MCID: RTH001
MIFTS: 56

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 50 11 22 46 23 24 13 68 25 12 48 37 66
Rts 11 46 24 68
Poikiloderma Atrophicans and Cataract 46 24
Poikiloderma Congenitale 46 24
 
Congenital Poikiloderma 11 24
Poikiloderma Congenitale of Rothmund-Thomson 24
Poikiloderma of Rothmund-Thomson 46
Erythrokeratodermia Variabilis 66

Characteristics:

HPO:

62
rothmund-thomson syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 268400
Disease Ontology11 DOID:2732
ICD1028 Q82.8
MeSH37 D011038
NCIt43 C3335
MedGen35 C0032339

Summaries for Rothmund-Thomson Syndrome

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NIH Rare Diseases:46 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 Homologous DNA Pairing and Strand Exchange and Prion diseases. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are embryo and neoplasm.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper-... (268400) more...

Wikipedia:69 Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma... more...

GeneReviews summary 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 for Rothmund-Thomson Syndrome

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Symptoms by clinical synopsis from OMIM:

268400

Clinical features from OMIM:

268400

HPO human phenotypes related to Rothmund-Thomson Syndrome:

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

UMLS symptoms related to Rothmund-Thomson Syndrome:


exanthema

Drugs & Therapeutics for Rothmund-Thomson Syndrome

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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 Syndrome25 23 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

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MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.5BLM, CDC45, EP300, HELLS, MAPK1, RECQL4
2MP:00020067.2BLM, EP300, MAPK1, RECQL4, RPA1, WRN
3MP:00053845.9BLM, CDC45, EP300, HELLS, MAPK1, RECQL

Publications for Rothmund-Thomson Syndrome

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Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. (27307676)
2016
2
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. (27287744)
2016
3
Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature. (27463631)
2016
4
Rothmund-thomson syndrome: a 13-year follow-up. (25120469)
2014
5
Rothmund-Thomson syndrome. (25396146)
2014
6
Oral findings of rothmund-thomson syndrome. (24363941)
2013
7
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. (22711845)
2012
8
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. (22821900)
2012
9
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
10
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. (21143835)
2010
11
Rothmund-Thomson syndrome. (20113479)
2010
12
Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report. (20194333)
2010
13
Late-onset Rothmund-Thomson syndrome. (17472679)
2007
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
A patient with Rothmund-Thomson syndrome and all features of RAPADILINO. (15897384)
2005
17
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. (15558713)
2005
18
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. (15960976)
2005
19
Infantile glaucoma in a patient with Rothmund-Thomson syndrome. (15559657)
2004
20
A patient with Rothmund-Thomson syndrome and tongue cancer--experience of radiation toxicity. (15341442)
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
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. (11471165)
2001
23
Excision repair defect in Rothmund Thomson syndrome. (10228638)
1999
24
Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. (10552928)
1999
25
Photosensitivity and the Rothmund-Thomson syndrome. (9990387)
1998
26
Increased susceptibility to apoptosis induced by anti-Fas antibody in a Rothmund-Thomson syndrome lymphoblastoid cell line. (9625528)
1998
27
A female patient with the Rothmund-Thomson syndrome associated with anhidrosis and severe infections of the respiratory tract. (9568421)
1998
28
Osteosarcomatosis with Rothmund-Thomson syndrome. (9135453)
1997
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 13)
id Gene Variation Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.82C> T (p.Gln28Ter)single nucleotide variantPathogenicrs794726912GRCh38Chr 8, 144517703: 144517703
2RECQL4NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs)deletionPathogenicrs746636748GRCh37Chr 8, 145741454: 145741455
3RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
4RECQL4NM_004260.3(RECQL4): c.1650_1656delGGCCTGC (p.Ala551Tyrfs)deletionPathogenicrs786200887GRCh37Chr 8, 145739874: 145739880
5RECQL4NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)single nucleotide variantPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796
6RECQL4NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs)deletionPathogenicrs752729755GRCh37Chr 8, 145738492: 145738493
7RECQL4NM_004260.3(RECQL4): c.2059-1G> Tsingle nucleotide variantPathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
8RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh38Chr 8, 144514983: 144514983
9RECQL4NM_004260.3(RECQL4): c.1391-1G> Asingle nucleotide variantPathogenicrs117642173GRCh37Chr 8, 145740627: 145740627
10RECQL4NM_004260.3(RECQL4): c.2059-1G> Csingle nucleotide variantPathogenicrs386833849GRCh38Chr 8, 144513713: 144513713
11RECQL4NM_004260.3(RECQL4): c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro)deletionPathogenicrs786200890GRCh37Chr 8, 145739446: 145739451
12RECQL4NM_004260.3(RECQL4): c.1704+1G> Asingle nucleotide variantPathogenicrs760363252GRCh37Chr 8, 145739825: 145739825
13RECQL4NM_004260.3(RECQL4): c.2464-1G> Csingle nucleotide variantPathogenicrs398124117GRCh37Chr 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
1chromosomeGO:000569410.1RECQL, RECQL4, RECQL5
2nucleoplasmGO:00056546.4BLM, CDC45, EP300, MAPK1, RECQL, RECQL5
3nucleusGO:00056345.8BLM, CDC45, EP300, HELLS, MAPK1, RECQL

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1replication fork processingGO:003129710.2BLM, WRN
2DNA strand renaturationGO:000073310.1BLM, RECQL, RECQL4
3strand displacementGO:000073210.0BLM, WRN
4DNA synthesis involved in DNA repairGO:000073110.0BLM, WRN
5telomere maintenance via recombinationGO:00007229.9RPA1, WRN
6telomere maintenanceGO:00007239.8RPA1, WRN
7DNA metabolic processGO:00062599.8RECQL5, WRN
8protein sumoylationGO:00169259.7BLM, RPA1, WRN
9DNA recombinationGO:00063109.7BLM, RECQL4, RPA1
10base-excision repairGO:00062849.6RECQL4, RPA1, WRN
11double-strand break repair via homologous recombinationGO:00007249.5BLM, RECQL, RECQL5, RPA1
12DNA repairGO:00062819.0BLM, RECQL, RECQL4, RECQL5, RPA1
13regulation of signal transduction by p53 class mediatorGO:19017968.8BLM, EP300, RPA1, WRN
14regulation of cellular response to heatGO:19000348.7EP300, MAPK1, RPA1
15DNA duplex unwindingGO:00325088.6BLM, CDC45, RECQL, RECQL4, RECQL5, WRN
16DNA replicationGO:00062607.9BLM, CDC45, RECQL4, RECQL5, RPA1, WRN

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
13-5 DNA helicase activityGO:004313810.3CDC45, WRN
2annealing helicase activityGO:003631010.2BLM, RECQL, RECQL4
3G-quadruplex DNA bindingGO:005188010.1BLM, WRN
4bubble DNA bindingGO:000040510.1BLM, RECQL4, WRN
5ATP-dependent DNA helicase activityGO:00040039.9BLM, RECQL, WRN
6DNA helicase activityGO:00036789.9RECQL, RECQL5, WRN
7helicase activityGO:00043869.5BLM, HELLS, WRN
8single-stranded DNA bindingGO:00036979.5BLM, CDC45, RPA1
9four-way junction helicase activityGO:00093789.5BLM, RECQL, RECQL4, RECQL5, WRN
10ATP-dependent 3-5 DNA helicase activityGO:00431409.5BLM, RECQL, RECQL4, RECQL5, WRN
11chromatin bindingGO:00036828.3CDC45, EP300, HELLS, WRN
12ATP bindingGO:00055247.6BLM, HELLS, MAPK1, RECQL, RECQL4, RECQL5

Sources for Rothmund-Thomson Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet