RTS2
MCID: RTH006
MIFTS: 69

Rothmund-Thomson Syndrome, Type 2 (RTS2)

Categories: Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Rothmund-Thomson Syndrome, Type 2

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

Name: Rothmund-Thomson Syndrome, Type 2 57 38
Rothmund-Thomson Syndrome 57 11 24 19 42 58 75 28 12 53 5 43 14 71
Rts 11 19 42 58
Poikiloderma of Rothmund-Thomson 19 58 75
Rothmund-Thomson Syndrome Type 2 58 28 5
Rts2 57 58 73
Poikiloderma Atrophicans and Cataract 19 42
Poikiloderma Congenitale 19 42
Congenital Poikiloderma 11 42
Poikiloderma Congenitale of Rothmund-Thomson 42
Poikiloderma of Rothmund-Thomson Type 2 58
Erythrokeratodermia Variabilis 71
Rothmund-Thomson Syndrome 2 73

Characteristics:


Inheritance:

Rothmund-Thomson Syndrome, Type 2: Autosomal recessive 57
Rothmund-Thomson Syndrome Type 2: Autosomal recessive 58
Rothmund-Thomson Syndrome: Autosomal recessive 58

Prevelance:

Rothmund-Thomson Syndrome Type 2: <1/1000000 (Worldwide) 58

Age Of Onset:

Rothmund-Thomson Syndrome Type 2: Infancy,Neonatal 58
Rothmund-Thomson Syndrome: Infancy,Neonatal 58

Classifications:

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


Summaries for Rothmund-Thomson Syndrome, Type 2

MedlinePlus Genetics: 42 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 poikiloderma with neutropenia 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 (Transcription) and Disease. The drugs Orange and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are hypopigmentation of the skin and poikiloderma

Orphanet 58 Rothmund-thomson syndrome type 2: Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

Rothmund-thomson syndrome: Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.

GARD: 19 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 in the RECQL4 gene. In some cases, the genetic cause is unknown.

OMIM®: 57 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 ray defects) and/or subtle (visible only by radiographic analysis) (summary by Larizza et al., 2010). (268400) (Updated 24-Oct-2022)

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by dermatological features such as skin atrophy, pigmentation abnormalities, and telangiectasia. It is frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, hypogonadism, and an increased risk of osteosarcoma in childhood and skin cancer later in life.

Disease Ontology: 11 A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has material basis in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.

Wikipedia: 75 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 290)
# Related Disease Score Top Affiliating Genes
1 poikiloderma with neutropenia 32.3 USB1 RECQL4 FAM111B
2 baller-gerold syndrome 31.1 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
3 rapadilino syndrome 31.0 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
4 bloom syndrome 30.9 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
5 bap1 tumor predisposition syndrome 30.8 RECQL4 RECQL BRIP1 BLM
6 inherited cancer-predisposing syndrome 30.8 RECQL4 RECQL BRIP1 BLM
7 dyskeratosis congenita 30.4 WRN USB1 RECQL4 ERCC6 BRIP1
8 werner syndrome 29.6 WRN RECQL5 RECQL4 RECQL RAD52 RAD51
9 aplastic anemia 27.8 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
10 chromosome 16p13.3 deletion syndrome, proximal 11.3
11 erythrokeratoderma 11.3
12 parc syndrome 11.2
13 rett syndrome 11.1
14 rothmund-thomson syndrome, type 1 11.1
15 otopalatodigital syndrome, type i 11.0
16 atypical teratoid rhabdoid tumor 11.0
17 osteogenic sarcoma 11.0
18 malaria 10.9
19 cataract 10.9
20 skin disease 10.8
21 erythrokeratoderma ''en cocardes'' 10.8
22 hypogonadism 10.7
23 exanthem 10.7
24 photoparoxysmal response 1 10.7
25 premature aging 10.6
26 skin carcinoma 10.6
27 alopecia 10.6
28 plasmodium falciparum malaria 10.5
29 chromosomal triplication 10.5
30 dowling-degos disease 1 10.5
31 sarcoma 10.5
32 rare genetic skin disease 10.5
33 rabies 10.5
34 mosaic trisomy 8 10.5
35 anus, imperforate 10.4
36 myelodysplastic syndrome 10.4
37 neutropenia 10.4
38 telangiectasis 10.4
39 primary agammaglobulinemia 10.4
40 nail disorder, nonsyndromic congenital, 9 10.3
41 deficiency anemia 10.3
42 calcinosis 10.3
43 growth hormone deficiency 10.3
44 pertussis 10.3
45 diphtheria 10.3
46 tetanus 10.3
47 pancreas, annular 10.3
48 lymphoma, hodgkin, classic 10.3
49 aging 10.3
50 c1q deficiency 10.3

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 30 (show top 50) (show all 131)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmentation of the skin 58 30 Hallmark (90%) Occasional (29-5%)
Very frequent (99-80%)
HP:0001010
2 poikiloderma 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001029
3 hyperpigmentation of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000953
4 malar rash 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0025300
5 short stature 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
HP:0004322
6 aplasia/hypoplasia of the eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0100840
7 infertility 58 30 Frequent (33%) Frequent (79-30%)
HP:0000789
8 nail dysplasia 58 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
HP:0002164
9 sparse hair 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0008070
10 abnormal blistering of the skin 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0008066
11 sparse eyebrow 58 30 Very rare (1%) Frequent (79-30%)
HP:0045075
12 sparse eyelashes 58 30 Very rare (1%) Frequent (79-30%)
HP:0000653
13 small for gestational age 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001518
14 sparse or absent eyelashes 58 30 Frequent (33%) Frequent (79-30%)
HP:0200102
15 plantar hyperkeratosis 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0007556
16 dermal atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0004334
17 palmar hyperkeratosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0010765
18 facial erythema 58 30 Frequent (33%) Frequent (79-30%)
HP:0001041
19 multiple skeletal anomalies 58 30 Frequent (33%) Frequent (79-30%)
HP:0005775
20 reticular hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007588
21 nail dystrophy 30 Frequent (33%) HP:0008404
22 high palate 58 30 Very rare (1%) Occasional (29-5%)
HP:0000218
23 osteopenia 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000938
24 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
25 carious teeth 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000670
26 vomiting 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002013
27 anemia 58 30 Occasional (7.5%) Very rare (<4-1%)
Occasional (29-5%)
HP:0001903
28 microdontia 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000691
29 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
30 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
31 myelodysplasia 58 30 Occasional (7.5%) Very rare (<4-1%)
Occasional (29-5%)
HP:0002863
32 abnormality of immune system physiology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010978
33 telangiectasia of the skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100585
34 aplasia/hypoplasia of the skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008065
35 delayed eruption of teeth 58 30 Very rare (1%) Occasional (29-5%)
Occasional (29-5%)
HP:0000684
36 lymphoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002665
37 osteosarcoma 58 30 Very rare (1%) Occasional (29-5%)
HP:0002669
38 joint dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001373
39 short thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009778
40 neutropenia 58 30 Occasional (7.5%) Very rare (<4-1%)
Occasional (29-5%)
HP:0001875
41 genu varum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002970
42 short metacarpal 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010049
43 hypoplasia of the ulna 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003022
44 long nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003189
45 basal cell carcinoma 58 30 Occasional (7.5%) Very rare (<4-1%)
Occasional (29-5%)
HP:0002671
46 aplasia/hypoplasia of the radius 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006501
47 diarrhea 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002014
48 aplasia/hypoplasia of the patella 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006498
49 increased susceptibility to fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002659
50 functional abnormality of the gastrointestinal tract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Face:
frontal bossing
prognathism

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

Growth Height:
short stature

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 (Updated 24-Oct-2022)

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:

25 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.48 ERCC6 FAM111B
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.48 ANAPC1 BLM ERCC6 EXO1 FAM111B BRIP1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.48 BLM ERCC6 EXO1 FEN1 DNA2 ERCC3
4 no effect GR00402-S-1 10.19 ANAPC1 BLM BRIP1 ERCC3 ERCC6 EXO1
5 no effect GR00402-S-2 10.19 ANAPC1 BLM BRIP1 ERCC3 ERCC6 EXO1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.17 HELLS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.17 RAD52
8 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.17 ERCC6 RAD52
9 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.17 ERCC6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.17 DNA2 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.17 ERCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.17 RAD52
13 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.17 ERCC6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.17 HELLS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.17 ERCC6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.17 DNA2 ERCC6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-171 10.17 DNA2 RAD52
18 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.17 ERCC6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.17 ERCC6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-209 10.17 ERCC6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.17 ERCC6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.17 DNA2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-33 10.17 DNA2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.17 HELLS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.17 RAD52
26 Increased shRNA abundance (Z-score > 2) GR00366-A-62 10.17 DNA2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.17 DNA2 ERCC6 HELLS
28 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.17 DNA2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.17 HELLS RAD52
30 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.17 HELLS
31 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.17 DNA2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.85 BLM BRIP1 DNA2 ERCC3 ERCC6 EXO1
2 cellular MP:0005384 9.83 BLM BRIP1 DNA2 ERCC3 ERCC6 EXO1
3 mortality/aging MP:0010768 9.5 ANAPC1 BLM DNA2 ERCC3 ERCC6 EXO1

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 Orange Approved
2 Calcium, Dietary
3 Hormones
4
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 Completed NCT01304407
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

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

Cochrane evidence based reviews: rothmund-thomson syndrome

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 28
2 Rothmund-Thomson Syndrome Type 2 28 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome, Type 2

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

MalaCards : Skin, Bone, Eye, Pancreas, Tongue, T Cells, Prostate

Publications for Rothmund-Thomson Syndrome, Type 2

Articles related to Rothmund-Thomson Syndrome, Type 2:

(show top 50) (show all 470)
# Title Authors PMID Year
1
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. 53 62 24 57 5
20503338 2010
2
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 53 62 24 57 5
12734318 2003
3
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 62 24 57 5
10678659 2000
4
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. 53 62 57 5
10319867 1999
5
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. 62 57 5
27247962 2016
6
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. 62 57 5
12838562 2003
7
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. 62 24 57
11471165 2001
8
The mutation spectrum in RECQL4 diseases. 24 5
18716613 2009
9
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome. 62 5
29642415 2018
10
Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation. 62 5
29367366 2018
11
Rothmund-Thomson syndrome. 62 57
20113479 2010
12
A patient with Baller-Gerold syndrome and midline NK/T lymphoma. 53 62 24
19291770 2009
13
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. 53 62 24
18647888 2008
14
Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. 53 62 24
17264332 2007
15
Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome. 62 5
17250521 2007
16
Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. 53 62 24
16630167 2006
17
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. 62 5
15964893 2006
18
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. 62 57
15703196 2005
19
Variable presentation of Rothmund-Thomson syndrome. 62 57
11102924 2000
20
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome? 62 57
10826616 2000
21
Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. 62 57
8737976 1996
22
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. 62 57
7966195 1994
23
Rothmund-Thomson syndrome with osteosarcoma. 62 57
8436644 1993
24
Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. 62 57
2260560 1990
25
Rothmund-Thomson syndrome: a report of two patients and a review of the literature. 62 57
2196075 1990
26
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. 62 57
2325107 1990
27
Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. 62 57
3856492 1985
28
A Rothmund-Thomson case with hypertension. 62 57
6641003 1983
29
Rothmund-Thomson syndrome with severe dwarfism. 62 57
7352442 1980
30
POIKILODERMA CONGENITALE. REPORT OF TWO CASES. 62 57
14122096 1964
31
Thomson's syndrome (poikiloderma congenitale). 62 57
13160909 1954
32
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. 62 24
31303264 2019
33
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 5
28873162 2017
34
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. 62 24
28486640 2017
35
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. 62 24
28572264 2017
36
Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice. 62 24
24832598 2014
37
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. 62 24
21143835 2010
38
Amelanotic melanoma in a patient with Rothmund-Thomson syndrome. 62 24
18347307 2008
39
Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. 62 24
18346259 2008
40
An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis. 62 24
16681588 2006
41
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 62 24
12952869 2003
42
Rothmund-Thomson syndrome: a case report. 62 24
12374924 2002
43
Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma. 62 24
12220274 2002
44
Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. 62 24
12016592 2002
45
Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. 62 24
11737690 2001
46
Rothmund-Thomson syndrome with myelodysplasia. 62 24
11438000 2001
47
Haematological disease in siblings with Rothmund-Thomson syndrome. 62 24
10606946 1999
48
Aplastic anemia in a patient with Rothmund-Thomson syndrome. 62 24
10524463 1999
49
Rothmund-Thomson syndrome with herpes encephalitis. 62 24
10417436 1999
50
Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. 5
9878247 1998

Variations for Rothmund-Thomson Syndrome, Type 2

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

5 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RECQL4 NM_004260.4(RECQL4):c.1650_1656del (p.Ala551fs) DEL Pathogenic
6062 rs786200887 GRCh37: 8:145739874-145739880
GRCh38: 8:144514490-144514496
2 RECQL4 NM_004260.4(RECQL4):c.1391-1G>A SNV Pathogenic
6067 rs117642173 GRCh37: 8:145740627-145740627
GRCh38: 8:144515243-144515243
3 RECQL4 NM_004260.4(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro) DEL Pathogenic
6076 rs786200890 GRCh37: 8:145739446-145739451
GRCh38: 8:144514062-144514067
4 RECQL4 NM_004260.4(RECQL4):c.1704+1G>A SNV Pathogenic
6077 rs760363252 GRCh37: 8:145739825-145739825
GRCh38: 8:144514441-144514441
5 RECQL4 NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) INDEL Pathogenic
407029 rs1060501383 GRCh37: 8:145740367-145740372
GRCh38: 8:144514983-144514988
6 RECQL4 NM_004260.4(RECQL4):c.988dup (p.Ala330fs) DUP Pathogenic
1687357 GRCh37: 8:145741514-145741515
GRCh38: 8:144516130-144516131
7 RECQL4 NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter) SNV Pathogenic
561097 rs1564804479 GRCh37: 8:145741257-145741257
GRCh38: 8:144515873-144515873
8 RECQL4 NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) SNV Pathogenic
Pathogenic
Pathogenic
Pathogenic
6063 rs137853229 GRCh37: 8:145738796-145738796
GRCh38: 8:144513412-144513412
9 RECQL4 NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) MICROSAT Pathogenic
459307 rs34134064 GRCh37: 8:145741239-145741240
GRCh38: 8:144515855-144515856
10 RECQL4 NM_004260.4(RECQL4):c.1724_1725del (p.His575fs) MICROSAT Pathogenic
998012 rs1827839026 GRCh37: 8:145739726-145739727
GRCh38: 8:144514342-144514343
11 RECQL4 NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) DEL Pathogenic
6064 rs752729755 GRCh37: 8:145738492-145738493
GRCh38: 8:144513109-144513110
12 RECQL4 NM_004260.4(RECQL4):c.2059-1G>T SNV Pathogenic
Pathogenic
6065 rs386833849 GRCh37: 8:145739097-145739097
GRCh38: 8:144513713-144513713
13 RECQL4 NM_004260.4(RECQL4):c.1573del (p.Cys525fs) DEL Pathogenic
Pathogenic
Pathogenic
6066 rs386833845 GRCh37: 8:145740367-145740367
GRCh38: 8:144514983-144514983
14 RECQL4 NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) DEL Likely Pathogenic
547041 rs1554903709 GRCh37: 8:145742129-145742144
GRCh38: 8:144516745-144516760
15 RECQL4 NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) DEL Likely Pathogenic
197759 rs746636748 GRCh37: 8:145741454-145741455
GRCh38: 8:144516070-144516071
16 RECQL4 NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter) SNV Likely Pathogenic
666982 rs377589237 GRCh37: 8:145741414-145741414
GRCh38: 8:144516030-144516030
17 RECQL4 NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del) DEL Likely Pathogenic
239724 rs766312203 GRCh37: 8:145738644-145738652
GRCh38: 8:144513261-144513269
18 RECQL4 NM_004260.4(RECQL4):c.1390+1G>T SNV Likely Pathogenic
225453 rs1085307090 GRCh37: 8:145740709-145740709
GRCh38: 8:144515325-144515325
19 RECQL4 NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs) INSERT Likely Pathogenic
559921 rs1554896308 GRCh37: 8:145737393-145737394
GRCh38: 8:144512010-144512011
20 RECQL4 NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs) DEL Likely Pathogenic
559922 rs1554898257 GRCh37: 8:145738707-145738728
GRCh38: 8:144513324-144513345
21 RECQL4 NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg) SNV Likely Pathogenic
Uncertain Significance
863644 rs774274636 GRCh37: 8:145738130-145738130
GRCh38: 8:144512747-144512747
22 RECQL4 NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) DEL Likely Pathogenic
804413 rs1586821679 GRCh37: 8:145741464-145741465
GRCh38: 8:144516080-144516081
23 RECQL4 NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr) SNV Uncertain Significance
997474 rs780200030 GRCh37: 8:145737424-145737424
GRCh38: 8:144512041-144512041
24 RECQL4 NM_004260.4(RECQL4):c.865G>A (p.Ala289Thr) SNV Uncertain Significance
641612 rs200382712 GRCh37: 8:145741638-145741638
GRCh38: 8:144516254-144516254
25 RECQL4 NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr) SNV Uncertain Significance
459430 rs186739072 GRCh37: 8:145738230-145738230
GRCh38: 8:144512847-144512847
26 RECQL4 NM_004260.4(RECQL4):c.2463+5G>A SNV Uncertain Significance
572448 rs1264630646 GRCh37: 8:145738596-145738596
GRCh38: 8:144513213-144513213
27 RECQL4 NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala) SNV Uncertain Significance
407031 rs562809072 GRCh37: 8:145740621-145740621
GRCh38: 8:144515237-144515237
28 RECQL4 NM_004260.4(RECQL4):c.1637C>T (p.Pro546Leu) SNV Uncertain Significance
406987 rs377298374 GRCh37: 8:145739893-145739893
GRCh38: 8:144514509-144514509
29 RECQL4 NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His) SNV Uncertain Significance
648710 rs557256260 GRCh37: 8:145736896-145736896
GRCh38: 8:144511513-144511513
30 RECQL4 NM_004260.4(RECQL4):c.8G>T (p.Arg3Leu) SNV Uncertain Significance
407003 rs979012066 GRCh37: 8:145743161-145743161
GRCh38: 8:144517777-144517777
31 RECQL4 NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys) SNV Uncertain Significance
528945 rs368979398 GRCh37: 8:145741395-145741395
GRCh38: 8:144516011-144516011
32 RECQL4 NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp) SNV Uncertain Significance
850084 rs767337200 GRCh37: 8:145740578-145740578
GRCh38: 8:144515194-144515194
33 RECQL4 NM_004260.4(RECQL4):c.2492A>G (p.His831Arg) SNV Uncertain Significance
239734 rs754324912 GRCh37: 8:145738493-145738493
GRCh38: 8:144513110-144513110
34 RECQL4 NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu) SNV Uncertain Significance
528915 rs745453660 GRCh37: 8:145737532-145737532
GRCh38: 8:144512149-144512149
35 RECQL4 NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His) SNV Uncertain Significance
528957 rs765087683 GRCh37: 8:145737400-145737400
GRCh38: 8:144512017-144512017
36 RECQL4 NM_004260.4(RECQL4):c.2086C>T (p.Arg696Cys) SNV Uncertain Significance
Uncertain Significance
459374 rs531970883 GRCh37: 8:145739069-145739069
GRCh38: 8:144513685-144513685
37 RECQL4 NM_004260.4(RECQL4):c.215C>T (p.Ala72Val) SNV Uncertain Significance
406973 rs763453097 GRCh37: 8:145742573-145742573
GRCh38: 8:144517189-144517189
38 RECQL4 NM_004260.4(RECQL4):c.608G>A (p.Gly203Glu) SNV Uncertain Significance
406962 rs776532961 GRCh37: 8:145741895-145741895
GRCh38: 8:144516511-144516511
39 RECQL4 NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln) SNV Uncertain Significance
459403 rs770800467 GRCh37: 8:145738508-145738508
GRCh38: 8:144513125-144513125
40 RECQL4 NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser) SNV Uncertain Significance
528987 rs745571670 GRCh37: 8:145741815-145741815
GRCh38: 8:144516431-144516431
41 RECQL4 NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg) SNV Uncertain Significance
529037 rs34915097 GRCh37: 8:145737374-145737374
GRCh38: 8:144511991-144511991
42 RECQL4 NM_004260.4(RECQL4):c.2296C>T (p.Arg766Trp) SNV Uncertain Significance
658248 rs1586802958 GRCh37: 8:145738769-145738769
GRCh38: 8:144513385-144513385
43 RECQL4 NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln) SNV Uncertain Significance
847929 rs753361853 GRCh37: 8:145741967-145741967
GRCh38: 8:144516583-144516583
44 RECQL4 NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro) SNV Uncertain Significance
1036666 rs748416710 GRCh37: 8:145738792-145738792
GRCh38: 8:144513408-144513408
45 RECQL4 NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val) SNV Uncertain Significance
135172 rs587778654 GRCh37: 8:145740600-145740600
GRCh38: 8:144515216-144515216
46 RECQL4 NM_004260.4(RECQL4):c.892C>T (p.Pro298Ser) SNV Uncertain Significance
645149 rs892796827 GRCh37: 8:145741611-145741611
GRCh38: 8:144516227-144516227
47 RECQL4 NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met) SNV Uncertain Significance
528913 rs369950284 GRCh37: 8:145739086-145739086
GRCh38: 8:144513702-144513702
48 RECQL4 NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp) SNV Uncertain Significance
1341332 GRCh37: 8:145737069-145737069
GRCh38: 8:144511686-144511686
49 RECQL4 NM_004260.4(RECQL4):c.1132-8C>A SNV Uncertain Significance
459304 rs370660188 GRCh37: 8:145741282-145741282
GRCh38: 8:144515898-144515898
50 RECQL4 NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) SNV Uncertain Significance
Uncertain Significance
239693 rs202043854 GRCh37: 8:145741247-145741247
GRCh38: 8:144515863-144515863

Cosmic variations for Rothmund-Thomson Syndrome, Type 2:

8 (show top 50) (show all 4510)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM122734157 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.164G>A p.G55D 17:7674971-7674971 12
2 COSM144652296 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.469C>T p.R157* 17:7674945-7674945 12
3 COSM121899015 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.163+2T>A p.? 17:7675051-7675051 12
4 COSM145025490 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.682C>T p.R228W 17:7673821-7673821 12
5 COSM93228649 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.724T>G p.C242G 17:7674239-7674239 12
6 COSM145018520 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.461A>T p.H154L 17:7674953-7674953 12
7 COSM122271355 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.305A>G p.Y102C 17:7674262-7674262 12
8 COSM143174513 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.344T>C p.V115A 17:7673799-7673799 12
9 COSM144311933 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.520C>T p.R174* 17:7674894-7674894 12
10 COSM143950313 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.322C>T p.R108W 17:7673821-7673821 12
11 COSM112415277 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.766A>G p.T256A 17:7674197-7674197 12
12 COSM144120595 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.247T>G p.C83G 17:7674239-7674239 12
13 COSM143944164 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.340C>T p.R114C 17:7673803-7673803 12
14 COSM87923542 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.559+2T>A p.? 17:7675051-7675051 12
15 COSM144679872 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.239C>T p.A80V 17:7676013-7676013 12
16 COSM111759858 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 12
17 COSM112255322 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.637C>T p.R213* 17:7674894-7674894 12
18 COSM143372968 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.520C>T p.R174* 17:7674894-7674894 12
19 COSM142837664 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 12
20 COSM143944281 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.83-1G>A p.? 17:7674972-7674972 12
21 COSM143389462 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.418C>A p.H140N 17:7675077-7675077 12
22 COSM111760544 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.637C>T p.R213* 17:7674894-7674894 12
23 COSM145017624 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.443G>A p.G148D 17:7674971-7674971 12
24 COSM122750905 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.139C>A p.H47N 17:7675077-7675077 12
25 COSM143946062 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.160C>T p.R54* 17:7674894-7674894 12
26 COSM122288277 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.139C>A p.H47N 17:7675077-7675077 12
27 COSM144310011 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.584A>G p.Y195C 17:7674262-7674262 12
28 COSM112253591 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.560G>A p.G187D 17:7674971-7674971 12
29 COSM122271632 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.326C>T p.S109F 17:7674241-7674241 12
30 COSM143163130 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.322C>T p.R108W 17:7673821-7673821 12
31 COSM88372958 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.356C>T p.A119V 17:7676013-7676013 12
32 COSM106032612 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.356C>T p.A119V 17:7676013-7676013 12
33 COSM106452995 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.356C>T p.A119V 17:7676013-7676013 12
34 COSM143156696 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.224A>G p.Y75C 17:7674262-7674262 12
35 COSM122733941 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.305A>G p.Y102C 17:7674262-7674262 12
36 COSM144651456 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.700C>T p.R234C 17:7673803-7673803 12
37 COSM144651195 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.605C>T p.S202F 17:7674241-7674241 12
38 COSM144032663 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.526+2T>A p.? 17:7675051-7675051 12
39 COSM121876050 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.326C>T p.S109F 17:7674241-7674241 12
40 COSM144650860 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.584A>G p.Y195C 17:7674262-7674262 12
41 COSM144316293 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.555G>T p.E185D 17:7674859-7674859 12
42 COSM142850622 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.535C>A p.H179N 17:7675077-7675077 12
43 COSM88080544 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.766A>G p.T256A 17:7674197-7674197 12
44 COSM105798450 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.766A>G p.T256A 17:7674197-7674197 12
45 COSM121876485 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.421C>T p.R141C 17:7673803-7673803 12
46 COSM111766805 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.672G>T p.E224D 17:7674859-7674859 12
47 COSM106095649 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.724T>G p.C242G 17:7674239-7674239 12
48 COSM144087021 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.224A>G p.Y75C 17:7674262-7674262 12
49 COSM142844444 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.710T>A p.M237K 17:7674253-7674253 12
50 COSM122781341 TP53 skin,scalp,carcinoma,squamous cell carcinoma c.328T>G p.C110G 17:7674239-7674239 12

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 WRN TOP3A RMI2 RMI1 RAD51 EXO1
2
Show member pathways
13.71 ANAPC1 BLM BRIP1 DNA2 ERCC3 EXO1
3
Show member pathways
13.42 WRN TOP3A RMI2 RMI1 RAD51 FEN1
4
Show member pathways
12.96 BLM BRIP1 DNA2 ERCC3 ERCC6 EXO1
5
Show member pathways
12.9 WRN TOP3A RMI2 RMI1 EXO1 ERCC3
6
Show member pathways
12.68 WRN TOP3A RMI2 RMI1 EXO1 DNA2
7
Show member pathways
12.67 WRN TOP3A RMI2 RMI1 RAD52 RAD51
8
Show member pathways
12.56 BRIP1 ERCC3 ERCC6 EXO1 FEN1 RAD51
9
Show member pathways
12.4 RAD51 FEN1 ERCC6 ERCC3
10
Show member pathways
12.25 WRN TOP3A RMI2 RMI1 RAD51 EXO1
11
Show member pathways
12.24 WRN FEN1 DNA2 BLM
12
Show member pathways
12.15 WRN FEN1 DNA2 BLM
13 12.13 WRN RECQL5 RECQL4 RECQL RAD51 FEN1
14
Show member pathways
11.87 TOP3A RAD52 RAD51 EXO1 BLM
15
Show member pathways
11.64 RAD51 HELLS BLM
16 11.27 WRN TOP3A RMI1 RECQL5 RECQL4 RECQL
17 10.96 WRN FEN1
18
Show member pathways
10.9 WRN RECQL

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 nucleus GO:0005634 10.45 ANAPC1 BLM BRIP1 DNA2 ERCC3 ERCC6
2 nucleoplasm GO:0005654 10.21 ANAPC1 BLM BRIP1 DNA2 ERCC3 ERCC6
3 chromosome GO:0005694 10.1 WRN TOP3A RECQL5 RECQL4 RECQL RAD51
4 chromosome, telomeric region GO:0000781 10.03 BLM DNA2 FEN1 RAD51 RECQL4 WRN
5 RecQ family helicase-topoisomerase III complex GO:0031422 9.23 TOP3A RMI2 RMI1 BLM

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 10.25 WRN RECQL5 RAD52 RAD51 FEN1 EXO1
2 DNA recombination GO:0006310 10.22 WRN RECQL5 RECQL4 RECQL RAD52 RAD51
3 double-strand break repair GO:0006302 10.19 WRN RAD52 FEN1 BRIP1
4 telomere maintenance GO:0000723 10.18 WRN RECQL4 DNA2 BLM
5 nucleic acid phosphodiester bond hydrolysis GO:0090305 10.16 WRN USB1 FEN1 EXO1 DNA2
6 DNA unwinding involved in DNA replication GO:0006268 10.15 BLM RAD51 RECQL RECQL4 RECQL5 WRN
7 response to toxic substance GO:0009636 10.13 RAD51 ERCC6 BRIP1
8 DNA duplex unwinding GO:0032508 10.13 BLM BRIP1 DNA2 ERCC3 RECQL RECQL4
9 DNA replication GO:0006260 10.13 BLM DNA2 FAM111B FEN1 RECQL RECQL4
10 t-circle formation GO:0090656 10.1 WRN EXO1 DNA2 BLM
11 replication fork processing GO:0031297 10.09 WRN RAD51 BLM
12 telomere maintenance via semi-conservative replication GO:0032201 10.08 BLM DNA2 FEN1 WRN
13 base-excision repair GO:0006284 10.07 WRN FEN1 ERCC6 DNA2
14 response to X-ray GO:0010165 10.06 BLM ERCC6 RAD51
15 resolution of recombination intermediates GO:0071139 10.06 BLM RMI1 RMI2 TOP3A
16 DNA repair GO:0006281 10.05 BLM BRIP1 DNA2 ERCC3 ERCC6 EXO1
17 DNA metabolic process GO:0006259 10.03 WRN RECQL5 RAD51 EXO1 DNA2 BRIP1
18 telomeric D-loop disassembly GO:0061820 10.02 WRN RECQL4 BLM
19 G-quadruplex DNA unwinding GO:0044806 10.01 BLM DNA2 WRN
20 cellular response to camptothecin GO:0072757 9.99 RECQL5 RAD51 BLM
21 UV protection GO:0009650 9.95 FEN1 ERCC3
22 cellular response to hydroxyurea GO:0072711 9.95 RAD51 BLM
23 DNA double-strand break processing GO:0000729 9.94 DNA2 BLM
24 DNA topological change GO:0006265 9.94 TOP3A ERCC3
25 transcription-coupled nucleotide-excision repair GO:0006283 9.93 ERCC6 ERCC3
26 mitotic recombination GO:0006312 9.93 RAD51 RAD52
27 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.92 RAD51 RECQL5
28 chromosome separation GO:0051304 9.91 TOP3A RECQL5
29 DNA replication, removal of RNA primer GO:0043137 9.91 FEN1 DNA2
30 DNA recombinase assembly GO:0000730 9.9 RAD52 RAD51
31 nucleic acid metabolic process GO:0090304 9.74 WRN BRIP1 BLM
32 double-strand break repair via homologous recombination GO:0000724 9.66 BLM FEN1 RAD51 RAD52 RECQL RECQL4

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.59 BLM BRIP1 DNA2 ERCC3 ERCC6 HELLS
2 DNA binding GO:0003677 10.54 BLM BRIP1 DNA2 ERCC3 ERCC6 EXO1
3 chromatin binding GO:0003682 10.4 BRIP1 ERCC6 EXO1 HELLS RAD51 WRN
4 ATP hydrolysis activity GO:0016887 10.32 BLM BRIP1 DNA2 ERCC3 ERCC6 RECQL
5 nucleotide binding GO:0000166 10.22 WRN RMI1 RECQL5 RECQL4 RECQL RAD51
6 single-stranded DNA binding GO:0003697 10.21 TOP3A RAD52 RAD51 BLM
7 hydrolase activity GO:0016787 10.2 WRN USB1 RECQL5 RECQL4 RECQL HELLS
8 nucleic acid binding GO:0003676 10.18 BLM BRIP1 RAD51 RECQL RECQL4 RECQL5
9 exonuclease activity GO:0004527 10.08 WRN FEN1 EXO1
10 ATP-dependent activity, acting on DNA GO:0008094 10.07 RAD51 ERCC6 BLM
11 5'-flap endonuclease activity GO:0017108 10.01 FEN1 EXO1 DNA2
12 bubble DNA binding GO:0000405 10 WRN RECQL4 BLM
13 nuclease activity GO:0004518 9.99 WRN USB1 FEN1 EXO1 DNA2
14 telomeric D-loop binding GO:0061821 9.97 WRN RECQL4 BLM
15 four-way junction helicase activity GO:0009378 9.96 WRN RECQL5 RECQL4 RECQL BLM
16 5'-3' exonuclease activity GO:0008409 9.95 FEN1 EXO1
17 G-quadruplex DNA binding GO:0051880 9.94 WRN BLM
18 endonuclease activity GO:0004519 9.94 FEN1 EXO1 DNA2
19 RNA-DNA hybrid ribonuclease activity GO:0004523 9.93 FEN1 EXO1
20 5'-3' DNA helicase activity GO:0043139 9.93 DNA2 BRIP1
21 Y-form DNA binding GO:0000403 9.91 WRN BLM
22 DNA/DNA annealing activity GO:1990814 9.91 RECQL4 RECQL BLM
23 3'-5' DNA helicase activity GO:0043138 9.9 BLM ERCC3 RECQL RECQL4 RECQL5 WRN
24 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.88 WRN BLM
25 telomeric G-quadruplex DNA binding GO:0061849 9.88 BLM WRN
26 forked DNA-dependent helicase activity GO:0061749 9.87 WRN BLM
27 flap endonuclease activity GO:0048256 9.86 FEN1 EXO1
28 DNA helicase activity GO:0003678 9.8 WRN RECQL5 RECQL ERCC6 ERCC3 DNA2
29 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.62 BRIP1 BLM
30 helicase activity GO:0004386 9.47 WRN RECQL5 RECQL4 RECQL HELLS ERCC6

Sources for Rothmund-Thomson Syndrome, Type 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....