RTS
MCID: RTH001
MIFTS: 63

Rothmund-Thomson Syndrome (RTS) malady

Eye, Skin, Fetal categories

Summaries for Rothmund-Thomson Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Rothmund-Thomson Syndrome, also known as rothmund thomson syndrome, is related to baller-gerold syndrome and werner syndrome, 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 E2F mediated regulation of DNA replication and Homologous recombination. The compounds 8-hydroxyadenine and thymine have been mentioned in the context of this disorder. Affiliated tissues include pancreas, skin and tongue, and related mouse phenotypes are mortality/aging and embryogenesis.

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

Description from OMIM:47 268400

GeneReviews summary for rts

Aliases & Classifications for Rothmund-Thomson Syndrome

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Skin


Characteristics (Orphanet epidemiological data):

49
rothmund-thomson syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rothmund-thomson syndrome 8 9 19 21 47 10 45 49 61
rothmund thomson syndrome 43 20 22
rts 8 21 49
poikiloderma atrophicans and cataract 43 21
poikiloderma of rothmund-thomson 43 49
poikiloderma congenitale 43 21
congenital poikiloderma 8 21
poikiloderma congenitale of rothmund-thomson 21
long qt syndrome, autosomal dominant 19
erythrokeratodermia variabilis 61
romano-ward long qt syndrome 19


External Ids:

Disease Ontology8 DOID:2732
MeSH35 D011038
OMIM47 268400
NCIt40 C3335
MESH via Orphanet36 D011038
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet58 69093006
UMLS via Orphanet62 C0032339

Related Diseases for Rothmund-Thomson Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 218)
idRelated DiseaseScoreTop Affiliating Genes
1baller-gerold syndrome30.6RECQL, RECQL5, RECQL4
2werner syndrome30.6RECQL5, WRN, RECQL4, RECQL, BLM, TOP3A
3rapadilino syndrome30.4RECQL5, RECQL4, RECQL, WRN, UBR2
4bloom syndrome30.3BLM, RECQL, RECQL4, RECQL5, WRN, TOP3A
5ataxia telangiectasia29.7BLM, WRN, HELLS
6erythrokeratodermia variabilis11.1
7erythrokeratodermia variabilis et progressiva10.8
8n syndrome10.7
9acute leukemia10.6
10gjb3-related erythrokeratodermia variabilis10.5
11gjb4-related erythrokeratodermia variabilis10.5
12mednik syndrome10.5
13long qt syndrome 110.5
14colorectal cancer10.5
15hepatitis d10.4
16keratoderma palmoplantaris transgrediens10.4
17squamous cell carcinoma10.4
18dwarfism10.4
19rothmund-thomson syndrome type 110.4
20rothmund-thomson syndrome type 210.4
21bone marrow cancer10.4
22acute myeloid leukemia10.4
23adenocarcinoma10.3
24acute promyelocytic leukemia10.3
25stroke, ischemic10.3
26t-cell leukemia10.3
27newcastle disease10.3
28hepatitis c10.3
29atypical teratoid rhabdoid tumor10.3
30hepatitis c virus10.3
31dyskeratosis congenita10.3
32amelanotic melanoma10.3
33fibrous histiocytoma10.3
34hypohidrosis10.3
35anhidrosis10.3
36bronchiectasis10.3
37muscular atrophy10.3
38klippel-feil syndrome10.3
39tongue cancer10.3
40porokeratosis10.3
41addison's disease10.3
42adenoma10.3
43alopecia10.3
44aplastic anemia10.3
45char syndrome10.3
46short syndrome10.3
47annular pancreas10.3
48young syndrome10.3
49growth hormone deficiency10.3
50keratoderma10.3

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



Diseases related to rothmund-thomson syndrome

Clinical Features for Rothmund-Thomson Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

268400

Clinical synopsis from OMIM:

268400

Symptoms:

49 (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

Drugs & Therapeutics for Rothmund-Thomson Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Rothmund-Thomson Syndrome

Drug clinical trials:

Search ClinicalTrials for Rothmund-Thomson Syndrome

Search NIH Clinical Center for Rothmund-Thomson Syndrome

Search CenterWatch for Rothmund-Thomson Syndrome

Genetic Tests for Rothmund-Thomson Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Rothmund-Thomson Syndrome:

id Genetic test Affiliating Genes
1 Rothmund-thomson Syndrome20 22 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

33
Pancreas, Skin, Tongue

Animal Models for Rothmund-Thomson Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.3MCM10, EP300, CDC45, BLM, WRN, TOP3A
2MP:00053807.2RECQL4, MCM10, EP300, CDC45, BLM, TOP3A
3MP:00053846.6CDC45, WRN, BLM, UBR2, EP300, MCM10

Publications for Rothmund-Thomson Syndrome

Sources:
51PubMed
See all sources

Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 143)
idTitleAuthorsYear
1
Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome. (23001818)
2013
2
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. (22711845)
2012
3
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. (22821900)
2012
4
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
5
Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome. (20860557)
2010
6
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. (21143835)
2010
7
Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report. (20194333)
2010
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
Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? (18952524)
2008
11
Rothmund-thomson syndrome: more than just a cosmetic concern. (17686357)
2007
12
Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome. (17250521)
2007
13
RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome. (16678792)
2006
14
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. (15703196)
2005
15
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. (15558713)
2005
16
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. (15960976)
2005
17
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
18
Rothmund-Thomson syndrome in a young man without cataract involvement. (16201731)
2004
19
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (15317757)
2004
20
Multiple airway abnormalities in a patient with Rothmund-Thomson syndrome. (15013615)
2004
21
Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma. (12220274)
2002
22
Rothmund-Thomson syndrome with myelodysplasia. (11438000)
2001
23
Variable presentation of Rothmund-Thomson syndrome. (11102924)
2000
24
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
25
Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. (10552928)
1999
26
Haematological disease in siblings with Rothmund-Thomson syndrome. (10606946)
1999
27
Rothmund-Thomson syndrome with herpes encephalitis. (10417436)
1999
28
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. (10319867)
1999
29
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. (8950673)
1996
30
Osteogenic sarcoma in the Rothmund-Thomson syndrome. (8600336)
1996
31
Rothmund-Thomson syndrome and malignant fibrous histiocytoma: a case report. (7703036)
1995
32
Rothmund-Thomson syndrome. (7712640)
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: review of the world literature. (1430398)
1992
37
Case report 760. Osteoblastic osteosarcoma (grade 4) with Rothmund-Thomson syndrome. (1465650)
1992
38
Rothmund-Thomson syndrome. (2018741)
1991
39
Rothmund-Thomson syndrome. (2352813)
1990
40
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. (2325107)
1990
41
Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. (2260560)
1990
42
Rothmund-Thomson syndrome: a case report. (2616389)
1989
43
Rothmund-Thomson syndrome. A case report, phototesting, and literature review. (3624576)
1987
44
Rothmund-Thomson syndrome--a report of 2 cases. (3988491)
1985
45
Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients. (7099192)
1982
46
Rothmund-Thomson syndrome (poikiloderma congenitale) associated with hydrocephalus. (7236137)
1980
47
Dental anomalies in the Rothmund-Thomson syndrome. Report of a case. (1061919)
1976
48
Hypogonadism and parathyroid adenoma in congenital poikiloderma (Rothmund-Thomson syndrome). (1122657)
1975
49
Rothmund-Thomson syndrome. (5841581)
1965
50
Poikiloderma congenitale; Rothmund-Thomson syndrome. (14438710)
1959

Genetic Variations for Rothmund-Thomson Syndrome

Expression for genes affiliated with Rothmund-Thomson Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Rothmund-Thomson Syndrome

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

Pathways for genes affiliated with Rothmund-Thomson Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 52QIAGEN, 4Cell Signaling Technology
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8CDC45, TYMS
2
Hide members
9.8BLM, TOP3A
3
Development Ligand-dependent activation of the ESR1/AP-1 pathway
Hide members
9.6EP300, HELLS, TYMS
49.5WRN, BLM, TYMS, EP300
5
Hide members
9.3MCM10, EP300, CDC45
6
Hide members
9.3MCM10, CDC45, TYMS
7
Hide members
8.9MCM10, TYMS, GINS4, CDC45
8
Hide members
8.5CDC45, WRN, BLM, TYMS, RECQL, RECQL4

Compounds for genes affiliated with Rothmund-Thomson Syndrome

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 11DrugBank, 50PharmGKB, 29IUPHAR
See all sources

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

idCompoundScoreTop Affiliating Genes
18-hydroxyadenine4510.0HELLS, WRN
2thymine45 2410.9EP300, HELLS
3dttp459.9TYMS, HELLS
48-oxoguanine459.8EP300, WRN, HELLS
5camptothecin45 60 1111.6WRN, BLM, TYMS, EP300
6methylmethanesulfonate459.4HELLS, TOP3A, WRN, BLM
7cisplatin45 50 60 1112.3HELLS, WRN, TYMS, EP300
8hydroxyurea45 50 1110.9RECQL4, TYMS, BLM, WRN, TOP3A, HELLS
9atp45 299.8RECQL, EP300, BLM, WRN, HELLS
10magnesium45 11 2410.8HELLS, WRN, BLM, RECQL, ENOSF1

GO Terms for genes affiliated with Rothmund-Thomson Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.0WRN, TYMS, GINS4, CDC45, EP300, MCM10
2nucleolusGO:0057307.5UBR2, WRN, BLM, TYMS, EP300, MCM10
3cytoplasmGO:0057377.0BLM, TYMS, GINS4, CDC45, EP300, MCM10
4nucleusGO:0056346.1RECQL5, HELLS, UBR2, USB1, TOP3A, WRN

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1replication fork processingGO:03129710.1BLM, WRN
2DNA strand renaturationGO:0007339.9RECQL4, RECQL, BLM
3regulation of transcription involved in G1/S transition of mitotic cell cycleGO:0000839.8TYMS, CDC45
4DNA strand elongation involved in DNA replicationGO:0062719.7CDC45, GINS4
5DNA metabolic processGO:0062599.6RECQL5, WRN
6DNA duplex unwindingGO:0325089.6WRN, RECQL, RECQL4, RECQL5
7DNA recombinationGO:0063109.4WRN, BLM, RECQL, RECQL4, RECQL5
8DNA repairGO:0062819.3BLM, TYMS, RECQL, RECQL4, RECQL5
9G1/S transition of mitotic cell cycleGO:0000829.2MCM10, CDC45, TYMS
10mitotic cell cycleGO:0002789.0MCM10, CDC45, GINS4, TYMS
11DNA replicationGO:0062608.5RECQL5, RECQL4, RECQL, MCM10, CDC45, TYMS

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1four-way junction helicase activityGO:00937810.1BLM, WRN
2bubble DNA bindingGO:00040510.0RECQL4, BLM, WRN
3G-quadruplex DNA bindingGO:0518809.9BLM, WRN
4ATP-dependent DNA helicase activityGO:0040039.8RECQL, BLM, WRN
5DNA helicase activityGO:0036789.8WRN, RECQL, RECQL5
6ATP-dependent 3-5 DNA helicase activityGO:0431409.7RECQL4, RECQL, BLM, WRN
7helicase activityGO:0043869.7HELLS, WRN, BLM
8DNA bindingGO:0036778.4RECQL, MCM10, EP300, WRN, TOP3A, HELLS
9ATP bindingGO:0055248.1HELLS, TOP3A, WRN, BLM, RECQL, RECQL4

Products for genes affiliated with Rothmund-Thomson Syndrome

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Sources for Rothmund-Thomson Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet