RTS
MCID: RTH001
MIFTS: 70

Rothmund-Thomson Syndrome (RTS) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Rothmund-Thomson Syndrome

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NIH Rare Diseases:42 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

MalaCards based summary: Rothmund-Thomson Syndrome, also known as poikiloderma of rothmund-thomson, is related to poikiloderma with neutropenia and osteosarcoma, and has symptoms including skin hypoplasia/aplasia/atrophy, cutis marmorata/marbled skin/livedo and skin photosensitivity. An important gene associated with Rothmund-Thomson Syndrome is RECQL4 (RecQ protein-like 4), and among its related pathways are Regulation of Telomerase and BRCA1 Pathway. The compounds 8-hydroxyadenine and dttp have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are embryogenesis and mortality/aging.

Genetics Home Reference:21 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.

Wikipedia:65 Rothmund?Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma... more...

Description from OMIM:46 268400

GeneReviews summary for rts

Aliases & Classifications for Rothmund-Thomson Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Rothmund-Thomson Syndrome, Aliases & Descriptions:

Name: Rothmund-Thomson Syndrome 8 9 19 21 46 10 44 48 62
Poikiloderma of Rothmund-Thomson 42 48 62
Rothmund Thomson Syndrome 42 20 22
Rts 8 21 48
Poikiloderma Congenitale of Rothmund-Thomson 21 62
 
Poikiloderma Atrophicans and Cataract 42 21
Poikiloderma Congenitale 42 21
Congenital Poikiloderma 8 21
Erythrokeratodermia Variabilis 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
rothmund-thomson syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

Disease Ontology8 DOID:2732
MeSH34 D011038
OMIM46 268400
NCIt39 C3335
MESH via Orphanet35 D011038
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet63 C0032339

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/GeneDecks gene sharing:

(show top 50)    (show all 296)
idRelated DiseaseScoreTop Affiliating Genes
1poikiloderma with neutropenia31.3USB1
2osteosarcoma31.2RECQL4, WRN, TYMS
3cataract30.7RECQL4, WRN
4baller-gerold syndrome30.7RECQL5, RECQL, RECQL4
5neutropenia30.6RECQL4, TYMS
6werner syndrome30.1BLM, WRN, HELLS, RECQL4, RECQL, RECQL5
7bloom syndrome29.9BLM, WRN, HELLS, RECQL4, RECQL, RECQL5
8ataxia telangiectasia29.8BLM, WRN, HELLS
9breast cancer10.7
10leukemia10.7
11sarcoma10.6
12prostatitis10.6
13prostate cancer10.5
14colorectal cancer10.5
15thyroiditis10.5
16myeloid leukemia10.5
17glomerulonephritis10.4
18calcinosis10.4
19esophagitis10.4
20dwarfism10.4
21keratoderma10.4
22rothmund-thomson syndrome type 110.4
23rothmund-thomson syndrome type 210.4
24gastric cancer10.4
25hepatitis10.4
26peritonitis10.4
27acute myeloid leukemia10.4
28adenocarcinoma10.3
29colon cancer10.3
30lung cancer10.3
31acute promyelocytic leukemia10.3
32endotheliitis10.3
33newcastle disease10.3
34influenza10.3
35scleroderma10.3
36linear scleroderma10.3
37alopecia10.3
38aplastic anemia10.3
39hodgkin's lymphoma10.3
40hydrocephalus10.3
41myelodysplastic syndromes10.3
42dyskeratosis congenita10.3
43muscular atrophy10.3
44bronchiectasis10.3
45amelanotic melanoma10.3
46fibrous histiocytoma10.3
47klippel-feil syndrome10.3
48nasopharyngitis10.3
49duodenitis10.3
50anhidrosis10.3

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

Symptoms:

48 (show all 75)
  • skin hypoplasia/aplasia/atrophy
  • cutis marmorata/marbled skin/livedo
  • skin photosensitivity
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • irregular/patchy skin hypopigmentation
  • irregular/in bands/reticular skin hyperpigmentation
  • telangiectasic erythema/poikiloderma
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • neoplasms/tumors
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • brachycephaly/flat occiput
  • frontal bossing/prominent forehead
  • face/facial anomalies
  • hypertelorism
  • deepset eyes/enophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • corneal clouding/opacity/vascularisation
  • cataract/lens opacification
  • absent/decreased/thin eyebrows
  • anomalies of eyelids, eyelashes and lacrimal system
  • epicanthic folds
  • anomalies of nose and olfaction
  • short philtrum
  • anomalies of teeth and dentition
  • multiple caries
  • external ear anomalies
  • scoliosis
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • dry/squaly skin/exfoliation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • hair and scalp anomalies
  • abnormal fingernails
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anomalies of bones/skeletal anomalies
  • restricted joint mobility/joint stiffness/ankylosis
  • hyperextensible joints/articular hyperlaxity
  • joint dislocation/subluxation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • sarcoma
  • craniostenosis/craniosynostosis/sutural synostosis
  • glaucoma
  • keratoconus/keratoglobus
  • ptosis
  • cleft lip and palate
  • anodontia/oligodontia/hypodontia
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • sacro-coccyx/sacrum anomaly
  • arthrogryposis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • metacarpal anomalies/archibald's sign
  • thumb hypoplasia/aplasia/absence
  • patella absent/abnormal (excluding luxation)
  • premature greying of hair
  • gastric/pyloric stenosis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • malabsorption/chronic diarrhea/steatorrhea
  • bronchial dilation/dilatation/bronchiectasia
  • chronic arterial hypertension
  • renal disease/nephropathy
  • adrenal glands anomalies
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • anaemia
  • polynuclear cells/neutrophils anomalies/neutropenia
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • myelodysplastic syndrome

HPO human phenotypes related to Rothmund-Thomson Syndrome:

(show all 102)
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 abnormality of the nose typical (50%) HP:0000366
17 deeply set eye typical (50%) HP:0000490
18 cataract typical (50%) HP:0000518
19 carious teeth typical (50%) HP:0000670
20 dry skin typical (50%) HP:0000958
21 hyperkeratosis typical (50%) HP:0000962
22 abnormality of the fingernails typical (50%) HP:0001231
23 joint dislocation typical (50%) HP:0001373
24 limitation of joint mobility typical (50%) HP:0001376
25 joint hypermobility typical (50%) HP:0001382
26 frontal bossing typical (50%) HP:0002007
27 scoliosis typical (50%) HP:0002650
28 abnormality of the hip bone typical (50%) HP:0003272
29 opacification of the corneal stroma typical (50%) HP:0007759
30 external ear malformation typical (50%) HP:0008572
31 sarcoma typical (50%) HP:0100242
32 cognitive impairment typical (50%) HP:0100543
33 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
34 skin ulcer typical (50%) HP:0200042
35 nephropathy occasional (7.5%) HP:0000112
36 oral cleft occasional (7.5%) HP:0000202
37 sensorineural hearing impairment occasional (7.5%) HP:0000407
38 glaucoma occasional (7.5%) HP:0000501
39 ptosis occasional (7.5%) HP:0000508
40 hypertension occasional (7.5%) HP:0000822
41 abnormality of the adrenal glands occasional (7.5%) HP:0000834
42 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
43 craniosynostosis occasional (7.5%) HP:0001363
44 abnormality of neutrophils occasional (7.5%) HP:0001874
45 anemia occasional (7.5%) HP:0001903
46 nausea and vomiting occasional (7.5%) HP:0002017
47 pyloric stenosis occasional (7.5%) HP:0002021
48 malabsorption occasional (7.5%) HP:0002024
49 abnormality of the bronchi occasional (7.5%) HP:0002109
50 premature graying of hair occasional (7.5%) HP:0002216
51 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
52 myelodysplasia occasional (7.5%) HP:0002863
53 abnormality of the ulna occasional (7.5%) HP:0002997
54 reduced bone mineral density occasional (7.5%) HP:0004349
55 abnormality of the sacrum occasional (7.5%) HP:0005107
56 patellar aplasia occasional (7.5%) HP:0006443
57 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
58 neoplasm of the stomach occasional (7.5%) HP:0006753
59 neoplasm of the skin occasional (7.5%) HP:0008069
60 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
61 reduced number of teeth occasional (7.5%) HP:0009804
62 abnormal immunoglobulin level occasional (7.5%) HP:0010701
63 decreased corneal thickness occasional (7.5%) HP:0100689
64 intellectual disability rare (5%) HP:0001249
65 congenital hip dislocation rare (5%) HP:0001374
66 kyphoscoliosis rare (5%) HP:0002751
67 autosomal recessive inheritance HP:0000007
68 cryptorchidism HP:0000028
69 hypogonadism HP:0000135
70 mandibular prognathia HP:0000303
71 microcornea HP:0000482
72 strabismus HP:0000486
73 glaucoma HP:0000501
74 microphthalmos HP:0000568
75 delayed eruption of teeth HP:0000684
76 microdontia HP:0000691
77 osteoporosis HP:0000939
78 cutaneous photosensitivity HP:0000992
79 telangiectasia HP:0001009
80 poikiloderma HP:0001029
81 anteriorly placed anus HP:0001545
82 alopecia HP:0001596
83 abnormality of the nail HP:0001597
84 annular pancreas HP:0001734
85 talipes equinovarus HP:0001762
86 short foot HP:0001773
87 frontal bossing HP:0002007
88 premature graying of hair HP:0002216
89 osteosarcoma HP:0002669
90 basal cell carcinoma HP:0002671
91 squamous cell carcinoma HP:0002860
92 short nose HP:0003196
93 short palm HP:0004279
94 short stature HP:0004322
95 dermal atrophy HP:0004334
96 agenesis of permanent teeth HP:0006349
97 forearm reduction defects HP:0006368
98 juvenile zonular cataracts HP:0007713
99 sparse hair HP:0008070
100 short thumb HP:0009778
101 increased number of teeth HP:0011069
102 small hand HP:0200055

