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 52 11 23 48 24 25 70 27 12 50 39 13 68
Rts 11 48 25 70
Poikiloderma Atrophicans and Cataract 48 25
Poikiloderma Congenitale 48 25
 
Congenital Poikiloderma 11 25
Poikiloderma Congenitale of Rothmund-Thomson 25
Poikiloderma of Rothmund-Thomson 48
Erythrokeratodermia Variabilis 68

Characteristics:

HPO:

64
rothmund-thomson syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 268400
Disease Ontology11 DOID:2732
ICD1030 Q82.8
MeSH39 D011038
NCIt45 C3335
MedGen37 C0032339

Summaries for Rothmund-Thomson Syndrome

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NIH Rare Diseases:48 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 Increased viability with MLN4924 (a NAE inhibitor) and craniofacial.

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

UniProtKB/Swiss-Prot:70 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:71 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 & Phenotypes 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:

 64 (show all 94)
id Description HPO Frequency HPO Source Accession
1 cutis marmorata64 hallmark (90%) HP:0000965
2 cutaneous photosensitivity64 hallmark (90%) HP:0000992
3 poikiloderma64 hallmark (90%) HP:0001029
4 hypopigmented skin patches64 hallmark (90%) HP:0001053
5 short stature64 hallmark (90%) HP:0004322
6 irregular hyperpigmentation64 hallmark (90%) HP:0007400
7 aplasia/hypoplasia of the skin64 hallmark (90%) HP:0008065
8 abnormal blistering of the skin64 hallmark (90%) HP:0008066
9 abnormal hair quantity64 hallmark (90%) HP:0011362
10 abnormality of the genital system64 typical (50%) HP:0000078
11 microcephaly64 typical (50%) HP:0000252
12 epicanthus64 typical (50%) HP:0000286
13 hypertelorism64 typical (50%) HP:0000316
14 short philtrum64 typical (50%) HP:0000322
15 micrognathia64 typical (50%) HP:0000347
16 deeply set eye64 typical (50%) HP:0000490
17 cataract64 typical (50%) HP:0000518
18 carious teeth64 typical (50%) HP:0000670
19 dry skin64 typical (50%) HP:0000958
20 hyperkeratosis64 typical (50%) HP:0000962
21 abnormality of the fingernails64 typical (50%) HP:0001231
22 joint dislocation64 typical (50%) HP:0001373
23 limitation of joint mobility64 typical (50%) HP:0001376
24 joint hypermobility64 typical (50%) HP:0001382
25 frontal bossing64 typical (50%) HP:0002007
26 scoliosis64 typical (50%) HP:0002650
27 abnormality of the hip bone64 typical (50%) HP:0003272
28 opacification of the corneal stroma64 typical (50%) HP:0007759
29 external ear malformation64 typical (50%) HP:0008572
30 sarcoma64 typical (50%) HP:0100242
31 cognitive impairment64 typical (50%) HP:0100543
32 aplasia/hypoplasia of the eyebrow64 typical (50%) HP:0100840
33 skin ulcer64 typical (50%) HP:0200042
34 nephropathy64 occasional (7.5%) HP:0000112
35 oral cleft64 occasional (7.5%) HP:0000202
36 sensorineural hearing impairment64 occasional (7.5%) HP:0000407
37 glaucoma64 occasional (7.5%) HP:0000501
38 ptosis64 occasional (7.5%) HP:0000508
39 hypertension64 occasional (7.5%) HP:0000822
40 abnormality of the adrenal glands64 occasional (7.5%) HP:0000834
41 abnormality of the metacarpal bones64 occasional (7.5%) HP:0001163
42 craniosynostosis64 occasional (7.5%) HP:0001363
43 abnormality of neutrophils64 occasional (7.5%) HP:0001874
44 anemia64 occasional (7.5%) HP:0001903
45 nausea and vomiting64 occasional (7.5%) HP:0002017
46 pyloric stenosis64 occasional (7.5%) HP:0002021
47 malabsorption64 occasional (7.5%) HP:0002024
48 abnormality of the bronchi64 occasional (7.5%) HP:0002109
49 premature graying of hair64 occasional (7.5%) HP:0002216
50 arthrogryposis multiplex congenita64 occasional (7.5%) HP:0002804
51 myelodysplasia64 occasional (7.5%) HP:0002863
52 abnormality of the ulna64 occasional (7.5%) HP:0002997
53 reduced bone mineral density64 occasional (7.5%) HP:0004349
54 abnormality of the sacrum64 occasional (7.5%) HP:0005107
55 patellar aplasia64 occasional (7.5%) HP:0006443
56 aplasia/hypoplasia of the radius64 occasional (7.5%) HP:0006501
57 neoplasm of the stomach64 occasional (7.5%) HP:0006753
58 neoplasm of the skin64 occasional (7.5%) HP:0008069
59 aplasia/hypoplasia of the thumb64 occasional (7.5%) HP:0009601
60 reduced number of teeth64 occasional (7.5%) HP:0009804
61 abnormal immunoglobulin level64 occasional (7.5%) HP:0010701
62 decreased corneal thickness64 occasional (7.5%) HP:0100689
63 intellectual disability64 rare (5%) HP:0001249
64 congenital hip dislocation64 rare (5%) HP:0001374
65 kyphoscoliosis64 rare (5%) HP:0002751
66 cryptorchidism64 HP:0000028
67 hypogonadism64 HP:0000135
68 mandibular prognathia64 HP:0000303
69 microcornea64 HP:0000482
70 strabismus64 HP:0000486
71 microphthalmia64 HP:0000568
72 delayed eruption of teeth64 HP:0000684
73 microdontia64 HP:0000691
74 osteoporosis64 HP:0000939
75 telangiectasia64 HP:0001009
76 anteriorly placed anus64 HP:0001545
77 alopecia64 HP:0001596
78 abnormality of the nail64 HP:0001597
79 annular pancreas64 HP:0001734
80 talipes equinovarus64 HP:0001762
81 short foot64 HP:0001773
82 osteosarcoma64 HP:0002669
83 basal cell carcinoma64 HP:0002671
84 squamous cell carcinoma64 HP:0002860
85 short nose64 HP:0003196
86 short palm64 HP:0004279
87 dermal atrophy64 HP:0004334
88 agenesis of permanent teeth64 HP:0006349
89 forearm reduction defects64 HP:0006368
90 juvenile zonular cataracts64 HP:0007713
91 sparse hair64 HP:0008070
92 short thumb64 HP:0009778
93 increased number of teeth64 HP:0011069
94 small hand64 HP:0200055

UMLS symptoms related to Rothmund-Thomson Syndrome:


exanthema

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-38.6BLM, EP300, ERCC3, RECQL, RECQL4, RECQL5

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

41
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

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 Syndrome27 24 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

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MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

36
Skin, Bone, Eye, Pancreas, Neutrophil, Adrenal gland, Tongue

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: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. (27247962)
2016
6
Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome. (26617641)
2015
7
Rothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype? (25751344)
2015
8
Leg ulcer in a patient with Rothmund-Thomson syndrome. (26543707)
2015
9
Dental management of Rothmund-Thomson syndrome with partial anodontia. (26032705)
2015
10
A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome. (26515231)
2015
11
Osteosarcoma in patients with Rothmund-Thomson syndrome. (25551679)
2015
12
Rothmund-thomson syndrome: a 13-year follow-up. (25120469)
2014
13
Rothmund-Thomson syndrome. (25396146)
2014
14
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. (24518840)
2014
15
Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice. (24832598)
2014
16
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. (24960165)
2014
17
Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome. (25266359)
2014
18
Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature. (25441286)
2014
19
Rare skeletal abnormalities in Rothmund-Thomson syndrome: a case report. (25311928)
2014
20
Oral findings of rothmund-thomson syndrome. (24363941)
2013
21
The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. (23683351)
2013
22
Clinical utility gene card for: Rothmund-Thomson syndrome. (23188052)
2013
23
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. (24157463)
2013
24
Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome. (23001818)
2013
25
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. (22711845)
2012
26
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. (22821900)
2012
27
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. (22039056)
2012
28
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome. (21418107)
2011
29
Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis. (21951866)
2011
30
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
31
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. (21143835)
2010
32
Rothmund-Thomson syndrome. (20113479)
2010
33
Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report. (20194333)
2010
34
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. (20503338)
2010
35
Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair. (20096650)
2010
36
Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome. (20860557)
2010
37
Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. (19177149)
2009
38
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (19299466)
2009
39
Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. (17372760)
2008
40
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. (18755177)
2008
41
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. (18504617)
2008
42
Amelanotic melanoma in a patient with Rothmund-Thomson syndrome. (18347307)
2008
43
Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. (18346259)
2008
44
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. (18647888)
2008
45
Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? (18952524)
2008
46
Late-onset Rothmund-Thomson syndrome. (17472679)
2007
47
Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome. (17250521)
2007
48
Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. (17264332)
2007
49
Short root anomaly associated with Rothmund-Thomson syndrome. (17178481)
2007
50
Rothmund-thomson syndrome: more than just a cosmetic concern. (17686357)
2007

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
1gap junctionGO:000592110.9GJA1, GJB3
2connexin complexGO:000592210.7GJA1, GJB3, GJB4
3chromosomeGO:000569410.6RECQL, RECQL4, RECQL5
4replication fork protection complexGO:00312989.6CDC45, MCM10
5nucleoplasmGO:00056547.0BLM, CDC45, DDX11, EP300, ERCC3, MAPK1
6nucleusGO:00056345.7BLM, 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 metabolic processGO:000625910.7RECQL5, WRN
2cell communicationGO:000715410.6GJA1, GJB3, GJB4
3DNA strand renaturationGO:000073310.5BLM, RECQL, RECQL4
4base-excision repairGO:000628410.3RECQL4, RPA1, WRN
5DNA recombinationGO:000631010.3BLM, RECQL4, RPA1
6protein sumoylationGO:001692510.2BLM, RPA1, WRN
7nucleotide-excision repair, DNA incision, 3-to lesionGO:000629510.1ERCC3, RPA1
8nucleotide-excision repair, preincision complex stabilizationGO:000629310.1ERCC3, RPA1
9double-strand break repair via homologous recombinationGO:00007249.9BLM, RECQL, RECQL5, RPA1
10regulation of cellular response to heatGO:19000349.9EP300, MAPK1, RPA1
11G1/S transition of mitotic cell cycleGO:00000829.9CDC45, MCM10, RPA1
12regulation of signal transduction by p53 class mediatorGO:19017969.8BLM, EP300, RPA1, WRN
13cellular response to DNA damage stimulusGO:00069749.7BLM, MAPK1, MCM10, WRN
14transcription-coupled nucleotide-excision repairGO:00062839.7EP300, ERCC3, RPA1
15DNA duplex unwindingGO:00325089.1BLM, CDC45, DDX11, RECQL, RECQL4, RECQL5
16DNA repairGO:00062819.1BLM, ERCC3, RECQL, RECQL4, RECQL5, RPA1
17DNA replicationGO:00062608.9BLM, CDC45, MCM10, RECQL4, RECQL5, RPA1
18viral processGO:00160328.5DDX11, EP300, ERCC3, MAPK1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:000524310.7GJA1, GJB3
2G-quadruplex DNA bindingGO:005188010.5BLM, WRN
3annealing helicase activityGO:003631010.5BLM, RECQL, RECQL4
4bubble DNA bindingGO:000040510.4BLM, RECQL4, WRN
5DNA helicase activityGO:000367810.3RECQL, RECQL5, WRN
6DNA replication origin bindingGO:000368810.2CDC45, MCM10
73-5 DNA helicase activityGO:004313810.0CDC45, ERCC3, WRN
8RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.0ERCC3, MAPK1
9ATP-dependent 3-5 DNA helicase activityGO:00431409.9BLM, RECQL, RECQL4, RECQL5, WRN
10four-way junction helicase activityGO:00093789.8BLM, RECQL, RECQL4, RECQL5, WRN
11damaged DNA bindingGO:00036849.6EP300, ERCC3, RPA1
12ATP-dependent DNA helicase activityGO:00040039.2BLM, DDX11, ERCC3, RECQL, WRN
13helicase activityGO:00043869.0BLM, DDX11, ERCC3, HELLS, WRN
14single-stranded DNA bindingGO:00036978.4BLM, CDC45, DDX11, MCM10, RPA1
15ATP bindingGO:00055248.0BLM, DDX11, ERCC3, HELLS, MAPK1, RECQL

Sources for Rothmund-Thomson Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet