RTS
MCID: RTH001
MIFTS: 67

Rothmund-Thomson Syndrome (RTS) malady

Eye diseases, Skin diseases, Fetal diseases categories

Summaries for Rothmund-Thomson Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 leukemia and baller-gerold syndrome, and has symptoms including sensorineural deafness/hearing loss, sacro-coccyx/sacrum anomaly and arthrogryposis. 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 skin, bone and eye, 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:63 Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma... more...

Description from OMIM:46 268400

GeneReviews summary for rts

Aliases & Classifications for Rothmund-Thomson Syndrome

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8Disease Ontology, 9diseasecard, 19GeneReviews, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
rothmund-thomson syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

rothmund-thomson syndrome 8 9 19 21 46 10 44 48 60
rothmund thomson syndrome 42 20 22
rts 8 21 48
poikiloderma atrophicans and cataract 42 21
poikiloderma of rothmund-thomson 42 48
poikiloderma congenitale 42 21
congenital poikiloderma 8 21
poikiloderma congenitale of rothmund-thomson 21
erythrokeratodermia variabilis 60


External Ids:

Disease Ontology8 DOID:2732
MeSH34 D011038
OMIM46 268400
NCIt39 C3335
MESH via Orphanet35 D011038
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet57 69093006
UMLS via Orphanet61 C0032339

Related Diseases for Rothmund-Thomson Syndrome

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17GeneCards, 18GeneDecks
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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 289)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia30.9TYMS, HELLS, RECQL4, EP300
2baller-gerold syndrome30.5RECQL, RECQL5, RECQL4
3neutropenia30.5TYMS, RECQL4
4werner syndrome30.5RECQL5, WRN, RECQL4, RECQL, BLM, TOP3A
5rapadilino syndrome30.3RECQL5, RECQL4, RECQL, WRN, UBR2
6bloom syndrome30.3BLM, RECQL, RECQL4, RECQL5, WRN, TOP3A
7ataxia telangiectasia29.6BLM, WRN, HELLS
8erythrokeratodermia variabilis11.1
9erythrokeratodermia variabilis et progressiva10.9
10osteosarcoma10.8
11breast cancer10.7
12sarcoma10.5
13acute leukemia10.5
14prostatitis10.5
15gjb3-related erythrokeratodermia variabilis10.5
16gjb4-related erythrokeratodermia variabilis10.5
17mednik syndrome10.5
18prostate cancer10.4
19lymph node cancer10.4
20thyroiditis10.4
21myeloid leukemia10.4
22colorectal cancer10.4
23keratoderma palmoplantaris transgrediens10.4
24calcinosis10.4
25esophagitis10.4
26glomerulonephritis10.4
27squamous cell carcinoma10.4
28dwarfism10.4
29rothmund-thomson syndrome type 110.4
30rothmund-thomson syndrome type 210.4
31hepatitis10.4
32peritonitis10.4
33acute myeloid leukemia10.3
34hepatitis a10.3
35adenocarcinoma10.3
36colon cancer10.3
37lung cancer10.3
38stroke, ischemic10.3
39influenza10.3
40localized scleroderma10.2
41scleroderma10.2
42newcastle disease10.2
43atypical teratoid rhabdoid tumor10.2
44neuroblastoma10.2
45dyskeratosis congenita10.2
46amelanotic melanoma10.2
47fibrous histiocytoma10.2
48hypohidrosis10.2
49anhidrosis10.2
50bronchiectasis10.2

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



Diseases related to rothmund-thomson syndrome

Clinical Features for Rothmund-Thomson Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

268400

Clinical synopsis from OMIM:

268400

Symptoms:

48 (show all 75)
  • 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
  • hearing loss/hypoacusia/deafness
  • anodontia/oligodontia/hypodontia
  • cleft lip and palate
  • ptosis
  • keratoconus/keratoglobus
  • glaucoma
  • craniostenosis/craniosynostosis/sutural synostosis
  • sarcoma
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • thumb hypoplasia/aplasia/absence
  • patella absent/abnormal (excluding luxation)
  • premature greying of hair
  • myelodysplastic syndrome
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • polynuclear cells/neutrophils anomalies/neutropenia
  • anaemia
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • adrenal glands anomalies
  • renal disease/nephropathy
  • chronic arterial hypertension
  • bronchial dilation/dilatation/bronchiectasia
  • malabsorption/chronic diarrhea/steatorrhea
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • gastric/pyloric stenosis
  • joint dislocation/subluxation
  • hyperextensible joints/articular hyperlaxity
  • restricted joint mobility/joint stiffness/ankylosis
  • 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
  • autosomal recessive inheritance
  • neoplasms/tumors
  • 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
  • micrognathia/retrognathia/micrognathism/retrognathism
  • corneal clouding/opacity/vascularisation
  • 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
  • scoliosis
  • external ear anomalies
  • 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
  • skin hypoplasia/aplasia/atrophy

Drugs & Therapeutics for Rothmund-Thomson Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

32
Skin, Bone, Eye, Adrenal gland, Tongue, Pancreas

Animal Models for Rothmund-Thomson Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.3UBR2, TOP3A, WRN, BLM, CDC45, EP300
2MP:00053807.2HELLS, UBR2, TOP3A, BLM, CDC45, EP300
3MP:00053846.6RECQL5, HELLS, UBR2, TOP3A, WRN, BLM

Publications for Rothmund-Thomson Syndrome

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50PubMed
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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
The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. (23683351)
2013
3
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome. (21418107)
2011
4
Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome. (20860557)
2010
5
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. (21143835)
2010
6
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (19299466)
2009
7
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. (18755177)
2008
8
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. (18504617)
2008
9
Late-onset Rothmund-Thomson syndrome. (17472679)
2007
10
Rothmund-thomson syndrome: more than just a cosmetic concern. (17686357)
2007
11
Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. (16630167)
2006
12
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. (15703196)
2005
13
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. (15558713)
2005
14
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. (15960976)
2005
15
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
16
Infantile glaucoma in a patient with Rothmund-Thomson syndrome. (15559657)
2004
17
A patient with Rothmund-Thomson syndrome and tongue cancer--experience of radiation toxicity. (15341442)
2004
18
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. (12734318)
2003
19
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
20
Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma. (12220274)
2002
21
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. (11471165)
2001
22
Corneal subepithelial nodular scarring treated with phototherapeutic keratectomy in a child with Rothmund-Thomson syndrome. (10632020)
2000
23
What syndrome is this? Rothmund-Thomson syndrome (poikiloderma congenitale). (10028003)
1999
24
Rothmund-Thomson syndrome with herpes encephalitis. (10417436)
1999
25
A female patient with the Rothmund-Thomson syndrome associated with anhidrosis and severe infections of the respiratory tract. (9568421)
1998
26
Osteogenic sarcoma associated with the Rothmund-Thomson syndrome. (9481507)
1998
27
Rothmund Thomson syndrome associated with esophageal stenosis: report of a case. (9719007)
1998
28
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. (8950673)
1996
29
Osteogenic sarcoma in the Rothmund-Thomson syndrome. (8600336)
1996
30
Rothmund-Thomson syndrome, malignant diseases, and treatment opportunities. (8721038)
1996
31
Ocular abnormalities in a patient with Rothmund-Thomson syndrome. (7629671)
1995
32
Rothmund-Thomson syndrome. (7712640)
1995
33
Rothmund-Thomson syndrome and Addison disease. (7659645)
1995
34
Rothmund-Thomson syndrome: review of the world literature. (1430398)
1992
35
Case report 760. Osteoblastic osteosarcoma (grade 4) with Rothmund-Thomson syndrome. (1465650)
1992
36
Rothmund-Thomson syndrome. (1911322)
1991
37
Rothmund-Thomson syndrome. (2018741)
1991
38
Rothmund-Thomson syndrome: a report of two patients and a review of the literature. (2196075)
1990
39
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. (2325107)
1990
40
The poikiloderma of Rothmund-Thomson syndrome: changes in Langerhans cell morphology and distribution. (2533569)
1989
41
Rothmund-Thomson syndrome: a case report. (2616389)
1989
42
Duplicate reporting of patients with Rothmund-Thomson syndrome. (2491736)
1989
43
Rothmund-Thomson syndrome. A case report, phototesting, and literature review. (3624576)
1987
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
Osteosarcoma in a boy with Rothmund-Thomson syndrome. (6932639)
1980
47
Hypogonadism and parathyroid adenoma in congenital poikiloderma (Rothmund-Thomson syndrome). (1122657)
1975
48
Rothmund-Thomson syndrome in an oriental patient. (1137282)
1975
49
Rothmund-Thomson syndrome. (5977950)
1966
50
Poikiloderma congenitale; Rothmund-Thomson syndrome. (14438710)
1959

Genetic Variations for Rothmund-Thomson Syndrome

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Expression for genes affiliated with Rothmund-Thomson Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 51QIAGEN, 4Cell Signaling Technology
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Pathways related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.8CDC45, TYMS
2
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9.8BLM, TOP3A
3
Development Ligand-dependent activation of the ESR1/AP-1 pathway
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9.6EP300, TYMS, HELLS
49.5WRN, BLM, TYMS, EP300
5
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9.3CDC45, EP300, MCM10
6
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9.3MCM10, CDC45, TYMS
7
Hide members
8.9TYMS, GINS4, CDC45, MCM10
8
Hide members
8.5RECQL5, RECQL4, RECQL, CDC45, TYMS, BLM

Compounds for genes affiliated with Rothmund-Thomson Syndrome

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44Novoseek, 24HMDB, 59Tocris Bioscience, 11DrugBank, 49PharmGKB, 28IUPHAR
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Compounds related to Rothmund-Thomson Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
18-hydroxyadenine4410.0HELLS, WRN
2thymine44 2410.9EP300, HELLS
3dttp449.9TYMS, HELLS
48-oxoguanine449.8EP300, WRN, HELLS
5camptothecin44 59 1111.6WRN, BLM, TYMS, EP300
6methylmethanesulfonate449.4HELLS, TOP3A, WRN, BLM
7cisplatin44 49 59 1112.3HELLS, WRN, TYMS, EP300
8hydroxyurea44 49 1110.9RECQL4, TYMS, BLM, WRN, TOP3A, HELLS
9atp44 289.8RECQL, EP300, BLM, WRN, HELLS
10magnesium44 11 2410.8HELLS, WRN, BLM, RECQL, ENOSF1

GO Terms for genes affiliated with Rothmund-Thomson Syndrome

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16Gene Ontology
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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet