RTS
MCID: RTH001
MIFTS: 55

Rothmund-Thomson Syndrome (RTS) malady

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

Aliases & Classifications for Rothmund-Thomson Syndrome

Aliases & Descriptions for Rothmund-Thomson Syndrome:

Name: Rothmund-Thomson Syndrome 54 12 23 50 24 25 66 29 13 52 42 14 69
Rts 12 50 25 66
Poikiloderma Atrophicans and Cataract 50 25
Poikiloderma Congenitale 50 25
Congenital Poikiloderma 12 25
Poikiloderma Congenitale of Rothmund-Thomson 25
Poikiloderma of Rothmund-Thomson 50
Erythrokeratodermia Variabilis 69

Characteristics:

HPO:

32
rothmund-thomson syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 268400
Disease Ontology 12 DOID:2732
ICD10 33 Q82.8
MeSH 42 D011038
NCIt 47 C3335
MedGen 40 C0032339
UMLS 69 C0032339

Summaries for Rothmund-Thomson Syndrome

NIH Rare Diseases : 50 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 nausea and vomiting, dry skin and hypertelorism. An important gene associated with Rothmund-Thomson Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are DNA Damage and Apoptosis-related network due to altered Notch3 in ovarian cancer. The drugs Bone Density Conservation Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and cellular

Genetics Home Reference : 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 : 54 Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper-... (268400) more...

UniProtKB/Swiss-Prot : 66 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: NBK1237

Related Diseases for Rothmund-Thomson Syndrome

Diseases in the Rothmund-Thomson Syndrome family:

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

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

(show top 50) (show all 60)
id Related Disease Score Top Affiliating Genes
1 baller-gerold syndrome 29.7 BLM C1QC CDC45 HELLS MAPK1 RECQL
2 rothmund-thomson syndrome type 1 12.2
3 rothmund-thomson syndrome type 2 12.2
4 atypical teratoid rhabdoid tumor 11.7
5 rubinstein-taybi syndrome 11.6
6 poikiloderma with neutropenia 11.5
7 rhabdoid cancer 11.1
8 kindler syndrome 11.0
9 rett syndrome 10.9
10 hereditary acrokeratotic poikiloderma, weary type 10.8
11 rhabdoid tumors, somatic 10.8
12 sarcoma 10.3
13 leukemia 10.2
14 breast cancer 10.2
15 coenzyme q10 deficiency, primary, 5 10.1 RECQL4 USB1
16 squamous cell carcinoma 10.1
17 calcinosis 10.1
18 bronchiectasis 10.1
19 glomerulonephritis 10.1
20 dwarfism 10.1
21 neutropenia 10.1
22 werner syndrome 10.1
23 esophagitis 10.1
24 prostatitis 10.1
25 myeloid leukemia 10.0
26 wolfram syndrome 2 10.0 BLM WRN
27 duodenitis 10.0
28 alopecia 10.0
29 tongue cancer 10.0
30 bone fracture 10.0
31 cataract 10.0
32 melanoma 10.0
33 hypogonadism 10.0
34 encephalitis 10.0
35 c1q deficiency 10.0
36 hydrocephalus 10.0
37 dyskeratosis congenita 10.0
38 growth hormone deficiency 10.0
39 myelodysplastic syndrome 10.0
40 aplastic anemia 10.0
41 lymphoma 10.0
42 porokeratosis 10.0
43 klippel-feil syndrome 10.0
44 histiocytoma 10.0
45 nasopharyngitis 10.0
46 amelanotic melanoma 10.0
47 bloom syndrome 10.0
48 fibrous histiocytoma 10.0
49 hypohidrosis 10.0
50 pancreatitis 10.0

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



Diseases related to Rothmund-Thomson Syndrome

Symptoms & Phenotypes for Rothmund-Thomson Syndrome

Symptoms by clinical synopsis from OMIM:

268400

Clinical features from OMIM:

268400

Human phenotypes related to Rothmund-Thomson Syndrome:

32 (show top 50) (show all 91)
id Description HPO Frequency HPO Source Accession
1 nausea and vomiting 32 HP:0002017
2 dry skin 32 HP:0000958
3 hypertelorism 32 HP:0000316
4 frontal bossing 32 HP:0002007
5 ptosis 32 HP:0000508
6 hypertension 32 HP:0000822
7 osteopenia 32 HP:0000938
8 intellectual disability 32 HP:0001249
9 scoliosis 32 HP:0002650
10 mandibular prognathia 32 HP:0000303
11 global developmental delay 32 HP:0001263
12 carious teeth 32 HP:0000670
13 malabsorption 32 HP:0002024
14 abnormality of the ulna 32 HP:0002997
15 short nose 32 HP:0003196
16 microcephaly 32 HP:0000252
17 sensorineural hearing impairment 32 HP:0000407
18 short stature 32 HP:0004322
19 nephropathy 32 HP:0000112
20 osteoporosis 32 HP:0000939
21 abnormality of the nail 32 HP:0001597
22 anemia 32 HP:0001903
23 micrognathia 32 HP:0000347
24 myelodysplasia 32 HP:0002863
25 abnormal blistering of the skin 32 HP:0008066
26 opacification of the corneal stroma 32 HP:0007759
27 strabismus 32 HP:0000486
28 delayed eruption of teeth 32 HP:0000684
29 short palm 32 HP:0004279
30 joint hyperflexibility 32 HP:0005692
31 epicanthus 32 HP:0000286
32 limitation of joint mobility 32 HP:0001376
33 short foot 32 HP:0001773
34 microdontia 32 HP:0000691
35 cryptorchidism 32 HP:0000028
36 abnormality of the fingernails 32 HP:0001231
37 skin ulcer 32 HP:0200042
38 hypopigmented skin patches 32 HP:0001053
39 arthrogryposis multiplex congenita 32 HP:0002804
40 hypogonadism 32 HP:0000135
41 premature graying of hair 32 HP:0002216
42 short philtrum 32 HP:0000322
43 microphthalmia 32 HP:0000568
44 deeply set eye 32 HP:0000490
45 small hand 32 HP:0200055
46 abnormality of the metacarpal bones 32 HP:0001163
47 glaucoma 32 HP:0000501
48 irregular hyperpigmentation 32 HP:0007400
49 increased number of teeth 32 HP:0011069
50 talipes equinovarus 32 HP:0001762

UMLS symptoms related to Rothmund-Thomson Syndrome:


exanthema

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 BLM RECQL RECQL4 RECQL5 WRN

MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.23 WRN BLM CDC45 HELLS MAPK1 RECQL

Drugs & Therapeutics for Rothmund-Thomson Syndrome

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


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

Interventional clinical trials:


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

Search NIH Clinical Center for Rothmund-Thomson Syndrome

Cochrane evidence based reviews: rothmund-thomson syndrome

Genetic Tests for Rothmund-Thomson Syndrome

Genetic tests related to Rothmund-Thomson Syndrome:

id Genetic test Affiliating Genes
1 Rothmund-Thomson Syndrome 29 24 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

39
Skin, Bone, Eye, Pancreas, Adrenal Gland, Tongue

Publications for Rothmund-Thomson Syndrome

Articles related to Rothmund-Thomson Syndrome:

(show top 50) (show all 163)
id Title Authors Year
1
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome. ( 28039508 )
2017
2
Generalized Metabolic Bone Disease and Fracture Risk in Rothmund-Thomson Syndrome. ( 28486640 )
2017
3
Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings. ( 28443301 )
2017
4
Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. ( 27307676 )
2016
5
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. ( 27247962 )
2016
6
Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature. ( 27463631 )
2016
7
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. ( 27287744 )
2016
8
Rothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype? ( 25751344 )
2015
9
Osteosarcoma in patients with Rothmund-Thomson syndrome. ( 25551679 )
2015
10
Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome. ( 26617641 )
2015
11
Dental management of Rothmund-Thomson syndrome with partial anodontia. ( 26032705 )
2015
12
A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome. ( 26515231 )
2015
13
Leg ulcer in a patient with Rothmund-Thomson syndrome. ( 26543707 )
2015
14
Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature. ( 25441286 )
2014
15
Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice. ( 24832598 )
2014
16
Rothmund-thomson syndrome: a 13-year follow-up. ( 25120469 )
2014
17
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. ( 24518840 )
2014
18
Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome. ( 25266359 )
2014
19
Rare skeletal abnormalities in Rothmund-Thomson syndrome: a case report. ( 25311928 )
2014
20
Rothmund-Thomson syndrome. ( 25396146 )
2014
21
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. ( 24960165 )
2014
22
Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome. ( 23001818 )
2013
23
Oral findings of rothmund-thomson syndrome. ( 24363941 )
2013
24
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. ( 24157463 )
2013
25
Clinical utility gene card for: Rothmund-Thomson syndrome. ( 23188052 )
2013
26
The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. ( 23683351 )
2013
27
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. ( 22039056 )
2012
28
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. ( 22711845 )
2012
29
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. ( 22821900 )
2012
30
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome. ( 21418107 )
2011
31
Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis. ( 21951866 )
2011
32
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. ( 20503338 )
2010
33
Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report. ( 20194333 )
2010
34
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. ( 20817924 )
2010
35
Rothmund-Thomson syndrome. ( 20113479 )
2010
36
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. ( 21143835 )
2010
37
Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair. ( 20096650 )
2010
38
Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome. ( 20860557 )
2010
39
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. ( 19299466 )
2009
40
Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. ( 19177149 )
2009
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
Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? ( 18952524 )
2008
44
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. ( 18647888 )
2008
45
Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. ( 17372760 )
2008
46
Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. ( 18346259 )
2008
47
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. ( 18755177 )
2008
48
Rothmund-thomson syndrome: more than just a cosmetic concern. ( 17686357 )
2007
49
Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. ( 17264332 )
2007
50
Short root anomaly associated with Rothmund-Thomson syndrome. ( 17178481 )
2007

Variations for Rothmund-Thomson Syndrome

ClinVar genetic disease variations for Rothmund-Thomson Syndrome:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 RECQL4 NM_004260.3(RECQL4): c.1650_1656delGGCCTGC (p.Ala551Tyrfs) deletion Pathogenic rs786200887 GRCh37 Chromosome 8, 145739874: 145739880
2 RECQL4 NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter) single nucleotide variant Pathogenic rs137853229 GRCh37 Chromosome 8, 145738796: 145738796
3 RECQL4 NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs) deletion Pathogenic rs752729755 GRCh37 Chromosome 8, 145738492: 145738493
4 RECQL4 NM_004260.3(RECQL4): c.2059-1G> T single nucleotide variant Pathogenic rs386833849 GRCh37 Chromosome 8, 145739097: 145739097
5 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic/Likely pathogenic rs386833845 GRCh37 Chromosome 8, 145740367: 145740367
6 RECQL4 NM_004260.3(RECQL4): c.1391-1G> A single nucleotide variant Pathogenic rs117642173 GRCh37 Chromosome 8, 145740627: 145740627
7 RECQL4 NM_004260.3(RECQL4): c.2059-1G> C single nucleotide variant Pathogenic rs386833849 GRCh38 Chromosome 8, 144513713: 144513713
8 RECQL4 NM_004260.3(RECQL4): c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro) deletion Pathogenic rs786200890 GRCh37 Chromosome 8, 145739446: 145739451
9 RECQL4 NM_004260.3(RECQL4): c.1704+1G> A single nucleotide variant Pathogenic rs760363252 GRCh37 Chromosome 8, 145739825: 145739825
10 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833851 GRCh37 Chromosome 8, 145738509: 145738509
11 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh37 Chromosome 8, 145738522: 145738522
12 RECQL4 NM_004260.3(RECQL4): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs794726912 GRCh37 Chromosome 8, 145743087: 145743087
13 RECQL4 NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs) deletion Pathogenic rs746636748 GRCh38 Chromosome 8, 144516070: 144516071
14 RECQL4 NM_004260.3(RECQL4): c.1259-1G> A single nucleotide variant Pathogenic rs372380880 GRCh37 Chromosome 8, 145740842: 145740842
15 RECQL4 NM_004260.3(RECQL4): c.1568delG (p.Ser523Thrfs) deletion Pathogenic rs886043102 GRCh37 Chromosome 8, 145740372: 145740372

Expression for Rothmund-Thomson Syndrome

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

Pathways for Rothmund-Thomson Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.57 BLM CDC45 RECQL RECQL4 RECQL5 WRN
3 10.95 BLM MAPK1 WRN
4 10.7 C1QC MAPK1

GO Terms for Rothmund-Thomson Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 BLM CDC45 HELLS MAPK1 RECQL RECQL4
2 chromosome GO:0005694 9.26 RECQL RECQL4 RECQL5 WRN
3 replication fork GO:0005657 9.16 BLM WRN
4 chromosome, telomeric region GO:0000781 8.8 BLM RECQL4 WRN

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.88 CDC45 HELLS MAPK1 RECQL5
2 cellular response to DNA damage stimulus GO:0006974 9.81 BLM MAPK1 RECQL5 WRN
3 DNA repair GO:0006281 9.8 BLM RECQL RECQL4 RECQL5 WRN
4 DNA replication GO:0006260 9.65 BLM CDC45 RECQL4 RECQL5 WRN
5 telomere maintenance GO:0000723 9.58 RECQL4 WRN
6 DNA metabolic process GO:0006259 9.57 RECQL5 WRN
7 base-excision repair GO:0006284 9.56 RECQL4 WRN
8 DNA synthesis involved in DNA repair GO:0000731 9.55 BLM WRN
9 DNA recombination GO:0006310 9.55 BLM RECQL RECQL4 RECQL5 WRN
10 replication fork processing GO:0031297 9.54 BLM WRN
11 DNA strand renaturation GO:0000733 9.54 BLM RECQL RECQL4
12 strand displacement GO:0000732 9.52 BLM WRN
13 telomeric D-loop disassembly GO:0061820 9.5 BLM RECQL4 WRN
14 cellular metabolic process GO:0044237 9.49 BLM WRN
15 t-circle formation GO:0090656 9.48 BLM WRN
16 G-quadruplex DNA unwinding GO:0044806 9.46 BLM WRN
17 cellular response to camptothecin GO:0072757 9.43 BLM RECQL5
18 double-strand break repair via homologous recombination GO:0000724 9.35 BLM RECQL RECQL4 RECQL5 WRN
19 DNA duplex unwinding GO:0032508 9.1 BLM CDC45 RECQL RECQL4 RECQL5 WRN

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.88 BLM RECQL RECQL5 WRN
2 helicase activity GO:0004386 9.73 BLM HELLS RECQL RECQL4 RECQL5 WRN
3 ATP-dependent DNA helicase activity GO:0004003 9.65 BLM RECQL WRN
4 oxidized purine DNA binding GO:0032357 9.63 BLM RECQL4 WRN
5 DNA helicase activity GO:0003678 9.62 BLM RECQL RECQL5 WRN
6 annealing helicase activity GO:0036310 9.61 BLM RECQL RECQL4
7 bubble DNA binding GO:0000405 9.58 BLM RECQL4 WRN
8 four-way junction DNA binding GO:0000400 9.57 BLM WRN
9 G-quadruplex DNA binding GO:0051880 9.56 BLM WRN
10 3-5 DNA helicase activity GO:0043138 9.55 CDC45 WRN
11 ATP-dependent helicase activity GO:0008026 9.55 BLM RECQL RECQL4 RECQL5 WRN
12 Y-form DNA binding GO:0000403 9.54 BLM WRN
13 telomeric D-loop binding GO:0061821 9.54 BLM RECQL4 WRN
14 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.52 BLM WRN
15 forked DNA-dependent helicase activity GO:0061749 9.49 BLM WRN
16 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.35 BLM RECQL RECQL4 RECQL5 WRN
17 four-way junction helicase activity GO:0009378 9.02 BLM RECQL RECQL4 RECQL5 WRN
18 hydrolase activity GO:0016787 10.05 BLM HELLS RECQL RECQL5 USB1 WRN
19 ATP binding GO:0005524 10.05 BLM HELLS MAPK1 RECQL RECQL4 RECQL5

Sources for Rothmund-Thomson Syndrome

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