RTS2
MCID: RTH006
MIFTS: 69

Rothmund-Thomson Syndrome, Type 2 (RTS2)

Categories: Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Rothmund-Thomson Syndrome, Type 2

MalaCards integrated aliases for Rothmund-Thomson Syndrome, Type 2:

Name: Rothmund-Thomson Syndrome, Type 2 56
Rothmund-Thomson Syndrome 56 12 74 24 52 25 58 73 36 29 13 54 6 15
Rts 12 52 25 58 73
Rothmund-Thomson Syndrome Type 2 58 29 6
Poikiloderma Atrophicans and Cataract 52 25
Poikiloderma of Rothmund-Thomson 52 58
Poikiloderma Congenitale 52 25
Congenital Poikiloderma 12 25
Rts2 56 58
Poikiloderma Congenitale of Rothmund-Thomson 25
Poikiloderma of Rothmund-Thomson Type 2 58
Rothmund-Thomson Syndrome, Type 2, 56
Syndrome, Rothmund-Thomson 39

Characteristics:

Orphanet epidemiological data:

58
rothmund-thomson syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
rothmund-thomson syndrome type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
rothmund-thomson syndrome, type 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:2732
OMIM 56 268400
OMIM Phenotypic Series 56 PS268400
KEGG 36 H01734
NCIt 49 C3335
SNOMED-CT 67 69093006
ICD10 32 Q82.8
MESH via Orphanet 44 D011038
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0032339
MedGen 41 C0032339
UMLS 71 C0032339

Summaries for Rothmund-Thomson Syndrome, Type 2

Genetics Home Reference : 25 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. Rothmund-Thomson syndrome is also characterized by sparse hair, eyebrows, and eyelashes; slow growth and small stature; abnormalities of the teeth and nails; and gastrointestinal problems in infancy, such as chronic diarrhea and vomiting. Some affected children develop a clouding of the lens of the eye (cataract), which affects vision. Many people with this disorder have skeletal abnormalities including absent or malformed bones, fused bones, and low bone mineral density (osteopenia or osteoporosis). Some of these abnormalities affect the development of bones in the forearms and the thumbs, and are known as radial ray malformations. People with Rothmund-Thomson syndrome have an increased risk of developing cancer, particularly a form of bone cancer called osteosarcoma. These bone tumors most often develop during childhood or adolescence. Several types of skin cancer, including basal cell carcinoma and squamous cell carcinoma, are also more common in people with this disorder. The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.

MalaCards based summary : Rothmund-Thomson Syndrome, Type 2, also known as rothmund-thomson syndrome, is related to rapadilino syndrome and baller-gerold syndrome, and has symptoms including exanthema An important gene associated with Rothmund-Thomson Syndrome, Type 2 is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drugs Calcium, Dietary and Calcium have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are cataract and skeletal dysplasia

NIH Rare Diseases : 52 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.

OMIM : 56 Rothmund-Thomson syndrome type 2 (RTS2) is an autosomal recessive disorder characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose, and congenital radial reay defects) and/or subtle (visible only by radiographic analysis) (summary by Larizza et al., 2010). (268400)

KEGG : 36 Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that presents with growth deficiency, photosensitivity with poikilodermatous skin changes, cataracts, early greying and loss of hair, and an increased incidence of cancer, including osteosarcoma and hematological malignancy. RTS is caused by mutations in RECQL4 helicase. RECQL4 is shown to be important protein for DNA replication, repair, and telomere maintenance.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive skin... more...

GeneReviews: NBK1237

Related Diseases for Rothmund-Thomson Syndrome, Type 2

Diseases in the Rothmund-Thomson Syndrome, Type 2 family:

Rothmund-Thomson Syndrome, Type 1

Diseases related to Rothmund-Thomson Syndrome, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1009)
# Related Disease Score Top Affiliating Genes
1 rapadilino syndrome 32.1 WRN RMI2 RMI1 RECQL5 RECQL4 RECQL
2 baller-gerold syndrome 32.1 WRN RMI2 RMI1 RECQL5 RECQL4 RECQL
3 autosomal recessive disease 31.2 WRN H2AC18 ERCC6 BLOC1S1 ATM
4 bloom syndrome 31.1 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
5 telangiectasis 30.8 RECQL4 H2AC18 ERCC6 ATM
6 dyskeratosis congenita 30.5 WRN USB1 RECQL4 H2AC18 ATM
7 hutchinson-gilford progeria syndrome 29.9 WRN HELLS H2AC18 ERCC6 ATM
8 werner syndrome 29.7 WRN RECQL5 RECQL4 RECQL RAD52 RAD51
9 familial retinoblastoma 29.6 WRN RECQL4
10 microcephaly 28.3 TOP3A RAD51 H2AC18 ERCC6 DNA2 BLM
11 atypical teratoid rhabdoid tumor 12.2
12 chromosome 16p13.3 deletion syndrome, proximal 12.0
13 poikiloderma with neutropenia 11.9
14 rhabdoid cancer 11.8
15 erythrokeratoderma 11.6
16 rhabdoid tumor predisposition syndrome 1 11.5
17 dengue disease 11.5
18 otopalatodigital syndrome, type i 11.5
19 rett syndrome 11.4
20 rothmund-thomson syndrome, type 1 11.3
21 parc syndrome 11.3
22 rubinstein-taybi syndrome 1 11.2
23 congenital toxoplasmosis 11.2
24 osteogenic sarcoma 11.0
25 cataract 11.0
26 erythrokeratoderma ''en cocardes'' 10.9
27 hypogonadism 10.8
28 exanthem 10.8
29 premature aging 10.7
30 alopecia 10.7
31 chromosomal triplication 10.7
32 dowling-degos disease 1 10.6
33 keratosis 10.6
34 rare genetic skin disease 10.6
35 mosaic trisomy 8 10.6
36 human immunodeficiency virus type 1 10.6
37 gastroenteritis 10.6
38 myelodysplastic syndrome 10.5
39 sarcoma 10.5
40 skin carcinoma 10.5
41 spindle cell sarcoma 10.5
42 severe acute respiratory syndrome 10.5
43 avian influenza 10.5
44 mouth disease 10.5
45 dengue virus 10.5
46 myeloid leukemia 10.5
47 neutropenia 10.5
48 calcinosis 10.5
49 growth hormone deficiency 10.5
50 malaria 10.5

Graphical network of the top 20 diseases related to Rothmund-Thomson Syndrome, Type 2:



Diseases related to Rothmund-Thomson Syndrome, Type 2

Symptoms & Phenotypes for Rothmund-Thomson Syndrome, Type 2

Human phenotypes related to Rothmund-Thomson Syndrome, Type 2:

58 31 (show top 50) (show all 140)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 short stature 58 31 hallmark (90%) Frequent (79-30%) HP:0004322
4 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
5 abnormal blistering of the skin 58 31 hallmark (90%) Frequent (79-30%) HP:0008066
6 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
7 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
8 prematurely aged appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0007495
9 osteosarcoma 58 31 very rare (1%) Very frequent (99-80%) HP:0002669
10 short thumb 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0009778
11 absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000561
12 sparse hair 58 31 very rare (1%) Frequent (79-30%) HP:0008070
13 basal cell carcinoma 58 31 hallmark (90%) Very frequent (99-80%),Very rare (<4-1%) HP:0002671
14 hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002984
15 squamous cell carcinoma 58 31 hallmark (90%) Very frequent (99-80%),Very rare (<4-1%) HP:0002860
16 absent eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002223
17 poikiloderma 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0001029
18 brittle hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002299
19 concave nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0011120
20 erythema 31 hallmark (90%) HP:0010783
21 hypopigmented skin patches 31 hallmark (90%) HP:0001053
22 irregular hyperpigmentation 31 hallmark (90%) HP:0007400
23 cutis marmorata 31 hallmark (90%) HP:0000965
24 dermal atrophy 31 hallmark (90%) HP:0004334
25 carious teeth 58 31 frequent (33%) Occasional (29-5%) HP:0000670
26 microdontia 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000691
27 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
28 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
29 hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000135
30 sparse eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000653
31 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
32 juvenile cataract 58 31 frequent (33%) Occasional (29-5%) HP:0001118
33 hypoplasia of teeth 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000685
34 hypertelorism 31 frequent (33%) HP:0000316
35 scoliosis 31 frequent (33%) HP:0002650
36 microcephaly 31 frequent (33%) HP:0000252
37 opacification of the corneal stroma 31 frequent (33%) HP:0007759
38 dry skin 31 frequent (33%) HP:0000958
39 micrognathia 31 frequent (33%) HP:0000347
40 epicanthus 31 frequent (33%) HP:0000286
41 external ear malformation 31 frequent (33%) HP:0008572
42 deeply set eye 31 frequent (33%) HP:0000490
43 joint hyperflexibility 31 frequent (33%) HP:0005692
44 short philtrum 31 frequent (33%) HP:0000322
45 limitation of joint mobility 31 frequent (33%) HP:0001376
46 palmoplantar hyperkeratosis 31 frequent (33%) HP:0000972
47 sparse and thin eyebrow 31 frequent (33%) HP:0000535
48 abnormal fingernail morphology 31 frequent (33%) HP:0001231
49 abnormality of corneal size 31 frequent (33%) HP:0001120
50 anemia 58 31 occasional (7.5%) Occasional (29-5%),Very rare (<4-1%) HP:0001903

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Eyes:
strabismus
glaucoma
microphthalmia
microcornea
juvenile zonular cataracts
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
alopecia
premature graying of hair
sparse hair

Neoplasia:
basal cell carcinoma
squamous cell carcinoma
osteogenic sarcoma

Abdomen Pancreas:
annular pancreas

Skeletal Limbs:
forearm reduction defects
absence of patella
hypermobile joints (rare)
restricted range of movement in some joints (rare)

Skeletal Feet:
club feet
small feet

Head And Neck Nose:
small, saddle nose

Skin Nails Hair Nails:
atrophic nails

Head And Neck Face:
frontal bossing
prognathism

Head And Neck Teeth:
microdontia
supernumerary teeth
missing teeth
delayed eruption
multiple crown malformations

Skeletal:
osteoporosis

Abdomen Gastrointestinal:
anteriorly placed anus

Endocrine Features:
hypogonadism

Skin Nails Hair Skin:
telangiectasia
skin atrophy
sun sensitivity
erythematous skin lesions in infancy
poikiloderma (atrophic plaques with telangiectasia)
more
Skeletal Hands:
hypoplastic thumbs
small hands

Skeletal Spine:
kyphoscoliosis (in some patients)

Skeletal Pelvis:
congenital hip dislocation (rare)

Neurologic Central Nervous System:
mental retardation in 5-13%

Clinical features from OMIM:

268400

UMLS symptoms related to Rothmund-Thomson Syndrome, Type 2:


exanthema

GenomeRNAi Phenotypes related to Rothmund-Thomson Syndrome, Type 2 according to GeneCards Suite gene sharing:

26 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 10 ERCC6
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10 RAD52
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10 ERCC6
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 10 ERCC6
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 10 RAD52
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 10 ERCC6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-188 10 ERCC6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-189 10 DNA2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10 DNA2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10 ERCC6
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10 ERCC6
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10 DNA2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10 RAD52
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 10 ERCC6
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10 DNA2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 10 ERCC6
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-45 10 HELLS
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-56 10 DNA2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10 RAD52
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-90 10 HELLS
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10 ERCC6
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10 HELLS
23 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.55 ERCC6
24 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.55 ATM BLM ERCC6
25 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.55 ATM BLM DNA2 ERCC6 FEN1 RAD52

MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome, Type 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 ATM BLM BLOC1S1 DNA2 ERCC6 FEN1
2 adipose tissue MP:0005375 9.8 ATM ERCC6 FEN1 HELLS RECQL4 RMI1
3 mortality/aging MP:0010768 9.8 ATM BLM BLOC1S1 DNA2 ERCC6 FEN1
4 neoplasm MP:0002006 9.23 ATM BLM DNA2 ERCC6 FEN1 RAD52

Drugs & Therapeutics for Rothmund-Thomson Syndrome, Type 2

Drugs for Rothmund-Thomson Syndrome, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcium, Dietary
2
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Calcium Absorption in Patients With Rothmund-Thomson Syndrome Unknown status NCT01304407
2 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817
3 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Rothmund-Thomson Syndrome, Type 2

Genetic Tests for Rothmund-Thomson Syndrome, Type 2

Genetic tests related to Rothmund-Thomson Syndrome, Type 2:

# Genetic test Affiliating Genes
1 Rothmund-Thomson Syndrome 29
2 Rothmund-Thomson Syndrome Type 2 29

Anatomical Context for Rothmund-Thomson Syndrome, Type 2

MalaCards organs/tissues related to Rothmund-Thomson Syndrome, Type 2:

40
Skin, Bone, Eye, Pancreas, Adrenal Gland, Tongue, Breast

Publications for Rothmund-Thomson Syndrome, Type 2

Articles related to Rothmund-Thomson Syndrome, Type 2:

(show top 50) (show all 366)
# Title Authors PMID Year
1
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. 54 61 6 56 24
20503338 2010
2
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 24 6 56 54 61
12734318 2003
3
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 61 56 6 24
10678659 2000
4
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. 54 61 56 6
10319867 1999
5
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. 6 56 61
12838562 2003
6
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. 56 24 61
11471165 2001
7
The mutation spectrum in RECQL4 diseases. 24 6
18716613 2009
8
Rothmund-Thomson syndrome. 56 61
20113479 2010
9
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. 24 54 61
19291770 2009
10
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. 61 54 24
18647888 2008
11
Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. 54 61 24
17264332 2007
12
Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. 54 61 24
16630167 2006
13
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. 6 61
15964893 2006
14
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. 61 56
15703196 2005
15
Variable presentation of Rothmund-Thomson syndrome. 56 61
11102924 2000
16
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome? 56 61
10826616 2000
17
Rothmund-Thomson Syndrome 6 61
20301415 1999
18
Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. 56 61
8737976 1996
19
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. 61 56
7966195 1994
20
Rothmund-Thomson syndrome with osteosarcoma. 61 56
8436644 1993
21
Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. 61 56
2260560 1990
22
Rothmund-Thomson syndrome: a report of two patients and a review of the literature. 56 61
2196075 1990
23
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. 61 56
2325107 1990
24
Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. 56 61
3856492 1985
25
A Rothmund-Thomson case with hypertension. 56 61
6641003 1983
26
Rothmund-Thomson syndrome with severe dwarfism. 61 56
7352442 1980
27
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. 24 61
31303264 2019
28
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. 61 24
28486640 2017
29
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. 61 24
28572264 2017
30
Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice. 24 61
24832598 2014
31
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. 24 61
21143835 2010
32
Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. 24 61
18346259 2008
33
Amelanotic melanoma in a patient with Rothmund-Thomson syndrome. 24 61
18347307 2008
34
An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis. 24 61
16681588 2006
35
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 61 24
12952869 2003
36
Rothmund-Thomson syndrome: a case report. 61 24
12374924 2002
37
Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma. 24 61
12220274 2002
38
Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. 24 61
12016592 2002
39
Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. 24 61
11737690 2001
40
Rothmund-Thomson syndrome with myelodysplasia. 24 61
11438000 2001
41
Haematological disease in siblings with Rothmund-Thomson syndrome. 24 61
10606946 1999
42
Aplastic anemia in a patient with Rothmund-Thomson syndrome. 24 61
10524463 1999
43
Rothmund-Thomson syndrome with herpes encephalitis. 24 61
10417436 1999
44
Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. 6
9878247 1998
45
Multicentric osteosarcoma, Rothmund-Thomson syndrome, and secondary nasopharyngeal non-Hodgkin's lymphoma: a case report and review of the literature. 24 61
9787328 1998
46
Rothmund-Thomson syndrome and tolerance of chemoradiotherapy. 24 61
9727245 1998
47
IgG4 deficiency with Rothmund-Thomson syndrome: a case report. 24 61
8319706 1993
48
A newly recognized syndrome of connective tissue dysplasia in siblings (previously described as a variant of Morquio disease). 56
6805033 1981
49
The dentition in Rothmund's syndrome. 56
5271915 1970
50
Cutaneous changes in the Morquio syndrome. 56
4237090 1969

Variations for Rothmund-Thomson Syndrome, Type 2

ClinVar genetic disease variations for Rothmund-Thomson Syndrome, Type 2:

6 (show top 50) (show all 52) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RECQL4 NM_004260.3(RECQL4):c.219_220AG[1] (p.Glu74fs)short repeat Pathogenic 459388 rs773325186 8:145742566-145742567 8:144517182-144517183
2 RECQL4 NM_004260.3(RECQL4):c.1149G>A (p.Trp383Ter)SNV Pathogenic 561097 rs1564804479 8:145741257-145741257 8:144515873-144515873
3 RECQL4 NM_004260.3(RECQL4):c.1650_1656del (p.Ala551fs)deletion Pathogenic 6062 rs786200887 8:145739874-145739880 8:144514490-144514496
4 RECQL4 NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter)SNV Pathogenic 6063 rs137853229 8:145738796-145738796 8:144513412-144513412
5 RECQL4 NM_004260.3(RECQL4):c.2492_2493del (p.His831fs)deletion Pathogenic 6064 rs752729755 8:145738492-145738493 8:144513109-144513110
6 RECQL4 NM_004260.3(RECQL4):c.2059-1G>TSNV Pathogenic 6065 rs386833849 8:145739097-145739097 8:144513713-144513713
7 RECQL4 NM_004260.3(RECQL4):c.1573del (p.Cys525fs)deletion Pathogenic 6066 rs386833845 8:145740367-145740367 8:144514983-144514983
8 RECQL4 NM_004260.3(RECQL4):c.1391-1G>ASNV Pathogenic 6067 rs117642173 8:145740627-145740627 8:144515243-144515243
9 RECQL4 NM_004260.3(RECQL4):c.2059-1G>CSNV Pathogenic 6069 rs386833849 8:145739097-145739097 8:144513713-144513713
10 RECQL4 NM_004260.3(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro)deletion Pathogenic 6076 rs786200890 8:145739446-145739451 8:144514062-144514067
11 RECQL4 NM_004260.3(RECQL4):c.1704+1G>ASNV Pathogenic/Likely pathogenic 6077 rs760363252 8:145739825-145739825 8:144514441-144514441
12 RECQL4 NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter)SNV Pathogenic/Likely pathogenic 666982 8:145741414-145741414 8:144516030-144516030
13 RECQL4 NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs)deletion Pathogenic/Likely pathogenic 804413 8:145741464-145741465 8:144516080-144516081
14 RECQL4 NM_004260.3(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs)insertion Likely pathogenic 559921 rs1554896308 8:145737393-145737394 8:144512010-144512011
15 RECQL4 NM_004260.3(RECQL4):c.2336_2357del (p.Asp779fs)deletion Likely pathogenic 559922 rs1554898257 8:145738707-145738728 8:144513324-144513345
16 RECQL4 NM_004260.3(RECQL4):c.1390+1G>TSNV Likely pathogenic 225453 rs1085307090 8:145740709-145740709 8:144515325-144515325
17 RECQL4 NM_004260.3(RECQL4):c.1219G>A (p.Glu407Lys)SNV Conflicting interpretations of pathogenicity 239694 rs117670586 8:145741187-145741187 8:144515803-144515803
18 RECQL4 NM_004260.3(RECQL4):c.385C>T (p.Pro129Ser)SNV Conflicting interpretations of pathogenicity 239773 rs201542692 8:145742118-145742118 8:144516734-144516734
19 RECQL4 NM_004260.3(RECQL4):c.1868G>A (p.Arg623His)SNV Conflicting interpretations of pathogenicity 135133 rs201734382 8:145739583-145739583 8:144514199-144514199
20 RECQL4 NM_004260.3(RECQL4):c.2543G>A (p.Arg848His)SNV Conflicting interpretations of pathogenicity 459412 rs368989729 8:145738442-145738442 8:144513059-144513059
21 RECQL4 NM_004260.3(RECQL4):c.3317G>A (p.Arg1106His)SNV Conflicting interpretations of pathogenicity 407023 rs34236392 8:145737370-145737370 8:144511987-144511987
22 RECQL4 NM_004260.3(RECQL4):c.3055+5G>ASNV Uncertain significance 406976 rs377031190 8:145737770-145737770 8:144512387-144512387
23 RECQL4 NM_004260.3(RECQL4):c.1886G>A (p.Arg629Gln)SNV Uncertain significance 407042 rs761794554 8:145739484-145739484 8:144514100-144514100
24 RECQL4 NM_004260.3(RECQL4):c.1460G>A (p.Arg487His)SNV Uncertain significance 407015 rs775200679 8:145740557-145740557 8:144515173-144515173
25 RECQL4 NM_004260.3(RECQL4):c.1064G>A (p.Arg355Gln)SNV Uncertain significance 407037 rs374743591 8:145741439-145741439 8:144516055-144516055
26 RECQL4 NM_004260.3(RECQL4):c.3532G>A (p.Gly1178Arg)SNV Uncertain significance 406901 rs776146178 8:145736909-145736909 8:144511526-144511526
27 RECQL4 NM_004260.3(RECQL4):c.2983T>A (p.Ser995Thr)SNV Uncertain significance 406971 rs373202723 8:145737847-145737847 8:144512464-144512464
28 RECQL4 NM_004260.3(RECQL4):c.2252G>A (p.Arg751Gln)SNV Uncertain significance 407010 rs559066300 8:145738813-145738813 8:144513429-144513429
29 RECQL4 NM_004260.3(RECQL4):c.1900G>A (p.Val634Met)SNV Uncertain significance 406918 rs747895651 8:145739470-145739470 8:144514086-144514086
30 RECQL4 NM_004260.3(RECQL4):c.1472G>A (p.Arg491Gln)SNV Uncertain significance 406983 rs777256889 8:145740545-145740545 8:144515161-144515161
31 RECQL4 NM_004260.3(RECQL4):c.2761G>A (p.Glu921Lys)SNV Uncertain significance 406917 rs371890521 8:145738149-145738149 8:144512766-144512766
32 RECQL4 NM_004260.3(RECQL4):c.2344G>A (p.Asp782Asn)SNV Uncertain significance 406939 rs758319706 8:145738720-145738720 8:144513337-144513337
33 RECQL4 NM_004260.3(RECQL4):c.539G>A (p.Ser180Asn)SNV Uncertain significance 406996 rs1060501378 8:145741964-145741964 8:144516580-144516580
34 RECQL4 NM_004260.3(RECQL4):c.20T>G (p.Val7Gly)SNV Uncertain significance 406965 rs781721739 8:145743149-145743149 8:144517765-144517765
35 RECQL4 NM_004260.3(RECQL4):c.1892G>A (p.Arg631His)SNV Uncertain significance 459352 rs771179943 8:145739478-145739478 8:144514094-144514094
36 RECQL4 NM_004260.3(RECQL4):c.1939C>G (p.Arg647Gly)SNV Uncertain significance 459358 rs775127620 8:145739431-145739431 8:144514047-144514047
37 RECQL4 NM_004260.3(RECQL4):c.1853G>A (p.Arg618Gln)SNV Uncertain significance 459346 rs776616498 8:145739598-145739598 8:144514214-144514214
38 RECQL4 NM_004260.3(RECQL4):c.1345A>C (p.Thr449Pro)SNV Uncertain significance 459315 rs535692036 8:145740755-145740755 8:144515371-144515371
39 RECQL4 NM_004260.3(RECQL4):c.2351G>A (p.Arg784Gln)SNV Uncertain significance 459395 rs536096413 8:145738713-145738713 8:144513330-144513330
40 RECQL4 NM_004260.3(RECQL4):c.3528G>A (p.Val1176=)SNV Uncertain significance 528975 rs763965257 8:145736913-145736913 8:144511530-144511530
41 RECQL4 NM_004260.3(RECQL4):c.3542G>A (p.Arg1181Gln)SNV Uncertain significance 529017 rs370069034 8:145736899-145736899 8:144511516-144511516
42 RECQL4 NM_004260.3(RECQL4):c.2486G>A (p.Arg829His)SNV Uncertain significance 529019 rs375250269 8:145738499-145738499 8:144513116-144513116
43 RECQL4 NM_004260.3(RECQL4):c.3172C>G (p.Arg1058Gly)SNV Uncertain significance 135144 rs375297971 8:145737591-145737591 8:144512208-144512208
44 RECQL4 NM_004260.3(RECQL4):c.1151G>A (p.Arg384Gln)SNV Uncertain significance 135170 rs376045624 8:145741255-145741255 8:144515871-144515871
45 RECQL4 NM_004260.3(RECQL4):c.1649C>T (p.Ala550Val)SNV Uncertain significance 212027 rs764297840 8:145739881-145739881 8:144514497-144514497
46 RECQL4 NM_004260.3(RECQL4):c.3496G>A (p.Gly1166Ser)SNV Uncertain significance 570383 rs779410033 8:145737070-145737070 8:144511687-144511687
47 RECQL4 NM_004260.3(RECQL4):c.2687T>C (p.Val896Ala)SNV Uncertain significance 576148 rs373763805 8:145738298-145738298 8:144512915-144512915
48 RECQL4 NM_004260.3(RECQL4):c.3428T>C (p.Ile1143Thr)SNV Uncertain significance 583315 rs759478327 8:145737138-145737138 8:144511755-144511755
49 RECQL4 NM_004260.3(RECQL4):c.3358G>A (p.Glu1120Lys)SNV Uncertain significance 573280 rs776023102 8:145737329-145737329 8:144511946-144511946
50 RECQL4 NM_004260.3(RECQL4):c.1570C>T (p.Pro524Ser)SNV Uncertain significance 288908 rs374965803 8:145740370-145740370 8:144514986-144514986

Cosmic variations for Rothmund-Thomson Syndrome, Type 2:

9 (show top 50) (show all 3974)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM152022165 YES1 skin,eye,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 20
2 COSM85720102 TSC1 skin,eye,carcinoma,squamous cell carcinoma c.2065C>T p.R689C 9:132903794-132903794 20
3 COSM90145852 TRAF7 skin,eye,carcinoma,squamous cell carcinoma c.349G>A p.E117K 16:2171264-2171264 20
4 COSM88173893 TP53 skin,leg,carcinoma,squamous cell carcinoma c.987C>A p.T329= 17:7673541-7673541 20
5 COSM87897745 TP53 skin,leg,carcinoma,squamous cell carcinoma c.524G>A p.R175H 17:7675088-7675088 20
6 COSM87934170 TP53 skin,leg,carcinoma,squamous cell carcinoma c.740A>T p.N247I 17:7674223-7674223 20
7 COSM88408340 TP53 skin,arm,carcinoma,basal cell carcinoma c.899C>G p.P300R 17:7673721-7673721 20
8 COSM88003733 TP53 skin,arm,carcinoma,squamous cell carcinoma c.1096T>G p.S366A 17:7670613-7670613 20
9 COSM87898351 TP53 skin,forearm,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 20
10 COSM87932688 TP53 skin,eye,carcinoma,basal cell carcinoma c.507G>A p.M169I 17:7675105-7675105 20
11 COSM87898758 TP53 skin,leg,carcinoma,squamous cell carcinoma c.707A>G p.Y236C 17:7674256-7674256 20
12 COSM87898444 TP53 skin,leg,carcinoma,squamous cell carcinoma c.536A>G p.H179R 17:7675076-7675076 20
13 COSM87898836 TP53 skin,leg,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 20
14 COSM88110060 TP53 skin,lower leg,carcinoma,basal cell carcinoma c.682G>A p.D228N 17:7674281-7674281 20
15 COSM87906799 TP53 skin,eye,carcinoma,squamous cell carcinoma c.839G>C p.R280T 17:7673781-7673781 20
16 COSM87961721 TP53 skin,leg,carcinoma,squamous cell carcinoma c.702C>A p.Y234* 17:7674261-7674261 20
17 COSM87898343 TP53 skin,arm,carcinoma,basal cell carcinoma c.829T>G p.C277G 17:7673791-7673791 20
18 COSM87933373 TP53 skin,arm,carcinoma,squamous cell carcinoma c.859G>A p.E287K 17:7673761-7673761 20
19 COSM87925339 TP53 skin,leg,carcinoma,squamous cell carcinoma c.863A>G p.N288S 17:7673757-7673757 20
20 COSM87905558 TP53 skin,eye,carcinoma,basal cell carcinoma c.425C>T p.P142L 17:7675187-7675187 20
21 COSM87952409 TP53 skin,eye,carcinoma,squamous cell carcinoma c.859G>C p.E287Q 17:7673761-7673761 20
22 COSM87897737 TP53 skin,leg,carcinoma,squamous cell carcinoma c.536A>C p.H179P 17:7675076-7675076 20
23 COSM87906542 TP53 skin,lower leg,carcinoma,basal cell carcinoma c.580C>T p.L194F 17:7674951-7674951 20
24 COSM87901804 TP53 skin,eye,carcinoma,squamous cell carcinoma c.587G>T p.R196L 17:7674944-7674944 20
25 COSM87906137 TP53 skin,leg,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 20
26 COSM96398090 STK40 skin,eye,carcinoma,squamous cell carcinoma c.1280C>T p.S427F 1:36341798-36341798 20
27 COSM99818572 SPEN skin,eye,carcinoma,squamous cell carcinoma c.9563C>T p.P3188L 1:15935803-15935803 20
28 COSM89675474 SOX2 skin,eye,carcinoma,squamous cell carcinoma c.237G>A p.W79* 3:181712597-181712597 20
29 COSM84674285 SMO skin,arm,carcinoma,basal cell carcinoma c.1604G>T p.W535L 7:129210500-129210500 20
30 COSM140185011 RNF43 skin,eye,carcinoma,squamous cell carcinoma c.866C>T p.S289F 17:58360235-58360235 20
31 COSM94496882 RAD52 skin,eye,carcinoma,squamous cell carcinoma c.779G>A p.R260Q 12:916430-916430 20
32 COSM90836104 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1093C>T p.Q365* 9:95479122-95479122 20
33 COSM90853331 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.3499G>T p.G1167W 9:95449891-95449891 20
34 COSM90854292 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1847G>A p.S616N 9:95469813-95469813 20
35 COSM90851235 PTCH1 skin,lower leg,carcinoma,basal cell carcinoma c.2713C>T p.Q905* 9:95459774-95459774 20
36 COSM90855051 PTCH1 skin,lower leg,carcinoma,basal cell carcinoma c.1993C>G p.R665G 9:95469008-95469008 20
37 COSM90840285 PTCH1 skin,arm,carcinoma,basal cell carcinoma c.1160G>A p.W387* 9:95479055-95479055 20
38 COSM90851684 PTCH1 skin,eye,carcinoma,basal cell carcinoma c.1585A>T p.K529* 9:95476776-95476776 20
39 COSM112619412 PPP6C skin,eye,carcinoma,squamous cell carcinoma c.901C>T p.R301C 9:125149801-125149801 20
40 COSM125322720 PIK3R1 skin,eye,carcinoma,squamous cell carcinoma c.608A>G p.Y203C 5:68279707-68279707 20
41 COSM88388711 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 20
42 COSM88403531 NOTCH2 skin,forearm,carcinoma,squamous cell carcinoma c.4580G>T p.C1527F 1:119923916-119923916 20
43 COSM88399190 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.3052A>G p.T1018A 1:119940686-119940686 20
44 COSM88396973 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.5449G>A p.D1817N 1:119920259-119920259 20
45 COSM88399645 NOTCH2 skin,arm,carcinoma,squamous cell carcinoma c.1294A>G p.K432E 1:119967592-119967592 20
46 COSM88393634 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.6449C>T p.P2150L 1:119916273-119916273 20
47 COSM88402353 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.3052A>C p.T1018P 1:119940686-119940686 20
48 COSM88400863 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.2867A>G p.E956G 1:119941640-119941640 20
49 COSM88403520 NOTCH2 skin,forearm,carcinoma,squamous cell carcinoma c.7246A>G p.T2416A 1:119915476-119915476 20
50 COSM88394878 NOTCH2 skin,leg,carcinoma,squamous cell carcinoma c.1652C>T p.P551L 1:119965482-119965482 20

Expression for Rothmund-Thomson Syndrome, Type 2

Search GEO for disease gene expression data for Rothmund-Thomson Syndrome, Type 2.

Pathways for Rothmund-Thomson Syndrome, Type 2

Pathways related to Rothmund-Thomson Syndrome, Type 2 according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 WRN TOP3A RMI2 RMI1 H2AC18 ERCC6
2
Show member pathways
13.26 WRN TOP3A RMI2 RMI1 RAD51 H2AC18
3
Show member pathways
13 WRN TOP3A RMI2 RMI1 RAD52 RAD51
4
Show member pathways
12.8 WRN TOP3A RMI2 RMI1 DNA2 BLM
5
Show member pathways
12.44 WRN TOP3A RMI2 RMI1 DNA2 BLM
6
Show member pathways
12.34 TOP3A RAD51 H2AC18 BLM ATM
7 12.23 WRN RECQL5 RECQL4 RECQL RAD51 FEN1
8
Show member pathways
11.91 WRN TOP3A RMI2 RMI1 RAD52 RAD51
9 11.73 TOP3A RMI2 RMI1 RAD51 BLM
10
Show member pathways
11.68 RAD51 HELLS BLM ATM
11 11.49 WRN BLM ATM
12
Show member pathways
11.45 WRN TOP3A RMI2 RMI1 RAD52 RAD51

GO Terms for Rothmund-Thomson Syndrome, Type 2

Cellular components related to Rothmund-Thomson Syndrome, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10 WRN USB1 TOP3A RMI2 RMI1 RECQL5
2 nucleus GO:0005634 9.91 WRN USB1 TOP3A RMI2 RMI1 RECQL5
3 nuclear chromosome, telomeric region GO:0000784 9.62 RAD51 FEN1 DNA2 ATM
4 PML body GO:0016605 9.58 TOP3A RAD51 BLM
5 chromosome, telomeric region GO:0000781 9.56 WRN RECQL4 BLM ATM
6 lateral element GO:0000800 9.37 RAD51 BLM
7 chromosome GO:0005694 9.23 WRN TOP3A RECQL5 RECQL4 RECQL RAD51

Biological processes related to Rothmund-Thomson Syndrome, Type 2 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.09 WRN RECQL5 RAD52 RAD51 FEN1 ERCC6
2 regulation of signal transduction by p53 class mediator GO:1901796 9.95 WRN TOP3A RMI2 RMI1 DNA2 BLM
3 DNA recombination GO:0006310 9.91 WRN RECQL5 RECQL4 RECQL RAD52 RAD51
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.89 WRN USB1 FEN1 DNA2
5 DNA duplex unwinding GO:0032508 9.87 WRN RECQL5 RECQL4 RECQL ERCC6 DNA2
6 telomere maintenance GO:0000723 9.85 WRN RECQL4 DNA2 BLM ATM
7 double-strand break repair via homologous recombination GO:0000724 9.85 WRN RMI1 RECQL5 RECQL4 RECQL RAD52
8 multicellular organism growth GO:0035264 9.82 RMI1 ERCC6 ATM
9 double-strand break repair GO:0006302 9.81 WRN RAD52 FEN1
10 base-excision repair GO:0006284 9.8 WRN FEN1 ERCC6 DNA2
11 DNA metabolic process GO:0006259 9.77 WRN RECQL5 RAD51
12 cellular response to gamma radiation GO:0071480 9.76 WRN RAD51 ATM
13 replication fork processing GO:0031297 9.75 WRN RAD51 BLM
14 response to X-ray GO:0010165 9.74 RAD51 ERCC6 BLM
15 DNA double-strand break processing GO:0000729 9.73 DNA2 BLM ATM
16 DNA unwinding involved in DNA replication GO:0006268 9.73 WRN RECQL5 RECQL4 RECQL RAD51 BLM
17 t-circle formation GO:0090656 9.72 WRN DNA2 BLM
18 telomeric D-loop disassembly GO:0061820 9.71 WRN RECQL4 BLM
19 DNA strand renaturation GO:0000733 9.7 RECQL4 RECQL BLM
20 DNA replication GO:0006260 9.7 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
21 G-quadruplex DNA unwinding GO:0044806 9.69 WRN DNA2 BLM
22 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.65 RMI2 RECQL5
23 cellular metabolic process GO:0044237 9.65 WRN BLM
24 cellular response to camptothecin GO:0072757 9.65 RECQL5 RAD51 BLM
25 cellular response to hydroxyurea GO:0072711 9.64 RAD51 BLM
26 chromosome organization involved in meiotic cell cycle GO:0070192 9.63 RAD51 ATM
27 chromosome separation GO:0051304 9.63 TOP3A RECQL5
28 mitotic recombination GO:0006312 9.62 RAD52 RAD51
29 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.62 RECQL5 RAD51
30 DNA replication, removal of RNA primer GO:0043137 9.61 FEN1 DNA2
31 DNA recombinase assembly GO:0000730 9.61 RAD52 RAD51
32 DNA repair GO:0006281 9.4 WRN RMI2 RECQL5 RECQL4 RECQL RAD52

Molecular functions related to Rothmund-Thomson Syndrome, Type 2 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.19 WRN USB1 RECQL5 RECQL4 RECQL HELLS
2 ATP binding GO:0005524 10.18 WRN RECQL5 RECQL4 RECQL RAD51 HELLS
3 DNA binding GO:0003677 10.15 WRN TOP3A RMI2 RECQL RAD52 RAD51
4 nucleotide binding GO:0000166 10.14 WRN RMI1 RECQL5 RECQL4 RECQL RAD51
5 nuclease activity GO:0004518 9.86 WRN USB1 FEN1 DNA2
6 single-stranded DNA binding GO:0003697 9.83 TOP3A RAD52 RAD51 BLM
7 helicase activity GO:0004386 9.76 WRN RECQL5 RECQL4 RECQL HELLS ERCC6
8 DNA-dependent ATPase activity GO:0008094 9.74 RAD51 ERCC6 BLM
9 3'-5' DNA helicase activity GO:0043138 9.65 WRN RECQL5 RECQL4 RECQL BLM
10 bubble DNA binding GO:0000405 9.63 WRN RECQL4 BLM
11 four-way junction DNA binding GO:0000400 9.61 WRN BLM
12 annealing helicase activity GO:0036310 9.61 RECQL4 RECQL BLM
13 single-stranded DNA-dependent ATP-dependent DNA helicase activity GO:0017116 9.6 RAD51 DNA2
14 G-quadruplex DNA binding GO:0051880 9.59 WRN BLM
15 5'-flap endonuclease activity GO:0017108 9.58 FEN1 DNA2
16 Y-form DNA binding GO:0000403 9.58 WRN BLM
17 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.55 WRN BLM
18 telomeric G-quadruplex DNA binding GO:0061849 9.54 WRN BLM
19 forked DNA-dependent helicase activity GO:0061749 9.51 WRN BLM
20 telomeric D-loop binding GO:0061821 9.5 WRN RECQL4 BLM
21 DNA helicase activity GO:0003678 9.5 WRN RECQL5 RECQL4 RECQL ERCC6 DNA2
22 four-way junction helicase activity GO:0009378 9.02 WRN RECQL5 RECQL4 RECQL BLM

Sources for Rothmund-Thomson Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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