MCID: RTH001
MIFTS: 56

Rothmund-Thomson Syndrome

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

Aliases & Classifications for Rothmund-Thomson Syndrome

MalaCards integrated aliases for Rothmund-Thomson Syndrome:

Name: Rothmund-Thomson Syndrome 57 12 24 53 25 75 37 29 13 55 6 44 15 73
Rts 57 12 53 25 75
Poikiloderma Atrophicans and Cataract 57 53 25
Poikiloderma Congenitale 53 25
Congenital Poikiloderma 12 25
Poikiloderma Congenitale of Rothmund-Thomson 25
Poikiloderma of Rothmund-Thomson 53
Erythrokeratodermia Variabilis 73
Syndrome, Rothmund-Thomson 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



Summaries for Rothmund-Thomson Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Rothmund-Thomson Syndrome, also known as rts, is related to poikiloderma with neutropenia and baller-gerold syndrome, and has symptoms including exanthema An important gene associated with Rothmund-Thomson Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are DNA Damage and Apoptosis-related network due to altered Notch3 in ovarian cancer. The drugs Bone Density Conservation Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and frontal bossing

OMIM : 57 Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease (Simon et al., 2010). (268400)

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma... more...

GeneReviews: NBK1237

Related Diseases for Rothmund-Thomson Syndrome

Diseases in the Rothmund-Thomson Syndrome family:

Rothmund-Thomson Syndrome Type 1 Rothmund-Thomson Syndrome Type 2

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 poikiloderma with neutropenia 32.2 RECQL4 USB1
2 baller-gerold syndrome 30.9 RECQL RECQL4 RECQL5 WRN
3 rapadilino syndrome 30.1 HELLS RECQL RECQL4 RECQL5 WRN
4 werner syndrome 27.7 BLM HELLS RECQL RECQL4 RECQL5 WRN
5 bloom syndrome 27.5 BLM HELLS RECQL RECQL4 RECQL5 WRN
6 rothmund-thomson syndrome type 1 12.3
7 rothmund-thomson syndrome type 2 12.3
8 atypical teratoid rhabdoid tumor 11.8
9 chromosome 16p13.3 deletion syndrome, proximal 11.7
10 rhabdoid cancer 11.5
11 hereditary acrokeratotic poikiloderma, weary type 10.9
12 osteogenic sarcoma 10.3
13 sarcoma 10.3
14 aging 10.3
15 glomerulonephritis 10.2
16 neutropenia 10.2
17 esophagitis 10.2
18 squamous cell carcinoma 10.2
19 calcinosis 10.2
20 bronchiectasis 10.2
21 dwarfism 10.2
22 mosaic trisomy 8 10.2
23 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
24 pancreas, annular 10.0
25 ringed hair 10.0
26 enterocolitis 10.0
27 hypoadrenocorticism, familial 10.0
28 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
29 combined immunodeficiency, x-linked 10.0
30 aplastic anemia 10.0
31 c1q deficiency 10.0
32 myelodysplastic syndrome 10.0
33 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
34 alopecia 10.0
35 bone fracture 10.0
36 cataract 10.0
37 hydrocephalus 10.0
38 lymphoma 10.0
39 bone disease 10.0
40 klippel-feil syndrome 10.0
41 nasopharyngitis 10.0
42 hypohidrosis 10.0
43 anhidrosis 10.0
44 anodontia 10.0
45 malignant fibroxanthoma 10.0
46 melanoma 10.0
47 hypogonadism 10.0
48 dyskeratosis congenita 10.0
49 porokeratosis 10.0
50 histiocytoma 10.0

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



Diseases related to Rothmund-Thomson Syndrome

Symptoms & Phenotypes for Rothmund-Thomson Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
prognathism

Skeletal:
osteoporosis

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

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

Abdomen Gastrointestinal:
anteriorly placed anus

Abdomen Pancreas:
annular pancreas

Skeletal Hands:
hypoplastic thumbs
small hands

Skeletal Spine:
kyphoscoliosis (in some patients)

Skeletal Pelvis:
congenital hip dislocation (rare)

Skin Nails Hair Nails:
atrophic nails

Growth Height:
short stature

Head And Neck Eyes:
strabismus
microphthalmia
glaucoma
microcornea
juvenile zonular cataracts
more
GenitourinaryInternal GenitaliaMale:
cryptorchidism

Endocrine Features:
hypogonadism

Neoplasia:
squamous cell carcinoma
basal 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 Feet:
club feet
small feet

Head And Neck Nose:
small, saddle nose

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

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


Clinical features from OMIM:

268400

Human phenotypes related to Rothmund-Thomson Syndrome:

32 (show top 50) (show all 67)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 frequent (33%) HP:0000316
2 frontal bossing 32 frequent (33%) HP:0002007
3 ptosis 32 occasional (7.5%) HP:0000508
4 hypertension 32 occasional (7.5%) HP:0000822
5 osteopenia 32 occasional (7.5%) HP:0000938
6 intellectual disability 32 occasional (7.5%) HP:0001249
7 nausea and vomiting 32 occasional (7.5%) HP:0002017
8 scoliosis 32 frequent (33%) HP:0002650
9 global developmental delay 32 occasional (7.5%) HP:0001263
10 carious teeth 32 frequent (33%) HP:0000670
11 malabsorption 32 occasional (7.5%) HP:0002024
12 abnormality of the ulna 32 occasional (7.5%) HP:0002997
13 microcephaly 32 frequent (33%) HP:0000252
14 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
15 short stature 32 hallmark (90%) HP:0004322
16 nephropathy 32 occasional (7.5%) HP:0000112
17 anemia 32 occasional (7.5%) HP:0001903
18 micrognathia 32 frequent (33%) HP:0000347
19 myelodysplasia 32 occasional (7.5%) HP:0002863
20 abnormal blistering of the skin 32 hallmark (90%) HP:0008066
21 opacification of the corneal stroma 32 frequent (33%) HP:0007759
22 joint hyperflexibility 32 frequent (33%) HP:0005692
23 epicanthus 32 frequent (33%) HP:0000286
24 limitation of joint mobility 32 frequent (33%) HP:0001376
25 dry skin 32 frequent (33%) HP:0000958
26 abnormality of the fingernails 32 frequent (33%) HP:0001231
27 external ear malformation 32 frequent (33%) HP:0008572
28 skin ulcer 32 occasional (7.5%) HP:0200042
29 hypopigmented skin patches 32 hallmark (90%) HP:0001053
30 arthrogryposis multiplex congenita 32 occasional (7.5%) HP:0002804
31 hypogonadism 32 frequent (33%) HP:0000135
32 premature graying of hair 32 occasional (7.5%) HP:0002216
33 short philtrum 32 frequent (33%) HP:0000322
34 deeply set eye 32 frequent (33%) HP:0000490
35 abnormality of the metacarpal bones 32 occasional (7.5%) HP:0001163
36 glaucoma 32 occasional (7.5%) HP:0000501
37 irregular hyperpigmentation 32 hallmark (90%) HP:0007400
38 reduced number of teeth 32 occasional (7.5%) HP:0009804
39 erythema 32 hallmark (90%) HP:0010783
40 neutropenia 32 occasional (7.5%) HP:0001875
41 lymphoma 32 occasional (7.5%) HP:0002665
42 pyloric stenosis 32 occasional (7.5%) HP:0002021
43 craniosynostosis 32 occasional (7.5%) HP:0001363
44 cutaneous photosensitivity 32 hallmark (90%) HP:0000992
45 osteosarcoma 32 frequent (33%) HP:0002669
46 keratoconus 32 occasional (7.5%) HP:0000563
47 abnormality of the sacrum 32 occasional (7.5%) HP:0005107
48 oral cleft 32 occasional (7.5%) HP:0000202
49 aplasia/hypoplasia of the thumb 32 occasional (7.5%) HP:0009601
50 abnormality of the adrenal glands 32 occasional (7.5%) HP:0000834

UMLS symptoms related to Rothmund-Thomson Syndrome:


exanthema

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 BLM RECQL RECQL4 RECQL5 WRN

MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.23 BLM CDC45 HELLS MAPK1 RECQL RECQL4

Drugs & Therapeutics for Rothmund-Thomson Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bone Density Conservation Agents
2 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Calcium Absorption in Patients With Rothmund-Thomson Syndrome Unknown status NCT01304407
2 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Rothmund-Thomson Syndrome

Cochrane evidence based reviews: rothmund-thomson syndrome

Genetic Tests for Rothmund-Thomson Syndrome

Genetic tests related to Rothmund-Thomson Syndrome:

# Genetic test Affiliating Genes
1 Rothmund-Thomson Syndrome 29 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

41
Skin, Bone, Eye, Pancreas, Adrenal Gland, Tongue

Publications for Rothmund-Thomson Syndrome

Articles related to Rothmund-Thomson Syndrome:

(show top 50) (show all 170)
# Title Authors Year
1
Rothmund-Thomson syndrome (RTS) with osteosarcoma due to<i>RECQL4</i>mutation. ( 29367366 )
2018
2
Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome. ( 29462647 )
2018
3
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome. ( 29642415 )
2018
4
Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings. ( 28443301 )
2017
5
Generalized Metabolic Bone Disease and Fracture Risk in Rothmund-Thomson Syndrome. ( 28486640 )
2017
6
Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4. ( 29224249 )
2017
7
Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature. ( 29044077 )
2017
8
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome. ( 28039508 )
2017
9
Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature. ( 27463631 )
2016
10
Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. ( 27287744 )
2016
11
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. ( 27247962 )
2016
12
Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome. ( 27307676 )
2016
13
Dental management of Rothmund-Thomson syndrome with partial anodontia. ( 26032705 )
2015
14
Leg ulcer in a patient with Rothmund-Thomson syndrome. ( 26543707 )
2015
15
Osteosarcoma in patients with Rothmund-Thomson syndrome. ( 25551679 )
2015
16
Rothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype? ( 25751344 )
2015
17
A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome. ( 26515231 )
2015
18
Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome. ( 26617641 )
2015
19
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. ( 24518840 )
2014
20
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. ( 24960165 )
2014
21
Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome. ( 25266359 )
2014
22
Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature. ( 25441286 )
2014
23
Rare skeletal abnormalities in Rothmund-Thomson syndrome: a case report. ( 25311928 )
2014
24
Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice. ( 24832598 )
2014
25
Rothmund-Thomson syndrome. ( 25396146 )
2014
26
Rothmund-thomson syndrome: a 13-year follow-up. ( 25120469 )
2014
27
Activation of p38 MAP kinase and stress signalling in fibroblasts from the progeroid Rothmund-Thomson syndrome. ( 23001818 )
2013
28
The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. ( 23683351 )
2013
29
Oral findings of rothmund-thomson syndrome. ( 24363941 )
2013
30
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. ( 24157463 )
2013
31
Clinical utility gene card for: Rothmund-Thomson syndrome. ( 23188052 )
2013
32
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. ( 22711845 )
2012
33
Chronic tibial nonunion in a Rothmund-Thomson syndrome patient. ( 22821900 )
2012
34
RECQL4, the protein mutated in Rothmund-Thomson syndrome, functions in telomere maintenance. ( 22039056 )
2012
35
Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome. ( 21418107 )
2011
36
Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis. ( 21951866 )
2011
37
Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report. ( 20194333 )
2010
38
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. ( 20503338 )
2010
39
Therapy-resistant leg ulcer in a patient with Rothmund-Thomson syndrome. ( 20860557 )
2010
40
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. ( 20817924 )
2010
41
Rothmund-Thomson syndrome. ( 20113479 )
2010
42
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report. ( 21143835 )
2010
43
Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair. ( 20096650 )
2010
44
Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. ( 19177149 )
2009
45
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. ( 19299466 )
2009
46
Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? ( 18952524 )
2008
47
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. ( 18504617 )
2008
48
Amelanotic melanoma in a patient with Rothmund-Thomson syndrome. ( 18347307 )
2008
49
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. ( 18755177 )
2008
50
Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. ( 18346259 )
2008

Variations for Rothmund-Thomson Syndrome

ClinVar genetic disease variations for Rothmund-Thomson Syndrome:

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 RECQL4 NM_004260.3(RECQL4): c.1650_1656delGGCCTGC (p.Ala551Tyrfs) deletion Pathogenic rs786200887 GRCh37 Chromosome 8, 145739874: 145739880
2 RECQL4 NM_004260.3(RECQL4): c.1650_1656delGGCCTGC (p.Ala551Tyrfs) deletion Pathogenic rs786200887 GRCh38 Chromosome 8, 144514490: 144514496
3 RECQL4 NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter) single nucleotide variant Pathogenic rs137853229 GRCh37 Chromosome 8, 145738796: 145738796
4 RECQL4 NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter) single nucleotide variant Pathogenic rs137853229 GRCh38 Chromosome 8, 144513412: 144513412
5 RECQL4 NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs) deletion Pathogenic rs752729755 GRCh37 Chromosome 8, 145738492: 145738493
6 RECQL4 NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs) deletion Pathogenic rs752729755 GRCh38 Chromosome 8, 144513109: 144513110
7 RECQL4 NM_004260.3(RECQL4): c.2059-1G> T single nucleotide variant Pathogenic rs386833849 GRCh37 Chromosome 8, 145739097: 145739097
8 RECQL4 NM_004260.3(RECQL4): c.2059-1G> T single nucleotide variant Pathogenic rs386833849 GRCh38 Chromosome 8, 144513713: 144513713
9 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic rs386833845 GRCh37 Chromosome 8, 145740367: 145740367
10 RECQL4 NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs) deletion Pathogenic rs386833845 GRCh38 Chromosome 8, 144514983: 144514983
11 RECQL4 NM_004260.3(RECQL4): c.1391-1G> A single nucleotide variant Pathogenic rs117642173 GRCh37 Chromosome 8, 145740627: 145740627
12 RECQL4 NM_004260.3(RECQL4): c.1391-1G> A single nucleotide variant Pathogenic rs117642173 GRCh38 Chromosome 8, 144515243: 144515243
13 RECQL4 NM_004260.3(RECQL4): c.2059-1G> C single nucleotide variant Pathogenic rs386833849 GRCh38 Chromosome 8, 144513713: 144513713
14 RECQL4 NM_004260.3(RECQL4): c.2059-1G> C single nucleotide variant Pathogenic rs386833849 GRCh37 Chromosome 8, 145739097: 145739097
15 RECQL4 NM_004260.3(RECQL4): c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro) deletion Pathogenic rs786200890 GRCh37 Chromosome 8, 145739446: 145739451
16 RECQL4 NM_004260.3(RECQL4): c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro) deletion Pathogenic rs786200890 GRCh38 Chromosome 8, 144514062: 144514067
17 RECQL4 NM_004260.3(RECQL4): c.1704+1G> A single nucleotide variant Pathogenic rs760363252 GRCh37 Chromosome 8, 145739825: 145739825
18 RECQL4 NM_004260.3(RECQL4): c.1704+1G> A single nucleotide variant Pathogenic rs760363252 GRCh38 Chromosome 8, 144514441: 144514441
19 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic rs386833851 GRCh37 Chromosome 8, 145738509: 145738509
20 RECQL4 NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic rs386833851 GRCh38 Chromosome 8, 144513126: 144513126
21 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh37 Chromosome 8, 145738522: 145738522
22 RECQL4 NM_004260.3(RECQL4): c.2464-1G> C single nucleotide variant Pathogenic rs398124117 GRCh38 Chromosome 8, 144513139: 144513139
23 RECQL4 NM_004260.3(RECQL4): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs794726912 GRCh37 Chromosome 8, 145743087: 145743087
24 RECQL4 NM_004260.3(RECQL4): c.82C> T (p.Gln28Ter) single nucleotide variant Pathogenic rs794726912 GRCh38 Chromosome 8, 144517703: 144517703
25 RECQL4 NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs) deletion Pathogenic rs746636748 GRCh37 Chromosome 8, 145741454: 145741455
26 RECQL4 NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs) deletion Pathogenic rs746636748 GRCh38 Chromosome 8, 144516070: 144516071
27 RECQL4 NM_004260.3(RECQL4): c.1390+1G> T single nucleotide variant Likely pathogenic rs1085307090 GRCh37 Chromosome 8, 145740709: 145740709
28 RECQL4 NM_004260.3(RECQL4): c.1390+1G> T single nucleotide variant Likely pathogenic rs1085307090 GRCh38 Chromosome 8, 144515325: 144515325
29 RECQL4 NM_004260.3(RECQL4): c.1259-1G> A single nucleotide variant Pathogenic rs372380880 GRCh37 Chromosome 8, 145740842: 145740842
30 RECQL4 NM_004260.3(RECQL4): c.1259-1G> A single nucleotide variant Pathogenic rs372380880 GRCh38 Chromosome 8, 144515458: 144515458
31 RECQL4 NM_004260.3(RECQL4): c.1568delG (p.Ser523Thrfs) deletion Pathogenic rs886043102 GRCh37 Chromosome 8, 145740372: 145740372
32 RECQL4 NM_004260.3(RECQL4): c.1568delG (p.Ser523Thrfs) deletion Pathogenic rs886043102 GRCh38 Chromosome 8, 144514988: 144514988

Expression for Rothmund-Thomson Syndrome

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

Pathways for Rothmund-Thomson Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.57 BLM CDC45 RECQL RECQL4 RECQL5 WRN
3 10.95 BLM MAPK1 WRN
4 10.7 C1QC MAPK1

GO Terms for Rothmund-Thomson Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 BLM CDC45 HELLS MAPK1 RECQL RECQL4
2 replication fork GO:0005657 9.16 BLM WRN
3 chromosome, telomeric region GO:0000781 9.13 BLM RECQL4 WRN
4 chromosome GO:0005694 9.02 BLM RECQL RECQL4 RECQL5 WRN

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.85 CDC45 HELLS MAPK1 RECQL5
2 cellular response to DNA damage stimulus GO:0006974 9.81 BLM MAPK1 RECQL5 WRN
3 DNA repair GO:0006281 9.8 BLM RECQL RECQL4 RECQL5 WRN
4 DNA replication GO:0006260 9.65 BLM CDC45 RECQL4 RECQL5 WRN
5 telomere maintenance GO:0000723 9.58 RECQL4 WRN
6 base-excision repair GO:0006284 9.58 RECQL4 WRN
7 DNA metabolic process GO:0006259 9.57 RECQL5 WRN
8 DNA synthesis involved in DNA repair GO:0000731 9.56 BLM WRN
9 DNA recombination GO:0006310 9.55 BLM RECQL RECQL4 RECQL5 WRN
10 replication fork processing GO:0031297 9.54 BLM WRN
11 telomeric D-loop disassembly GO:0061820 9.54 BLM RECQL4 WRN
12 strand displacement GO:0000732 9.52 BLM WRN
13 DNA strand renaturation GO:0000733 9.5 BLM RECQL RECQL4
14 cellular metabolic process GO:0044237 9.49 BLM WRN
15 t-circle formation GO:0090656 9.48 BLM WRN
16 G-quadruplex DNA unwinding GO:0044806 9.46 BLM WRN
17 cellular response to camptothecin GO:0072757 9.43 BLM RECQL5
18 double-strand break repair via homologous recombination GO:0000724 9.35 BLM RECQL RECQL4 RECQL5 WRN
19 DNA duplex unwinding GO:0032508 9.1 BLM CDC45 RECQL RECQL4 RECQL5 WRN

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 nucleic acid binding GO:0003676 9.89 BLM RECQL RECQL5 WRN
2 helicase activity GO:0004386 9.73 BLM HELLS RECQL RECQL4 RECQL5 WRN
3 ATP-dependent DNA helicase activity GO:0004003 9.63 BLM RECQL WRN
4 DNA helicase activity GO:0003678 9.62 BLM RECQL RECQL5 WRN
5 annealing helicase activity GO:0036310 9.61 BLM RECQL RECQL4
6 four-way junction DNA binding GO:0000400 9.58 BLM WRN
7 bubble DNA binding GO:0000405 9.58 BLM RECQL4 WRN
8 3-5 DNA helicase activity GO:0043138 9.56 CDC45 WRN
9 G-quadruplex DNA binding GO:0051880 9.55 BLM WRN
10 ATP-dependent helicase activity GO:0008026 9.55 BLM RECQL RECQL4 RECQL5 WRN
11 Y-form DNA binding GO:0000403 9.54 BLM WRN
12 telomeric D-loop binding GO:0061821 9.54 BLM RECQL4 WRN
13 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 9.52 BLM WRN
14 telomeric G-quadruplex DNA binding GO:0061849 9.51 BLM WRN
15 forked DNA-dependent helicase activity GO:0061749 9.48 BLM WRN
16 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.35 BLM RECQL RECQL4 RECQL5 WRN
17 four-way junction helicase activity GO:0009378 9.02 BLM RECQL RECQL4 RECQL5 WRN
18 DNA binding GO:0003677 10.06 BLM MAPK1 RECQL RECQL4 RECQL5 WRN
19 hydrolase activity GO:0016787 10.04 BLM HELLS RECQL RECQL5 USB1 WRN
20 ATP binding GO:0005524 10.04 BLM HELLS MAPK1 RECQL RECQL4 RECQL5

Sources for Rothmund-Thomson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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