RTS2
MCID: RTH006
MIFTS: 65

Rothmund-Thomson Syndrome, Type 2 (RTS2)

Categories: 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 43 15
Rts 12 52 25 58 73
Poikiloderma Atrophicans and Cataract 52 25
Poikiloderma of Rothmund-Thomson 52 58
Rothmund-Thomson Syndrome Type 1 58 6
Rothmund-Thomson Syndrome Type 2 58 29
Poikiloderma Congenitale 52 25
Congenital Poikiloderma 12 25
Rts2 56 58
Poikiloderma Congenitale of Rothmund-Thomson 25
Poikiloderma of Rothmund-Thomson Type 1 58
Poikiloderma of Rothmund-Thomson Type 2 58
Rothmund-Thomson Syndrome, Type 2, 56
Syndrome, Rothmund-Thomson 39
Rts1 58

Characteristics:

Orphanet epidemiological data:

58
rothmund-thomson syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
rothmund-thomson syndrome type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); 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
MeSH 43 D011038
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 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 Cell Cycle, Mitotic and DNA Double-Strand Break Repair. The drugs Calcium and Hormones have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are frontal bossing and cataract

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 996)
# Related Disease Score Top Affiliating Genes
1 poikiloderma with neutropenia 33.0 USB1 RECQL4
2 baller-gerold syndrome 32.8 WRN RMI2 RMI1 RECQL5 RECQL4 RECQL
3 rapadilino syndrome 32.6 WRN RMI2 RMI1 RECQL5 RECQL4 RECQL
4 bloom syndrome 32.2 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
5 dyskeratosis congenita 31.2 WRN USB1 RECQL4 ERCC6
6 werner syndrome 30.7 WRN RECQL5 RECQL4 RECQL RAD52 RAD51
7 hutchinson-gilford progeria syndrome 30.6 WRN HELLS ERCC6
8 familial retinoblastoma 29.9 WRN RECQL4
9 atypical teratoid rhabdoid tumor 12.1
10 chromosome 16p13.3 deletion syndrome, proximal 12.0
11 rhabdoid cancer 11.8
12 obsolete: atypical teratoid/rhabdoid tumor 11.6
13 erythrokeratoderma 11.6
14 rhabdoid tumor predisposition syndrome 1 11.5
15 dengue disease 11.5
16 rett syndrome 11.4
17 rothmund-thomson syndrome, type 1 11.3
18 parc syndrome 11.3
19 rubinstein-taybi syndrome 1 11.2
20 congenital toxoplasmosis 11.2
21 osteogenic sarcoma 11.0
22 cataract 11.0
23 autosomal recessive disease 10.9
24 erythrokeratoderma ''en cocardes'' 10.9
25 hypogonadism 10.8
26 hypogonadotropism 10.8
27 exanthem 10.8
28 premature aging 10.7
29 alopecia 10.7
30 chromosomal triplication 10.7
31 dowling-degos disease 1 10.6
32 keratosis 10.6
33 rare genetic skin disease 10.6
34 mosaic trisomy 8 10.6
35 human immunodeficiency virus type 1 10.6
36 gastroenteritis 10.6
37 myelodysplastic syndrome 10.5
38 sarcoma 10.5
39 telangiectasis 10.5
40 skin carcinoma 10.5
41 spindle cell sarcoma 10.5
42 avian influenza 10.5
43 mouth disease 10.5
44 mosaic variegated aneuploidy syndrome 2 10.5 RECQL5 RECQL
45 dengue virus 10.5
46 neutropenia 10.5
47 calcinosis 10.5
48 growth hormone deficiency 10.5
49 breast cancer 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 118)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0002007
2 cataract 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000518
3 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
4 abnormality of the dentition 58 31 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000164
5 short stature 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
6 absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000561
7 absent eyebrow 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002223
8 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000982
9 nail dystrophy 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0008404
10 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
11 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000992
12 erythema 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010783
13 concave nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0011120
14 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001053
15 growth delay 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001510
16 prematurely aged appearance 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007495
17 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
18 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001006
19 osteosarcoma 58 31 very rare (1%) Frequent (79-30%),Very frequent (99-80%) HP:0002669
20 short thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009778
21 basal cell carcinoma 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002671
22 cutis marmorata 58 31 hallmark (90%) Very frequent (99-80%) HP:0000965
23 hypoplasia of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002984
24 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
25 squamous cell carcinoma 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002860
26 poikiloderma 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001029
27 brittle hair 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002299
28 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004334
29 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
30 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
31 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
32 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
33 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
34 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
35 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
36 opacification of the corneal stroma 58 31 frequent (33%) Frequent (79-30%) HP:0007759
37 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
38 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
39 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
40 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
41 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
42 hypogonadism 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0000135
43 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
44 sparse eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000653
45 palmoplantar hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000972
46 juvenile cataract 58 31 frequent (33%) Frequent (79-30%) HP:0001118
47 hypoplasia of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000685
48 abnormality of corneal size 58 31 frequent (33%) Frequent (79-30%) HP:0001120
49 small for gestational age 31 frequent (33%) HP:0001518
50 sparse and thin eyebrow 31 frequent (33%) HP:0000535

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
frontal bossing
prognathism

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal:
osteoporosis

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

Abdomen Gastrointestinal:
anteriorly placed anus

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

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

Head And Neck Eyes:
strabismus
microphthalmia
glaucoma
microcornea
juvenile zonular cataracts
more
Endocrine Features:
hypogonadism

Neoplasia:
basal cell carcinoma
squamous cell carcinoma
osteogenic sarcoma

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 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.23 HELLS
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.23 ERCC6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.23 RAD52
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.23 ERCC6 RAD52
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.23 ERCC6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.23 DNA2 ERCC6
7 Increased shRNA abundance (Z-score > 2) GR00366-A-136 10.23 ERCC6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.23 ERCC6 RAD52
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.23 HELLS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.23 ERCC6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.23 ERCC6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.23 DNA2 ERCC6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-188 10.23 ERCC6
14 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.23 DNA2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.23 ERCC6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.23 ERCC6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.23 ERCC6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.23 RAD52
19 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.23 ERCC6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.23 ERCC6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.23 DNA2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.23 ERCC6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.23 HELLS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.23 HELLS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.23 RAD52
26 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.23 DNA2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-77 10.23 DNA2 ERCC6 HELLS RAD52
28 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.23 DNA2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.23 HELLS RAD52
30 Increased shRNA abundance (Z-score > 2) GR00366-A-90 10.23 HELLS
31 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.44 BLM DNA2 ERCC6 FEN1 RAD51 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 BLM BLOC1S1 DNA2 ERCC6 FEN1 HELLS
2 mortality/aging MP:0010768 9.8 ANAPC1 BLM BLOC1S1 DNA2 ERCC6 FEN1
3 neoplasm MP:0002006 9.17 BLM DNA2 ERCC6 FEN1 RAD52 RECQL4

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 Approved, Nutraceutical 7440-70-2 271
2 Hormones
3 Calcium, Dietary

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

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 29
2 Rothmund-Thomson Syndrome Type 2 29 RECQL4

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 358)
# Title Authors PMID Year
1
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. 24 61 54 6 56
20503338 2010
2
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 6 24 56 54 61
12734318 2003
3
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. 24 6 56 61 54
10319867 1999
4
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 6 56 24 61
10678659 2000
5
RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. 61 6 56
12838562 2003
6
Rothmund-Thomson syndrome. 56 24 61
20113479 2010
7
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. 24 56 61
11471165 2001
8
The mutation spectrum in RECQL4 diseases. 6 24
18716613 2009
9
Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. 24 6
9878247 1998
10
Direct and indirect roles of RECQL4 in modulating base excision repair capacity. 24 54 61
19567405 2009
11
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. 54 24 61
18647888 2008
12
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. 61 54 24
18504617 2008
13
Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. 24 61 54
17264332 2007
14
Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. 24 54 61
16630167 2006
15
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. 6 61
15964893 2006
16
Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. 24 61 54
15960976 2005
17
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. 56 61
15703196 2005
18
Variable presentation of Rothmund-Thomson syndrome. 61 56
11102924 2000
19
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome? 56 61
10826616 2000
20
Rothmund-Thomson Syndrome 61 6
20301415 1999
21
Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism. 56 61
8737976 1996
22
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. 61 56
7966195 1994
23
Rothmund-Thomson syndrome with osteosarcoma. 61 56
8436644 1993
24
Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. 61 56
2260560 1990
25
Rothmund-Thomson syndrome: a report of two patients and a review of the literature. 61 56
2196075 1990
26
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. 56 61
2325107 1990
27
Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome. 61 56
3856492 1985
28
A Rothmund-Thomson case with hypertension. 56 61
6641003 1983
29
Rothmund-Thomson syndrome with severe dwarfism. 61 56
7352442 1980
30
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. 24 61
28486640 2017
31
RECQL4 Regulates p53 Function In Vivo During Skeletogenesis. 24 61
25556649 2015
32
The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation. 24 61
25859855 2015
33
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. 24 61
24960165 2014
34
Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice. 61 24
24832598 2014
35
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. 24 61
22039056 2012
36
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. 61 24
21143835 2010
37
The involvement of human RECQL4 in DNA double-strand break repair. 61 24
20222902 2010
38
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. 24 61
18755177 2008
39
Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. 24 61
18346259 2008
40
Amelanotic melanoma in a patient with Rothmund-Thomson syndrome. 24 61
18347307 2008
41
Possible involvement of RecQL4 in the repair of double-strand DNA breaks in Xenopus egg extracts. 61 24
17320201 2007
42
An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis. 24 61
16681588 2006
43
Rothmund-Thomson syndrome: a case report. 24 61
12374924 2002
44
Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma. 24 61
12220274 2002
45
Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. 61 24
12016592 2002
46
Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. 61 24
11737690 2001
47
Rothmund-Thomson syndrome with myelodysplasia. 24 61
11438000 2001
48
Haematological disease in siblings with Rothmund-Thomson syndrome. 24 61
10606946 1999
49
Aplastic anemia in a patient with Rothmund-Thomson syndrome. 61 24
10524463 1999
50
Rothmund-Thomson syndrome with herpes encephalitis. 24 61
10417436 1999

Variations for Rothmund-Thomson Syndrome, Type 2

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

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RECQL4 NM_004260.3(RECQL4):c.1650_1656del (p.Ala551fs)deletion Pathogenic 6062 rs786200887 8:145739874-145739880 8:144514490-144514496
2 RECQL4 NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter)SNV Pathogenic 6063 rs137853229 8:145738796-145738796 8:144513412-144513412
3 RECQL4 NM_004260.3(RECQL4):c.2492_2493del (p.His831fs)deletion Pathogenic 6064 rs752729755 8:145738492-145738493 8:144513109-144513110
4 RECQL4 NM_004260.3(RECQL4):c.2059-1G>TSNV Pathogenic 6065 rs386833849 8:145739097-145739097 8:144513713-144513713
5 RECQL4 NM_004260.3(RECQL4):c.1573del (p.Cys525fs)deletion Pathogenic 6066 rs386833845 8:145740367-145740367 8:144514983-144514983
6 RECQL4 NM_004260.3(RECQL4):c.1391-1G>ASNV Pathogenic 6067 rs117642173 8:145740627-145740627 8:144515243-144515243
7 RECQL4 NM_004260.3(RECQL4):c.2059-1G>CSNV Pathogenic 6069 rs386833849 8:145739097-145739097 8:144513713-144513713
8 RECQL4 NM_004260.3(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro)deletion Pathogenic 6076 rs786200890 8:145739446-145739451 8:144514062-144514067
9 RECQL4 NM_004260.3(RECQL4):c.219_220AG[1] (p.Glu74fs)short repeat Pathogenic 459388 rs773325186 8:145742566-145742567 8:144517182-144517183
10 RECQL4 NM_004260.3(RECQL4):c.1149G>A (p.Trp383Ter)SNV Pathogenic 561097 rs1564804479 8:145741257-145741257 8:144515873-144515873
11 ANAPC1 NM_022662.4(ANAPC1):c.1778dup (p.Asn593fs)duplication Pathogenic 692105 2:112605314-112605315 2:111847737-111847738
12 ANAPC1 NM_022662.4(ANAPC1):c.4373+1G>ASNV Pathogenic 692106 2:112552394-112552394 2:111794817-111794817
13 ANAPC1 NM_022662.4(ANAPC1):c.2705-198C>TSNV Pathogenic/Likely pathogenic 692104 2:112582942-112582942 2:111825365-111825365
14 RECQL4 NM_004260.3(RECQL4):c.1704+1G>ASNV Pathogenic/Likely pathogenic 6077 rs760363252 8:145739825-145739825 8:144514441-144514441
15 RECQL4 NM_004260.3(RECQL4):c.1390+1G>TSNV Likely pathogenic 225453 rs1085307090 8:145740709-145740709 8:144515325-144515325
16 RECQL4 NM_004260.3(RECQL4):c.1089C>Gundetermined variant Likely pathogenic 666982
17 RECQL4 NM_004260.3(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs)insertion Likely pathogenic 559921 rs1554896308 8:145737393-145737394 8:144512010-144512011
18 RECQL4 NM_004260.3(RECQL4):c.2336_2357del (p.Asp779fs)deletion Likely pathogenic 559922 rs1554898257 8:145738707-145738728 8:144513324-144513345
19 RECQL4 NM_004260.3(RECQL4):c.2967G>A (p.Met989Ile)SNV Uncertain significance 239751 rs200018416 8:145737863-145737863 8:144512480-144512480
20 RECQL4 NM_004260.3(RECQL4):c.1219G>A (p.Glu407Lys)SNV Uncertain significance 239694 rs117670586 8:145741187-145741187 8:144515803-144515803
21 RECQL4 NM_004260.3(RECQL4):c.1159G>A (p.Gly387Arg)SNV Uncertain significance 239693 rs202043854 8:145741247-145741247 8:144515863-144515863
22 RECQL4 NM_004260.3(RECQL4):c.385C>T (p.Pro129Ser)SNV Uncertain significance 239773 rs201542692 8:145742118-145742118 8:144516734-144516734
23 RECQL4 NM_004260.3(RECQL4):c.1570C>T (p.Pro524Ser)SNV Uncertain significance 288908 rs374965803 8:145740370-145740370 8:144514986-144514986
24 RECQL4 NM_004260.3(RECQL4):c.3317G>A (p.Arg1106His)SNV Uncertain significance 407023 rs34236392 8:145737370-145737370 8:144511987-144511987
25 RECQL4 NM_004260.3(RECQL4):c.3055+5G>ASNV Uncertain significance 406976 rs377031190 8:145737770-145737770 8:144512387-144512387
26 RECQL4 NM_004260.3(RECQL4):c.1886G>A (p.Arg629Gln)SNV Uncertain significance 407042 rs761794554 8:145739484-145739484 8:144514100-144514100
27 RECQL4 NM_004260.3(RECQL4):c.1460G>A (p.Arg487His)SNV Uncertain significance 407015 rs775200679 8:145740557-145740557 8:144515173-144515173
28 RECQL4 NM_004260.3(RECQL4):c.1064G>A (p.Arg355Gln)SNV Uncertain significance 407037 rs374743591 8:145741439-145741439 8:144516055-144516055
29 RECQL4 NM_004260.3(RECQL4):c.3532G>A (p.Gly1178Arg)SNV Uncertain significance 406901 rs776146178 8:145736909-145736909 8:144511526-144511526
30 RECQL4 NM_004260.3(RECQL4):c.2983T>A (p.Ser995Thr)SNV Uncertain significance 406971 rs373202723 8:145737847-145737847 8:144512464-144512464
31 RECQL4 NM_004260.3(RECQL4):c.2252G>A (p.Arg751Gln)SNV Uncertain significance 407010 rs559066300 8:145738813-145738813 8:144513429-144513429
32 RECQL4 NM_004260.3(RECQL4):c.1900G>A (p.Val634Met)SNV Uncertain significance 406918 rs747895651 8:145739470-145739470 8:144514086-144514086
33 RECQL4 NM_004260.3(RECQL4):c.1472G>A (p.Arg491Gln)SNV Uncertain significance 406983 rs777256889 8:145740545-145740545 8:144515161-144515161
34 RECQL4 NM_004260.3(RECQL4):c.2761G>A (p.Glu921Lys)SNV Uncertain significance 406917 rs371890521 8:145738149-145738149 8:144512766-144512766
35 RECQL4 NM_004260.3(RECQL4):c.2344G>A (p.Asp782Asn)SNV Uncertain significance 406939 rs758319706 8:145738720-145738720 8:144513337-144513337
36 RECQL4 NM_004260.3(RECQL4):c.539G>A (p.Ser180Asn)SNV Uncertain significance 406996 rs1060501378 8:145741964-145741964 8:144516580-144516580
37 RECQL4 NM_004260.3(RECQL4):c.20T>G (p.Val7Gly)SNV Uncertain significance 406965 rs781721739 8:145743149-145743149 8:144517765-144517765
38 RECQL4 NM_004260.3(RECQL4):c.1892G>A (p.Arg631His)SNV Uncertain significance 459352 rs771179943 8:145739478-145739478 8:144514094-144514094
39 RECQL4 NM_004260.3(RECQL4):c.2543G>A (p.Arg848His)SNV Uncertain significance 459412 rs368989729 8:145738442-145738442 8:144513059-144513059
40 RECQL4 NM_004260.3(RECQL4):c.1939C>G (p.Arg647Gly)SNV Uncertain significance 459358 rs775127620 8:145739431-145739431 8:144514047-144514047
41 RECQL4 NM_004260.3(RECQL4):c.1853G>A (p.Arg618Gln)SNV Uncertain significance 459346 rs776616498 8:145739598-145739598 8:144514214-144514214
42 RECQL4 NM_004260.3(RECQL4):c.1345A>C (p.Thr449Pro)SNV Uncertain significance 459315 rs535692036 8:145740755-145740755 8:144515371-144515371
43 RECQL4 NM_004260.3(RECQL4):c.1868G>A (p.Arg623His)SNV Uncertain significance 135133 rs201734382 8:145739583-145739583 8:144514199-144514199
44 RECQL4 NM_004260.3(RECQL4):c.3172C>G (p.Arg1058Gly)SNV Uncertain significance 135144 rs375297971 8:145737591-145737591 8:144512208-144512208
45 RECQL4 NM_004260.3(RECQL4):c.1151G>A (p.Arg384Gln)SNV Uncertain significance 135170 rs376045624 8:145741255-145741255 8:144515871-144515871
46 RECQL4 NM_004260.3(RECQL4):c.1649C>T (p.Ala550Val)SNV Uncertain significance 212027 rs764297840 8:145739881-145739881 8:144514497-144514497
47 RECQL4 NM_004260.3(RECQL4):c.3496G>A (p.Gly1166Ser)SNV Uncertain significance 570383 8:145737070-145737070 8:144511687-144511687
48 RECQL4 NM_004260.3(RECQL4):c.2687T>C (p.Val896Ala)SNV Uncertain significance 576148 8:145738298-145738298 8:144512915-144512915
49 RECQL4 NM_004260.3(RECQL4):c.3428T>C (p.Ile1143Thr)SNV Uncertain significance 583315 8:145737138-145737138 8:144511755-144511755
50 RECQL4 NM_004260.3(RECQL4):c.3358G>A (p.Glu1120Lys)SNV Uncertain significance 573280 8:145737329-145737329 8:144511946-144511946

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 WRN TOP3A RMI2 RMI1 RAD51 FEN1
2
Show member pathways
12.96 WRN TOP3A RMI2 RMI1 RAD52 RAD51
3
Show member pathways
12.73 WRN TOP3A RMI2 RMI1 DNA2 BLM
4
Show member pathways
12.44 WRN TOP3A RMI2 RMI1 DNA2 BLM
5 12.23 WRN RECQL5 RECQL4 RECQL RAD51 FEN1
6
Show member pathways
11.85 WRN TOP3A RMI2 RMI1 RAD52 RAD51
7 11.73 TOP3A RMI2 RMI1 RAD51 BLM
8
Show member pathways
11.55 RAD51 HELLS BLM
9
Show member pathways
11.4 WRN TOP3A RMI2 RMI1 RAD52 RAD51
10 10.86 WRN FEN1

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 10.06 WRN USB1 TOP3A SRSF1 RMI2 RMI1
2 nuclear chromosome, telomeric region GO:0000784 9.58 RAD51 FEN1 DNA2
3 PML body GO:0016605 9.54 TOP3A RAD51 BLM
4 chromosome GO:0005694 9.5 WRN TOP3A RECQL5 RECQL4 RECQL RAD51
5 nucleoplasm GO:0005654 9.5 WRN USB1 TOP3A SRSF1 RMI2 RMI1
6 chromosome, telomeric region GO:0000781 9.43 WRN RECQL4 BLM
7 lateral element GO:0000800 9.32 RAD51 BLM

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.03 WRN RECQL5 RAD52 RAD51 FEN1 ERCC6
2 DNA recombination GO:0006310 9.91 WRN RECQL5 RECQL4 RECQL RAD52 RAD51
3 DNA replication GO:0006260 9.91 WRN TOP3A RMI2 RMI1 RECQL5 RECQL4
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.88 WRN USB1 FEN1 DNA2
5 regulation of signal transduction by p53 class mediator GO:1901796 9.88 WRN TOP3A RMI2 RMI1 DNA2 BLM
6 DNA duplex unwinding GO:0032508 9.87 WRN RECQL5 RECQL4 RECQL ERCC6 DNA2
7 telomere maintenance GO:0000723 9.83 WRN RECQL4 DNA2 BLM
8 double-strand break repair GO:0006302 9.8 WRN RAD52 FEN1
9 base-excision repair GO:0006284 9.78 WRN FEN1 ERCC6 DNA2
10 DNA metabolic process GO:0006259 9.75 WRN RECQL5 RAD51
11 replication fork processing GO:0031297 9.74 WRN RAD51 BLM
12 response to X-ray GO:0010165 9.73 RAD51 ERCC6 BLM
13 t-circle formation GO:0090656 9.72 WRN DNA2 BLM
14 telomeric D-loop disassembly GO:0061820 9.71 WRN RECQL4 BLM
15 DNA repair GO:0006281 9.7 WRN RMI2 RECQL5 RECQL4 RECQL RAD52
16 DNA strand renaturation GO:0000733 9.69 RECQL4 RECQL BLM
17 G-quadruplex DNA unwinding GO:0044806 9.67 WRN DNA2 BLM
18 telomere maintenance via semi-conservative replication GO:0032201 9.65 FEN1 DNA2
19 negative regulation of double-strand break repair via homologous recombination GO:2000042 9.64 RMI2 RECQL5
20 DNA double-strand break processing GO:0000729 9.64 DNA2 BLM
21 cellular metabolic process GO:0044237 9.63 WRN BLM
22 cellular response to hydroxyurea GO:0072711 9.63 RAD51 BLM
23 cellular response to camptothecin GO:0072757 9.63 RECQL5 RAD51 BLM
24 DNA unwinding involved in DNA replication GO:0006268 9.63 WRN RECQL5 RECQL4 RECQL RAD51 BLM
25 chromosome separation GO:0051304 9.62 TOP3A RECQL5
26 mitotic recombination GO:0006312 9.61 RAD52 RAD51
27 replication-born double-strand break repair via sister chromatid exchange GO:1990414 9.61 RECQL5 RAD51
28 DNA replication, removal of RNA primer GO:0043137 9.6 FEN1 DNA2
29 DNA recombinase assembly GO:0000730 9.59 RAD52 RAD51
30 double-strand break repair via homologous recombination GO:0000724 9.28 WRN RMI1 RECQL5 RECQL4 RECQL RAD52

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.21 WRN TOP3A RMI2 RECQL RAD52 RAD51
2 ATP binding GO:0005524 10.11 WRN RECQL5 RECQL4 RECQL RAD51 HELLS
3 hydrolase activity GO:0016787 10.1 WRN USB1 RECQL5 RECQL4 RECQL HELLS
4 nucleic acid binding GO:0003676 10.08 WRN SRSF1 RECQL5 RECQL4 RECQL BLM
5 nucleotide binding GO:0000166 9.97 RMI1 RAD51 ERCC6 DNA2 BLM
6 catalytic activity GO:0003824 9.92 WRN FEN1 DNA2 BLM
7 nuclease activity GO:0004518 9.83 WRN USB1 FEN1 DNA2
8 single-stranded DNA binding GO:0003697 9.8 TOP3A RAD52 RAD51 BLM
9 helicase activity GO:0004386 9.76 WRN RECQL5 RECQL4 RECQL HELLS ERCC6
10 DNA-dependent ATPase activity GO:0008094 9.73 RAD51 ERCC6 BLM
11 four-way junction DNA binding GO:0000400 9.61 WRN BLM
12 single-stranded DNA-dependent ATP-dependent DNA helicase activity GO:0017116 9.61 RAD51 DNA2
13 3'-5' DNA helicase activity GO:0043138 9.61 WRN RECQL4 BLM
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 9.57 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 bubble DNA binding GO:0000405 9.54 WRN RECQL4 BLM
20 annealing helicase activity GO:0036310 9.5 RECQL4 RECQL BLM
21 DNA helicase activity GO:0003678 9.5 WRN RECQL5 RECQL4 RECQL ERCC6 DNA2
22 forked DNA-dependent helicase activity GO:0061749 9.48 WRN BLM
23 telomeric D-loop binding GO:0061821 9.43 WRN RECQL4 BLM
24 four-way junction helicase activity GO:0009378 9.02 WRN RECQL5 RECQL4 RECQL BLM

Sources for Rothmund-Thomson Syndrome, Type 2

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
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