MCID: RTH001
MIFTS: 58

Rothmund-Thomson Syndrome malady

Genetic diseases, Rare diseases, Skin diseases, Eye diseases, Fetal diseases, Cancer diseases categories

Summaries for Rothmund-Thomson Syndrome

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OMIM:45 Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper-... (268400) more...

MalaCards based summary: Rothmund-Thomson Syndrome, also known as rothmund thomson syndrome, is related to poikiloderma with neutropenia and cataract, and has symptoms including intellectual disability, congenital hip dislocation and kyphoscoliosis. 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 pancreas, 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.

NIH Rare Diseases:41 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

Wikipedia:63 Rothmund?Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma... more...

GeneReviews summary for rts

Aliases & Classifications for Rothmund-Thomson Syndrome

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Rothmund-Thomson Syndrome, Aliases & Descriptions:

Name: Rothmund-Thomson Syndrome 45 9 10 19 21 11 43 60
Rothmund Thomson Syndrome 41 20 22
Poikiloderma Atrophicans and Cataract 41 21
Poikiloderma Congenitale 41 21
Congenital Poikiloderma 9 21
 
Rts 9 21
Poikiloderma Congenitale of Rothmund-Thomson 21
Poikiloderma of Rothmund-Thomson 41
Erythrokeratodermia Variabilis 60


Classifications:



External Ids:

OMIM45 268400
Disease Ontology9 DOID:2732
MeSH33 D011038
NCIt38 C3335

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 39)
id Description Frequency HPO Source Accession
1 intellectual disability rare (5%) HP:0001249
2 congenital hip dislocation rare (5%) HP:0001374
3 kyphoscoliosis rare (5%) HP:0002751
4 autosomal recessive inheritance HP:0000007
5 cryptorchidism HP:0000028
6 hypogonadism HP:0000135
7 mandibular prognathia HP:0000303
8 microcornea HP:0000482
9 strabismus HP:0000486
10 glaucoma HP:0000501
11 microphthalmos HP:0000568
12 delayed eruption of teeth HP:0000684
13 microdontia HP:0000691
14 osteoporosis HP:0000939
15 cutaneous photosensitivity HP:0000992
16 telangiectasia HP:0001009
17 poikiloderma HP:0001029
18 anteriorly placed anus HP:0001545
19 alopecia HP:0001596
20 abnormality of the nail HP:0001597
21 annular pancreas HP:0001734
22 talipes equinovarus HP:0001762
23 short foot HP:0001773
24 frontal bossing HP:0002007
25 premature graying of hair HP:0002216
26 osteosarcoma HP:0002669
27 basal cell carcinoma HP:0002671
28 squamous cell carcinoma HP:0002860
29 short nose HP:0003196
30 short palm HP:0004279
31 short stature HP:0004322
32 dermal atrophy HP:0004334
33 agenesis of permanent teeth HP:0006349
34 forearm reduction defects HP:0006368
35 juvenile zonular cataracts HP:0007713
36 sparse hair HP:0008070
37 short thumb HP:0009778
38 increased number of teeth HP:0011069
39 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:

31
Skin, Bone, Pancreas, Tongue

Animal Models for Rothmund-Thomson Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.9BLM, MCM10, HELLS, RECQL4, CDC45
2MP:00107687.9CDC45, RECQL4, HELLS, MCM10, WRN, BLM
3MP:00053846.9CDC45, BLM, WRN, MCM10, HELLS, RECQL4

Publications for Rothmund-Thomson Syndrome

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Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 152)
idTitleAuthorsYear
1
Rothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype? (25751344)
2015
2
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. (24960165)
2014
3
Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome. (25266359)
2014
4
Rothmund-thomson syndrome: a 13-year follow-up. (25120469)
2014
5
Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature. (25441286)
2014
6
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. (24157463)
2013
7
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
8
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. (20503338)
2010
9
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (19299466)
2009
10
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. (18755177)
2008
11
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. (18504617)
2008
12
Short root anomaly associated with Rothmund-Thomson syndrome. (17178481)
2007
13
Late-onset Rothmund-Thomson syndrome. (17472679)
2007
14
Rothmund-thomson syndrome: more than just a cosmetic concern. (17686357)
2007
15
Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease. (16998609)
2006
16
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. (16214424)
2006
17
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. (15703196)
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 Variation 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

Cosmic variations for Rothmund-Thomson Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1584NRASskin,lower leg,benign melanocytic nevus,congenital1

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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Compounds for genes affiliated with Rothmund-Thomson Syndrome

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

(show all 11)
idCompoundScoreTop Affiliating Genes
18-hydroxyadenine439.8HELLS, WRN
2dttp439.7HELLS, TYMS
38-oxoguanine439.7HELLS, WRN
4camptothecin43 59 1211.7TYMS, BLM, WRN
5purine43 2410.6HELLS, TYMS
6methylmethanesulfonate439.5HELLS, WRN, BLM
7irinotecan43 49 1211.5WRN, TYMS
8cisplatin43 49 59 1212.2HELLS, WRN, TYMS
9hydroxyurea43 49 1210.9RECQL4, HELLS, WRN, BLM, TYMS
10atp43 289.9BLM, WRN, HELLS, RECQL
11magnesium43 24 1210.3BLM, WRN, HELLS, RECQL, ENOSF1

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
1nucleolusGO:00057308.0TYMS, BLM, WRN, MCM10, RECQL, RECQL5
2nucleoplasmGO:00056547.9TYMS, WRN, MCM10, RECQL5, CDC45
3cytoplasmGO:00057377.9CDC45, RECQL5, RECQL4, MCM10, BLM, TYMS
4nucleusGO:00056346.6CDC45, TYMS, BLM, USB1, MCM10, HELLS

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1replication fork processingGO:003129710.0WRN, BLM
2DNA strand renaturationGO:00007339.6BLM, RECQL4, RECQL
3DNA metabolic processGO:00062599.6RECQL5, WRN
4telomere maintenanceGO:00007239.6BLM, WRN
5regulation of transcription involved in G1/S transition of mitotic cell cycleGO:00000839.5CDC45, TYMS
6G1/S transition of mitotic cell cycleGO:00000829.1TYMS, MCM10, CDC45
7mitotic cell cycleGO:00002789.0CDC45, MCM10, TYMS
8DNA duplex unwindingGO:00325088.9BLM, WRN, RECQL4, RECQL, RECQL5
9DNA recombinationGO:00063108.9RECQL5, RECQL, RECQL4, WRN, BLM
10DNA repairGO:00062818.8RECQL5, RECQL, RECQL4, BLM, TYMS
11DNA replicationGO:00062607.8CDC45, RECQL5, RECQL, RECQL4, MCM10, WRN

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1four-way junction helicase activityGO:00093789.9WRN, BLM
2bubble DNA bindingGO:00004059.8RECQL4, WRN, BLM
3G-quadruplex DNA bindingGO:00518809.8WRN, BLM
4ATP-dependent helicase activityGO:00080269.7RECQL5, BLM
5annealing helicase activityGO:00363109.6BLM, RECQL4, RECQL
6ATP-dependent DNA helicase activityGO:00040039.6BLM, WRN, RECQL
7DNA helicase activityGO:00036789.5RECQL5, RECQL, WRN
8ATP-dependent 3-5 DNA helicase activityGO:00431409.4RECQL, RECQL4, WRN, BLM
9helicase activityGO:00043869.3BLM, WRN, HELLS
10ATP bindingGO:00055247.9BLM, WRN, HELLS, RECQL4, RECQL, RECQL5

Products for genes affiliated with Rothmund-Thomson Syndrome

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Sources for Rothmund-Thomson Syndrome

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