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

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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 exanthema, exanthema and cryptorchidism. An important gene associated with Rothmund-Thomson Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways are Apoptosis-related network due to altered Notch3 in ovarian cancer and Regulation of Telomerase. Affiliated tissues include skin, bone and eye, and related mouse 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: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... more...

GeneReviews for NBK1237

Related Diseases for Rothmund-Thomson Syndrome

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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 91)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 hypogonadism64 HP:0000135
3 mandibular prognathia64 HP:0000303
4 microcornea64 HP:0000482
5 strabismus64 HP:0000486
6 glaucoma64 HP:0000501
7 microphthalmia64 HP:0000568
8 delayed eruption of teeth64 HP:0000684
9 microdontia64 HP:0000691
10 osteoporosis64 HP:0000939
11 cutaneous photosensitivity64 HP:0000992
12 telangiectasia64 HP:0001009
13 poikiloderma64 HP:0001029
14 intellectual disability64 HP:0001249
15 congenital hip dislocation64 HP:0001374
16 anteriorly placed anus64 HP:0001545
17 alopecia64 HP:0001596
18 abnormality of the nail64 HP:0001597
19 annular pancreas64 HP:0001734
20 talipes equinovarus64 HP:0001762
21 short foot64 HP:0001773
22 frontal bossing64 HP:0002007
23 premature graying of hair64 HP:0002216
24 osteosarcoma64 HP:0002669
25 basal cell carcinoma64 HP:0002671
26 kyphoscoliosis64 HP:0002751
27 squamous cell carcinoma64 HP:0002860
28 short nose64 HP:0003196
29 short palm64 HP:0004279
30 short stature64 HP:0004322
31 dermal atrophy64 HP:0004334
32 agenesis of permanent teeth64 HP:0006349
33 forearm reduction defects64 HP:0006368
34 juvenile zonular cataracts64 HP:0007713
35 sparse hair64 HP:0008070
36 short thumb64 HP:0009778
37 increased number of teeth64 HP:0011069
38 small hand64 HP:0200055
39 nephropathy64 HP:0000112
40 oral cleft64 HP:0000202
41 microcephaly64 HP:0000252
42 epicanthus64 HP:0000286
43 hypertelorism64 HP:0000316
44 short philtrum64 HP:0000322
45 micrognathia64 HP:0000347
46 sensorineural hearing impairment64 HP:0000407
47 deeply set eye64 HP:0000490
48 ptosis64 HP:0000508
49 sparse and thin eyebrow64 HP:0000535
50 keratoconus64 HP:0000563
51 sparse eyelashes64 HP:0000653
52 carious teeth64 HP:0000670
53 hypertension64 HP:0000822
54 abnormality of the adrenal glands64 HP:0000834
55 osteopenia64 HP:0000938
56 dry skin64 HP:0000958
57 cutis marmorata64 HP:0000965
58 palmoplantar hyperkeratosis64 HP:0000972
59 hypopigmented skin patches64 HP:0001053
60 juvenile cataract64 HP:0001118
61 abnormality of corneal size64 HP:0001120
62 abnormality of the metacarpal bones64 HP:0001163
63 abnormality of the fingernails64 HP:0001231
64 global developmental delay64 HP:0001263
65 craniosynostosis64 HP:0001363
66 limitation of joint mobility64 HP:0001376
67 neutropenia64 HP:0001875
68 anemia64 HP:0001903
69 nausea and vomiting64 HP:0002017
70 pyloric stenosis64 HP:0002021
71 malabsorption64 HP:0002024
72 bronchiectasis64 HP:0002110
73 scoliosis64 HP:0002650
74 lymphoma64 HP:0002665
75 arthrogryposis multiplex congenita64 HP:0002804
76 myelodysplasia64 HP:0002863
77 abnormality of the ulna64 HP:0002997
78 patellar hypoplasia64 HP:0003065
79 abnormality of the sacrum64 HP:0005107
80 joint hyperflexibility64 HP:0005692
81 aplasia/hypoplasia of the radius64 HP:0006501
82 neoplasm of the stomach64 HP:0006753
83 irregular hyperpigmentation64 HP:0007400
84 opacification of the corneal stroma64 HP:0007759
85 abnormal blistering of the skin64 HP:0008066
86 external ear malformation64 HP:0008572
87 aplasia/hypoplasia of the thumb64 HP:0009601
88 reduced number of teeth64 HP:0009804
89 abnormal immunoglobulin level64 HP:0010701
90 erythema64 HP:0010783
91 skin ulcer64 HP:0200042

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-38.7BLM, RECQL, RECQL4, RECQL5, WRN

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.7BLM, CDC45, HELLS, MAPK1, RECQL, RECQL4

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, Dietary5713
2Bone Density Conservation Agents3376

Interventional clinical trials:

idNameStatusNCT IDPhase
1Calcium Absorption in Patients With Rothmund-Thomson SyndromeUnknown statusNCT01304407
2Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268

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, Adrenal gland, Tongue

Publications for Rothmund-Thomson Syndrome

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Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 163)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Rothmund-Thomson Syndrome:

5 (show all 15)
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
3RECQL4NM_ 004260.3(RECQL4): c.1259-1G> ASNVPathogenicrs372380880GRCh37Chr 8, 145740842: 145740842
4RECQL4NM_ 004260.3(RECQL4): c.1568delG (p.Ser523Thrfs)deletionPathogenicrs886043102GRCh37Chr 8, 145740372: 145740372
5RECQL4NM_ 004260.3(RECQL4): c.2476C> T (p.Arg826Ter)SNVPathogenic/ Likely pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
6RECQL4NM_ 004260.3(RECQL4): c.1650_ 1656delGGCCTGC (p.Ala551Tyrfs)deletionPathogenicrs786200887GRCh37Chr 8, 145739874: 145739880
7RECQL4NM_ 004260.3(RECQL4): c.2269C> T (p.Gln757Ter)SNVPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796
8RECQL4NM_ 004260.3(RECQL4): c.2492_ 2493delAT (p.His831Argfs)deletionPathogenicrs752729755GRCh37Chr 8, 145738492: 145738493
9RECQL4NM_ 004260.3(RECQL4): c.2059-1G> TSNVPathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
10RECQL4NM_ 004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionPathogenic/ Likely pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
11RECQL4NM_ 004260.3(RECQL4): c.1391-1G> ASNVPathogenicrs117642173GRCh37Chr 8, 145740627: 145740627
12RECQL4NM_ 004260.3(RECQL4): c.2059-1G> CSNVPathogenicrs386833849GRCh38Chr 8, 144513713: 144513713
13RECQL4NM_ 004260.3(RECQL4): c.1919_ 1924delTCACAG (p.Leu640_ Ala642delinsPro)deletionPathogenicrs786200890GRCh37Chr 8, 145739446: 145739451
14RECQL4NM_ 004260.3(RECQL4): c.1704+1G> ASNVPathogenicrs760363252GRCh37Chr 8, 145739825: 145739825
15RECQL4NM_ 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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Pathways related to Rothmund-Thomson Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
29.2BLM, MAPK1, WRN
39.1C1QC, MAPK1
48.1BLM, CDC45, RECQL, RECQL4, RECQL5, WRN

GO Terms for genes affiliated with Rothmund-Thomson Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1chromosome, telomeric regionGO:000078110.2BLM, RECQL4, WRN
2chromosomeGO:00056949.9RECQL, RECQL4, RECQL5, WRN
3replication forkGO:00056579.7BLM, WRN
4nucleusGO:00056346.9BLM, CDC45, HELLS, MAPK1, RECQL, RECQL4

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1base-excision repairGO:000628410.6RECQL4, WRN
2DNA metabolic processGO:000625910.5RECQL5, WRN
3cellular metabolic processGO:004423710.4BLM, WRN
4cellular response to camptothecinGO:007275710.4BLM, RECQL5
5DNA synthesis involved in DNA repairGO:000073110.3BLM, WRN
6G-quadruplex DNA unwindingGO:004480610.2BLM, WRN
7replication fork processingGO:003129710.2BLM, WRN
8strand displacementGO:000073210.2BLM, WRN
9t-circle formationGO:009065610.2BLM, WRN
10telomere maintenanceGO:000072310.1RECQL4, WRN
11DNA strand renaturationGO:000073310.0BLM, RECQL, RECQL4
12cellular response to DNA damage stimulusGO:00069749.5BLM, MAPK1, RECQL5, WRN
13telomeric D-loop disassemblyGO:00618209.4BLM, RECQL4, WRN
14DNA recombinationGO:00063109.4BLM, RECQL, RECQL4, RECQL5, WRN
15DNA repairGO:00062819.3BLM, RECQL, RECQL4, RECQL5, WRN
16double-strand break repair via homologous recombinationGO:00007249.2BLM, RECQL, RECQL4, RECQL5, WRN
17cell cycleGO:00070499.2CDC45, HELLS, MAPK1, RECQL5
18DNA replicationGO:00062609.0BLM, CDC45, RECQL4, RECQL5, WRN
19DNA duplex unwindingGO:00325088.8BLM, CDC45, RECQL, RECQL4, RECQL5, WRN

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
18-hydroxy-2-deoxyguanosine DNA bindingGO:190577310.5BLM, WRN
2forked DNA-dependent helicase activityGO:006174910.5BLM, WRN
3four-way junction DNA bindingGO:000040010.5BLM, WRN
4G-quadruplex DNA bindingGO:005188010.5BLM, WRN
53-5 DNA helicase activityGO:004313810.3CDC45, WRN
6annealing helicase activityGO:003631010.2BLM, RECQL, RECQL4
7bubble DNA bindingGO:000040510.2BLM, RECQL4, WRN
8ATP-dependent DNA helicase activityGO:000400310.1BLM, RECQL, WRN
9DNA helicase activityGO:00036789.7BLM, RECQL, RECQL5, WRN
10Y-form DNA bindingGO:00004039.7BLM, WRN
11oxidized purine DNA bindingGO:00323579.6BLM, RECQL4, WRN
12telomeric D-loop bindingGO:00618219.5BLM, RECQL4, WRN
13ATP-dependent 3-5 DNA helicase activityGO:00431409.4BLM, RECQL, RECQL4, RECQL5, WRN
14ATP-dependent helicase activityGO:00080269.4BLM, RECQL, RECQL4, RECQL5, WRN
15four-way junction helicase activityGO:00093789.4BLM, RECQL, RECQL4, RECQL5, WRN
16nucleic acid bindingGO:00036769.3BLM, RECQL, RECQL5, WRN
17helicase activityGO:00043868.9BLM, HELLS, RECQL, RECQL4, RECQL5, WRN
18hydrolase activityGO:00167878.7BLM, HELLS, RECQL, RECQL5, USB1, WRN
19ATP bindingGO:00055248.4BLM, HELLS, MAPK1, RECQL, RECQL4, RECQL5

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