Drugs & Therapeutics for Rothmund-Thomson Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for 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 Syndrome20 22 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

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MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

32
Skin, Bone, Eye, Adrenal gland, Neutrophil, Tongue, Pancreas

Animal Models for Rothmund-Thomson Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.9CDC45, RECQL4, HELLS, MCM10, BLM
2MP:00107687.9BLM, WRN, MCM10, HELLS, RECQL4, CDC45
3MP:00053846.9RECQL4, HELLS, WRN, RECQL, RECQL5, CDC45

Publications for Rothmund-Thomson Syndrome

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Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 149)
idTitleAuthorsYear
1
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. (24960165)
2014
2
Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome. (25266359)
2014
3
Rothmund-thomson syndrome: a 13-year follow-up. (25120469)
2014
4
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. (24157463)
2013
5
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
6
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. (20503338)
2010
7
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (19299466)
2009
8
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. (18755177)
2008
9
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. (18504617)
2008
10
Short root anomaly associated with Rothmund-Thomson syndrome. (17178481)
2007
11
Late-onset Rothmund-Thomson syndrome. (17472679)
2007
12
Rothmund-thomson syndrome: more than just a cosmetic concern. (17686357)
2007
13
Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease. (16998609)
2006
14
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. (16214424)
2006
15
Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. (16271439)
2006
16
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. (15703196)
2005
17
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. (15897384)
2005
18
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
19
Infantile glaucoma in a patient with Rothmund-Thomson syndrome. (15559657)
2004
20
Rothmund-Thomson syndrome in a young man without cataract involvement. (16201731)
2004
21
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
22
Variable presentation of Rothmund-Thomson syndrome. (11102924)
2000
23
Overlap between Baller-Gerold and Rothmund-Thomson syndrome. (11045594)
2000
24
Corneal subepithelial nodular scarring treated with phototherapeutic keratectomy in a child with Rothmund-Thomson syndrome. (10632020)
2000
25
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
26
Excision repair defect in Rothmund Thomson syndrome. (10228638)
1999
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:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1RECQL4RECQL4, 7-BP DEL, NT1650deletionPathogenic
2RECQL4NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)single nucleotide variantPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796
3RECQL4RECQL4, 2-BP DEL, NT2492deletionPathogenic
4RECQL4RECQL4, IVS12AS, G-T, -1single nucleotide variantPathogenic
5RECQL4RECQL4, 1-BP DEL, 1573TdeletionPathogenic
6RECQL4RECQL4, IVS7AS, G-Asingle nucleotide variantPathogenic
7RECQL4RECQL4, 1-BP DEL, 1473TdeletionPathogenic
8RECQL4RECQL4, IVS12AS, G-C, -1single nucleotide variantPathogenic
9RECQL4RECQL4, 1-BP DEL, 2886TdeletionPathogenic
10RECQL4RECQL4, 6-BP DEL, NT1919deletionPathogenic
11RECQL4RECQL4, IVS10DS, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Rothmund-Thomson Syndrome

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Expression patterns in normal tissues for genes affiliated with Rothmund-Thomson Syndrome

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Pathways for genes affiliated with Rothmund-Thomson Syndrome

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Compounds for genes affiliated with Rothmund-Thomson Syndrome

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Compounds related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
18-hydroxyadenine449.8WRN, HELLS
2dttp449.7HELLS, TYMS
38-oxoguanine449.7HELLS, WRN
4camptothecin44 61 1111.7TYMS, BLM, WRN
5purine44 2410.6HELLS, TYMS
6methylmethanesulfonate449.5BLM, WRN, HELLS
7irinotecan44 50 1111.5TYMS, WRN
8cisplatin44 50 61 1112.2HELLS, WRN, TYMS
9hydroxyurea44 50 1110.9WRN, HELLS, RECQL4, BLM, TYMS
10atp44 289.9WRN, HELLS, BLM, RECQL
11magnesium44 24 1110.3ENOSF1, BLM, WRN, HELLS, RECQL

GO Terms for genes affiliated with Rothmund-Thomson Syndrome

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Cellular components related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:0057308.0TYMS, BLM, WRN, MCM10, RECQL, RECQL5
2nucleoplasmGO:0056547.9TYMS, WRN, MCM10, RECQL5, CDC45
3cytoplasmGO:0057377.9CDC45, RECQL5, RECQL4, MCM10, BLM, TYMS
4nucleusGO:0056346.6CDC45, TYMS, BLM, USB1, MCM10, HELLS

Biological processes related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1replication fork processingGO:03129710.0BLM, WRN
2DNA strand renaturationGO:0007339.6BLM, RECQL, RECQL4
3DNA metabolic processGO:0062599.6WRN, RECQL5
4telomere maintenanceGO:0007239.6BLM, WRN
5regulation of transcription involved in G1/S transition of mitotic cell cycleGO:0000839.5TYMS, CDC45
6G1/S transition of mitotic cell cycleGO:0000829.1MCM10, TYMS, CDC45
7mitotic cell cycleGO:0002789.0TYMS, MCM10, CDC45
8DNA duplex unwindingGO:0325088.9RECQL5, BLM, RECQL, RECQL4, WRN
9DNA recombinationGO:0063108.9RECQL4, BLM, WRN, RECQL5, RECQL
10DNA repairGO:0062818.8TYMS, BLM, RECQL4, RECQL, RECQL5
11DNA replicationGO:0062607.8MCM10, RECQL5, RECQL, RECQL4, WRN, TYMS

Molecular functions related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1four-way junction helicase activityGO:0093789.9WRN, BLM
2bubble DNA bindingGO:0004059.8RECQL4, WRN, BLM
3G-quadruplex DNA bindingGO:0518809.8WRN, BLM
4ATP-dependent helicase activityGO:0080269.7BLM, RECQL5
5annealing helicase activityGO:0363109.6RECQL4, BLM, RECQL
6ATP-dependent DNA helicase activityGO:0040039.6WRN, RECQL, BLM
7DNA helicase activityGO:0036789.5RECQL5, WRN, RECQL
8ATP-dependent 3-5 DNA helicase activityGO:0431409.4RECQL, RECQL4, WRN, BLM
9helicase activityGO:0043869.3WRN, HELLS, BLM
10ATP bindingGO:0055247.9BLM, WRN, RECQL4, RECQL, RECQL5, HELLS

Products for genes affiliated with Rothmund-Thomson Syndrome

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Sources for Rothmund-Thomson Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet