RTS1
MCID: RTH007
MIFTS: 37

Rothmund-Thomson Syndrome, Type 1 (RTS1)

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

Aliases & Classifications for Rothmund-Thomson Syndrome, Type 1

MalaCards integrated aliases for Rothmund-Thomson Syndrome, Type 1:

Name: Rothmund-Thomson Syndrome, Type 1 56 73
Rts1 56 58 73
Poikiloderma Atrophicans and Cataract 56 73
Rothmund-Thomson Syndrome Type 1 58 6
Poikiloderma of Rothmund-Thomson Type 1 58
Rothmund-Thomson Syndrome 1 73
Rothmund-Thomson Syndrome 43

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
compound heterozygotes seem to have a more complex phenotype than homozygotes
based on report of 10 patients


Classifications:

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


Summaries for Rothmund-Thomson Syndrome, Type 1

OMIM : 56 Rothmund-Thomson syndrome type 1 (RTS1) is an autosomal recessive disorder characterized by poikiloderma, sparse hair, and bilateral juvenile cataracts. Patients may also have growth retardation and genital, skeletal, and dental abnormalities. The disorder is not associated with an increased risk of cancer (summary by Ajeawung et al., 2019). For a discussion of genetic heterogeneity of Rothmund-Thomson syndrome, see RTS2 (268400). (618625)

MalaCards based summary : Rothmund-Thomson Syndrome, Type 1, also known as rts1, is related to baller-gerold syndrome and rapadilino syndrome. An important gene associated with Rothmund-Thomson Syndrome, Type 1 is ANAPC1 (Anaphase Promoting Complex Subunit 1). The drugs Calcium, Dietary and Calcium have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are cataract and skeletal dysplasia

UniProtKB/Swiss-Prot : 73 Rothmund-Thomson syndrome 1: An autosomal recessive disorder characterized by sparse hair, bilateral juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dystrophic and thin nails, and genital, skeletal and dental abnormalities. RTS1 is not associated with an increased risk of cancer.

Related Diseases for Rothmund-Thomson Syndrome, Type 1

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

Rothmund-Thomson Syndrome, Type 1

Diseases related to Rothmund-Thomson Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 baller-gerold syndrome 12.2
2 rapadilino syndrome 12.2
3 bloom syndrome 11.9
4 poikiloderma with neutropenia 11.9
5 erythrokeratoderma 11.6
6 osteogenic sarcoma 11.0
7 erythrokeratoderma ''en cocardes'' 10.9
8 hypogonadism 10.8
9 exanthem 10.8
10 premature aging 10.7
11 werner syndrome 10.7
12 alopecia 10.7
13 chromosomal triplication 10.7
14 dowling-degos disease 1 10.6
15 keratosis 10.6
16 rare genetic skin disease 10.6
17 mosaic trisomy 8 10.6
18 myelodysplastic syndrome 10.5
19 sarcoma 10.5
20 telangiectasis 10.5
21 skin carcinoma 10.5
22 spindle cell sarcoma 10.5
23 neutropenia 10.5
24 calcinosis 10.5
25 dyskeratosis congenita 10.5
26 growth hormone deficiency 10.5
27 hair whorl 10.4
28 pancreas, annular 10.4
29 intraocular pressure quantitative trait locus 10.4
30 c1q deficiency 10.4
31 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 10.4
32 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.4
33 deficiency anemia 10.4
34 mucositis 10.4
35 anhidrosis 10.4
36 pyloric stenosis 10.4
37 diarrhea 10.4
38 squamous cell carcinoma 10.4
39 malignant fibrous histiocytoma 10.4
40 ectodermal dysplasia 10.4
41 glomerulonephritis 10.4
42 mesenchymal cell neoplasm 10.4
43 fibrous histiocytoma 10.4
44 bronchiectasis 10.4
45 dwarfism 10.4
46 rothmund-thomson syndrome, type 2 10.3
47 autosomal recessive disease 10.3
48 cataract 10.3
49 overgrowth syndrome 10.3
50 cleft palate, isolated 10.2

Graphical network of the top 20 diseases related to Rothmund-Thomson Syndrome, Type 1:



Diseases related to Rothmund-Thomson Syndrome, Type 1

Symptoms & Phenotypes for Rothmund-Thomson Syndrome, Type 1

Human phenotypes related to Rothmund-Thomson Syndrome, Type 1:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
6 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
7 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
8 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
9 prematurely aged appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0007495
10 absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000561
11 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
12 absent eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002223
13 poikiloderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001029
14 brittle hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002299
15 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
16 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
17 sparse hair 31 hallmark (90%) HP:0008070
18 growth delay 58 Very frequent (99-80%)
19 hypotrichosis 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism
hypogonadism (in 1 patient)

Skin Nails Hair Skin:
poikiloderma
hyperkeratosis (in some patients)
blistering skin (in some patients)
cafe-au-lait spots (in some patients)

Growth Height:
short stature (in some patients)

Skin Nails Hair Nails:
dystrophic nails (in some patients)
thin nails (in some patients)

Skeletal:
delayed bone age (in some patients)
fractures (in some patients)
osteoporosis (in 1 patient)

Neurologic Central Nervous System:
developmental delay (in 1 patient)
intellectual disability (in 1 patient)

Genitourinary Internal Genitalia Female:
premature ovarian failure (in some patients)

Skeletal Hands:
short metacarpals (in some patients)
short phalanges (in some patients)
dysplastic phalanges (in 1 patient)

Skin Nails Hair Hair:
sparse or absent eyelashes
sparse or absent scalp hair sparse or absent eyebrows

Head And Neck Teeth:
misshapen teeth (in some patients)
abnormal teeth
small teeth (in some patients)
cone-shaped teeth (in some patients)
pointy teeth (in 1 patient)

Head And Neck Eyes:
sparse or absent eyebrows
bilateral juvenile cataracts
sparse or absent eyelashes (in some patients)

Endocrine Features:
hypothyroidism (in some patients)
hypogonadism (in 1 patient)

Head And Neck Head:
sparse or absent scalp hair

Genitourinary External Genitalia Male:
micropenis (in 1 patient)

Skeletal Limbs:
genu varum (in 1 patient)
large metaphyses of long bones (in 1 patient)
punctate sclerotic foci at multiple metaphyses (in 1 patient)

Neurologic Behavioral Psychiatric Manifestations:
attention deficit/hyperactivity disorder (in 1 patient)

Clinical features from OMIM:

618625

Drugs & Therapeutics for Rothmund-Thomson Syndrome, Type 1

Drugs for Rothmund-Thomson Syndrome, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


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

Search NIH Clinical Center for Rothmund-Thomson Syndrome, Type 1

Cochrane evidence based reviews: rothmund-thomson syndrome

Genetic Tests for Rothmund-Thomson Syndrome, Type 1

Anatomical Context for Rothmund-Thomson Syndrome, Type 1

MalaCards organs/tissues related to Rothmund-Thomson Syndrome, Type 1:

40
Skin, Bone, Eye

Publications for Rothmund-Thomson Syndrome, Type 1

Articles related to Rothmund-Thomson Syndrome, Type 1:

(show top 50) (show all 136)
# Title Authors PMID Year
1
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. 6 56 61
31303264 2019
2
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 56
12734318 2003
3
Rothmund-Thomson Syndrome 6
20301415 1999
4
Genes and lipids that impact uptake and assimilation of exogenous coenzyme Q in Saccharomyces cerevisiae. 61
32387128 2020
5
Screening a genomic library for genes involved in propionate tolerance in Yarrowia lipolytica. 61
31293017 2020
6
Cdc14 and PP2A Phosphatases Cooperate to Shape Phosphoproteome Dynamics during Mitotic Exit. 61
31722221 2019
7
A Conserved PP2A Regulatory Subunit Enforces Proportional Relationships Between Cell Size and Growth Rate. 61
31488515 2019
8
The PP2A regulatory subunits, Cdc55 and Rts1, play distinct roles in Candida albicans' growth, morphogenesis, and virulence. 61
31185286 2019
9
Sit4 and PP2A Dephosphorylate Nitrogen Catabolite Repression-Sensitive Gln3 When TorC1 Is Up- as Well as Downregulated. 61
31213504 2019
10
Structural basis of transcriptional regulation by the HigA antitoxin. 61
30793388 2019
11
The PCNA unloader Elg1 promotes recombination at collapsed replication forks in fission yeast. 61
31149897 2019
12
Spo13 prevents premature cohesin cleavage during meiosis. 61
30906881 2019
13
Yeast Lacking the PP2A Phosphatase Regulatory Subunit Rts1 Sensitizes rad51 Mutants to Specific DNA Damaging Agents. 61
31781172 2019
14
An interplay between Shugoshin and Spo13 for centromeric cohesin protection and sister kinetochore mono-orientation during meiosis I in Saccharomyces cerevisiae. 61
29644457 2018
15
Connecting GCN5's centromeric SAGA to the mitotic tension-sensing checkpoint. 61
29995571 2018
16
Investigating the role of Rts1 in DNA replication initiation. 61
29721551 2018
17
Cell Size and Growth Rate Are Modulated by TORC2-Dependent Signals. 61
29290562 2018
18
Ribosome-dependent Vibrio cholerae mRNAse HigB2 is regulated by a β-strand sliding mechanism. 61
28334932 2017
19
Premature Silencing of the Spindle Assembly Checkpoint Is Prevented by the Bub1-H2A-Sgo1-PP2A Axis in Saccharomyces cerevisiae. 61
28040741 2017
20
Promotion of Cell Viability and Histone Gene Expression by the Acetyltransferase Gcn5 and the Protein Phosphatase PP2A in Saccharomyces cerevisiae. 61
27317677 2016
21
Redundant Regulation of Cdk1 Tyrosine Dephosphorylation in Saccharomyces cerevisiae. 61
26715668 2016
22
Orchestrated Action of PP2A Antagonizes Atg13 Phosphorylation and Promotes Autophagy after the Inactivation of TORC1. 61
27973551 2016
23
Recombination occurs within minutes of replication blockage by RTS1 producing restarted forks that are prone to collapse. 61
25806683 2015
24
Analyzing the Response to Dysfunction Replication Forks Using the RTS1 Barrier System in Fission Yeast. 61
25916716 2015
25
The Rts1 regulatory subunit of PP2A phosphatase controls expression of the HO endonuclease via localization of the Ace2 transcription factor. 61
25352596 2014
26
Sgo1 recruits PP2A to chromosomes to ensure sister chromatid bi-orientation during mitosis. 61
25236599 2014
27
Tension-dependent removal of pericentromeric shugoshin is an indicator of sister chromosome biorientation. 61
24939933 2014
28
Sgo1 regulates both condensin and Ipl1/Aurora B to promote chromosome biorientation. 61
24945276 2014
29
PP2ARts1 is a master regulator of pathways that control cell size. 61
24493588 2014
30
Protein phosphatase 2A regulatory subunits perform distinct functional roles in the maize pathogen Fusarium verticillioides. 61
23452277 2013
31
Rts1-protein phosphatase 2A antagonizes Ptr3-mediated activation of the signaling protease Ssy5 by casein kinase I. 61
23447701 2013
32
Slx8 removes Pli1-dependent protein-SUMO conjugates including SUMOylated topoisomerase I to promote genome stability. 61
23936535 2013
33
Centromere binding and a conserved role in chromosome stability for SUMO-dependent ubiquitin ligases. 61
23785440 2013
34
Glucose-induced posttranslational activation of protein phosphatases PP2A and PP1 in yeast. 61
22290422 2012
35
Chemical genetic profiling of the microtubule-targeting agent peloruside A in budding yeast Saccharomyces cerevisiae. 61
22326528 2012
36
TORC2 signaling is antagonized by protein phosphatase 2A and the Far complex in Saccharomyces cerevisiae. 61
22298706 2012
37
Identification and characterization of genes involved in glutathione production in yeast. 61
21601516 2011
38
Cdc55 coordinates spindle assembly and chromosome disjunction during meiosis. 61
21690308 2011
39
Intranuclear function for protein phosphatase 2A: Pph21 and Pph22 are required for rapamycin-induced GATA factor binding to the DAL5 promoter in yeast. 61
20974806 2011
40
Fission yeast Swi1-Swi3 complex facilitates DNA binding of Mrc1. 61
20924116 2010
41
Distinct phosphatase requirements and GATA factor responses to nitrogen catabolite repression and rapamycin treatment in Saccharomyces cerevisiae. 61
20378536 2010
42
Adenovirus protein E4orf4 induces premature APCCdc20 activation in Saccharomyces cerevisiae by a protein phosphatase 2A-dependent mechanism. 61
20164229 2010
43
The Rts1 regulatory subunit of protein phosphatase 2A is required for control of G1 cyclin transcription and nutrient modulation of cell size. 61
19911052 2009
44
The protein phosphatase 2A functions in the spindle position checkpoint by regulating the checkpoint kinase Kin4. 61
19605686 2009
45
Interpreting spatial information and regulating mitosis in response to spindle orientation. 61
19605682 2009
46
Bacterial toxin HigB associates with ribosomes and mediates translation-dependent mRNA cleavage at A-rich sites. 61
19423702 2009
47
Schizosaccharomyces pombe Rtf2 mediates site-specific replication termination by inhibiting replication restart. 61
19416828 2009
48
Rapamycin-induced Gln3 dephosphorylation is insufficient for nuclear localization: Sit4 and PP2A phosphatases are regulated and function differently. 61
19015262 2009
49
Rtf1-mediated eukaryotic site-specific replication termination. 61
18723894 2008
50
The Aurora kinase Ipl1 maintains the centromeric localization of PP2A to protect cohesin during meiosis. 61
17371833 2007

Variations for Rothmund-Thomson Syndrome, Type 1

ClinVar genetic disease variations for Rothmund-Thomson Syndrome, Type 1:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANAPC1 NM_022662.4(ANAPC1):c.1778dup (p.Asn593fs)duplication Pathogenic 692105 2:112605314-112605315 2:111847737-111847738
2 ANAPC1 NM_022662.4(ANAPC1):c.4373+1G>ASNV Pathogenic 692106 2:112552394-112552394 2:111794817-111794817
3 ANAPC1 NM_022662.4(ANAPC1):c.2705-198C>TSNV Pathogenic/Likely pathogenic 692104 2:112582942-112582942 2:111825365-111825365
4 ANAPC1 NM_022662.4(ANAPC1):c.4880_4881AC[1] (p.Thr1628fs)short repeat no interpretation for the single variant 694499 2:112542971-112542972 2:111785394-111785395

Expression for Rothmund-Thomson Syndrome, Type 1

Search GEO for disease gene expression data for Rothmund-Thomson Syndrome, Type 1.

Pathways for Rothmund-Thomson Syndrome, Type 1

GO Terms for Rothmund-Thomson Syndrome, Type 1

Sources for Rothmund-Thomson Syndrome, Type 1

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