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
1connexin complexGO:000592210.7GJA1, GJB3, GJB4
2replication fork protection complexGO:003129810.3CDC45, MCM10
3chromosomeGO:000569410.2RECQL, RECQL4, RECQL5
4gap junctionGO:000592110.1GJA1, GJB3
5nucleoplasmGO:00056545.9BLM, CDC45, DDX11, EP300, ERCC3, MAPK1
6nucleusGO:00056345.5BLM, CDC45, DDX11, EP300, ERCC3, HELLS

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1DNA strand renaturationGO:000073310.4BLM, RECQL, RECQL4
2cell communicationGO:000715410.1GJA1, GJB3, GJB4
3protein sumoylationGO:001692510.0BLM, RPA1, WRN
4DNA recombinationGO:000631010.0BLM, RECQL4, RPA1
5DNA metabolic processGO:000625910.0RECQL5, WRN
6base-excision repairGO:00062849.9RECQL4, RPA1, WRN
7double-strand break repair via homologous recombinationGO:00007249.8BLM, RECQL, RECQL5, RPA1
8nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.8ERCC3, RPA1
9nucleotide-excision repair, preincision complex stabilizationGO:00062939.8ERCC3, RPA1
10regulation of signal transduction by p53 class mediatorGO:19017969.5BLM, EP300, RPA1, WRN
11transcription-coupled nucleotide-excision repairGO:00062839.5EP300, ERCC3, RPA1
12cellular response to DNA damage stimulusGO:00069749.4BLM, MAPK1, MCM10, WRN
13G1/S transition of mitotic cell cycleGO:00000829.3CDC45, MCM10, RPA1
14regulation of cellular response to heatGO:19000348.9EP300, MAPK1, RPA1
15viral processGO:00160328.9DDX11, EP300, ERCC3, MAPK1
16DNA duplex unwindingGO:00325088.7BLM, CDC45, DDX11, RECQL, RECQL4, RECQL5
17DNA replicationGO:00062608.5BLM, CDC45, MCM10, RECQL4, RECQL5, RPA1
18DNA repairGO:00062818.4BLM, ERCC3, RECQL, RECQL4, RECQL5, RPA1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:000524310.8GJA1, GJB3
2G-quadruplex DNA bindingGO:005188010.5BLM, WRN
3annealing helicase activityGO:003631010.4BLM, RECQL, RECQL4
4bubble DNA bindingGO:000040510.4BLM, RECQL4, WRN
5DNA replication origin bindingGO:000368810.2CDC45, MCM10
6DNA helicase activityGO:000367810.1RECQL, RECQL5, WRN
7RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.0ERCC3, MAPK1
83-5 DNA helicase activityGO:00431389.9CDC45, ERCC3, WRN
9four-way junction helicase activityGO:00093789.9BLM, RECQL, RECQL4, RECQL5, WRN
10ATP-dependent 3-5 DNA helicase activityGO:00431409.9BLM, RECQL, RECQL4, RECQL5, WRN
11damaged DNA bindingGO:00036849.6EP300, ERCC3, RPA1
12ATP-dependent DNA helicase activityGO:00040038.9BLM, DDX11, ERCC3, RECQL, WRN
13single-stranded DNA bindingGO:00036978.6BLM, CDC45, DDX11, MCM10, RPA1
14helicase activityGO:00043868.4BLM, DDX11, ERCC3, HELLS, WRN
15ATP bindingGO:00055247.4BLM, DDX11, ERCC3, HELLS, MAPK1, RECQL

Sources for Rothmund-Thomson Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet