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 adrenal glands anomalies, skin hypoplasia/aplasia/atrophy and sarcoma. 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)
  • adrenal glands anomalies
  • skin hypoplasia/aplasia/atrophy
  • sarcoma
  • craniostenosis/craniosynostosis/sutural synostosis
  • deepset eyes/enophthalmos
  • anodontia/oligodontia/hypodontia
  • cleft lip and palate
  • external ear anomalies
  • neoplasms/tumors
  • glaucoma
  • face/facial anomalies
  • short philtrum
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • premature greying of hair
  • anomalies of eyelids, eyelashes and lacrimal system
  • joint dislocation/subluxation
  • polynuclear cells/neutrophils anomalies/neutropenia
  • thumb hypoplasia/aplasia/absence
  • monoclonal immunoglobulins/gammapathy/dysglobulinemia
  • telangiectasic erythema/poikiloderma
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • patella absent/abnormal (excluding luxation)
  • bronchial dilation/dilatation/bronchiectasia
  • cutis marmorata/marbled skin/livedo
  • abnormal fingernails
  • sacro-coccyx/sacrum anomaly
  • keratoconus/keratoglobus
  • anomalies of nose and olfaction
  • hair and scalp anomalies
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • absent/decreased/thin eyebrows
  • gastric/pyloric stenosis
  • arthrogryposis
  • myelodysplastic syndrome
  • irregular/patchy skin hypopigmentation
  • cataract/lens opacification
  • hearing loss/hypoacusia/deafness
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • anomalies of teeth and dentition
  • multiple caries
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • malabsorption/chronic diarrhea/steatorrhea
  • anomalies of bones/skeletal anomalies
  • corneal clouding/opacity/vascularisation
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hypertelorism
  • autosomal recessive inheritance
  • scoliosis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • ptosis
  • chronic arterial hypertension
  • restricted joint mobility/joint stiffness/ankylosis
  • sensorineural deafness/hearing loss
  • dry/squaly skin/exfoliation
  • chronic skin infection/ulcerations/ulcers/cancrum
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • irregular/in bands/reticular skin hyperpigmentation
  • skin photosensitivity
  • epicanthic folds
  • hyperextensible joints/articular hyperlaxity
  • anaemia
  • metacarpal anomalies/archibald's sign
  • short stature/dwarfism/nanism
  • microcephaly
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • renal disease/nephropathy
  • late puberty/hypogonadism/hypogenitalism
  • brachycephaly/flat occiput
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • frontal bossing/prominent forehead

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:00107687.3MCM10, 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

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50PubMed
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Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 143)
idTitleAuthorsYear
1
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. (24157463)
2013
2
Oral findings of rothmund-thomson syndrome. (24363941)
2013
3
Clinical utility gene card for: Rothmund-Thomson syndrome. (23188052)
2013
4
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. (22711845)
2012
5
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. (22039056)
2012
6
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. (22821900)
2012
7
Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis. (21951866)
2011
8
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
9
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. (20503338)
2010
10
Rothmund-Thomson syndrome. (20113479)
2010
11
Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report. (20194333)
2010
12
Amelanotic melanoma in a patient with Rothmund-Thomson syndrome. (18347307)
2008
13
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. (18647888)
2008
14
Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? (18952524)
2008
15
Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome. (17250521)
2007
16
Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease. (16998609)
2006
17
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. (16214424)
2006
18
RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome. (16678792)
2006
19
An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis. (16681588)
2006
20
Rothmund-Thomson syndrome in a young man without cataract involvement. (16201731)
2004
21
RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (15317757)
2004
22
Multiple airway abnormalities in a patient with Rothmund-Thomson syndrome. (15013615)
2004
23
Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation]. (12218919)
2002
24
An unusual mutation in RECQ4 gene leading to Rothmund-Thomson syndrome. (12379465)
2002
25
Rothmund-Thomson syndrome with myelodysplasia. (11438000)
2001
26
Variable presentation of Rothmund-Thomson syndrome. (11102924)
2000
27
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
28
Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. (10552928)
1999
29
Haematological disease in siblings with Rothmund-Thomson syndrome. (10606946)
1999
30
Rothmund-Thomson syndrome and tolerance of chemoradiotherapy. (9727245)
1998
31
Osteosarcomatosis with Rothmund-Thomson syndrome. (9135453)
1997
32
Rothmund-Thomson syndrome and malignant fibrous histiocytoma: a case report. (7703036)
1995
33
Rothmund-Thomson syndrome in fraternal twins. (7659639)
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
IgG4 deficiency with Rothmund-Thomson syndrome: a case report. (8319706)
1993
39
Osteogenic sarcoma and Rothmund Thomson syndrome. (1583068)
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
Rothmund-Thomson syndrome. (2352813)
1990
43
Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome). (3676086)
1987
44
Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. (3856492)
1985
45
Rothmund-Thomson syndrome (poikiloderma congenitale) associated with hydrocephalus. (7236137)
1980
46
Rothmund Thomson syndrome (poikiloderma congenita) in two sisters. (546775)
1979
47
Dental anomalies in the Rothmund-Thomson syndrome. Report of a case. (1061919)
1976
48
The Rothmund-Thomson syndrome: case report of an unusual syndrome. (5093233)
1971
49
Rothmund-Thomson syndrome: an oculocutaneous disorder. (5902033)
1966
50
Rothmund-Thomson syndrome. (5841581)
1965

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
Hide members
9.8CDC45, TYMS
2
Hide members
9.8BLM, TOP3A
3
Development Ligand-dependent activation of the ESR1/AP-1 pathway
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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

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

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:0007339.9BLM, RECQL, RECQL4
3regulation of transcription involved in G1/S transition of mitotic cell cycleGO:0000839.8TYMS, CDC45
4DNA strand elongation involved in DNA replicationGO:0062719.7GINS4, CDC45
5DNA metabolic processGO:0062599.6RECQL5, WRN
6DNA duplex unwindingGO:0325089.6WRN, RECQL5, RECQL4, RECQL
7DNA recombinationGO:0063109.4RECQL4, RECQL, BLM, WRN, RECQL5
8DNA repairGO:0062819.3BLM, TYMS, RECQL, RECQL4, RECQL5
9G1/S transition of mitotic cell cycleGO:0000829.2CDC45, TYMS, MCM10
10mitotic cell cycleGO:0002789.0MCM10, CDC45, GINS4, TYMS
11DNA replicationGO:0062608.5TYMS, RECQL5, RECQL, MCM10, CDC45, WRN

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, WRN, BLM
3G-quadruplex DNA bindingGO:0518809.9BLM, WRN
4ATP-dependent DNA helicase activityGO:0040039.8WRN, BLM, RECQL
5DNA helicase activityGO:0036789.8RECQL5, RECQL, WRN
6ATP-dependent 3-5 DNA helicase activityGO:0431409.7RECQL4, RECQL, WRN, BLM
7helicase activityGO:0043869.7HELLS, WRN, BLM
8DNA bindingGO:0036778.4RECQL, MCM10, EP300, WRN, TOP3A, HELLS
9ATP bindingGO:0055248.1RECQL, BLM, WRN, TOP3A, HELLS, 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