RTS1
MCID: RTH007
MIFTS: 24

Rothmund-Thomson Syndrome, Type 1 (RTS1)

Categories: 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
Poikiloderma Atrophicans and Cataract 56
Rts1 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 56 618625
OMIM Phenotypic Series 56 PS268400

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 poikiloderma atrophicans and cataract, is related to rothmund-thomson syndrome, type 2 and autosomal recessive disease. An important gene associated with Rothmund-Thomson Syndrome, Type 1 is ANAPC1 (Anaphase Promoting Complex Subunit 1). Affiliated tissues include bone and skin.

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:

# Related Disease Score Top Affiliating Genes
1 rothmund-thomson syndrome, type 2 12.1
2 autosomal recessive disease 10.3
3 cataract 10.3
4 overgrowth syndrome 10.3

Symptoms & Phenotypes for Rothmund-Thomson Syndrome, Type 1

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)

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

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

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)

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)

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

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

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
Bone, Skin

Publications for Rothmund-Thomson Syndrome, Type 1

Articles related to Rothmund-Thomson Syndrome, Type 1:

(show top 50) (show all 134)
# Title Authors PMID Year
1
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. 56 61 6
31303264 2019
2
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 56
12734318 2003
3
Cdc14 and PP2A Phosphatases Cooperate to Shape Phosphoproteome Dynamics during Mitotic Exit. 61
31722221 2019
4
A Conserved PP2A Regulatory Subunit Enforces Proportional Relationships Between Cell Size and Growth Rate. 61
31488515 2019
5
The PP2A regulatory subunits, Cdc55 and Rts1, play distinct roles in Candida albicans' growth, morphogenesis, and virulence. 61
31185286 2019
6
Sit4 and PP2A Dephosphorylate Nitrogen Catabolite Repression-Sensitive Gln3 When TorC1 Is Up- as Well as Downregulated. 61
31213504 2019
7
Screening a genomic library for genes involved in propionate tolerance in Yarrowia lipolytica. 61
31293017 2019
8
Structural basis of transcriptional regulation by the HigA antitoxin. 61
30793388 2019
9
The PCNA unloader Elg1 promotes recombination at collapsed replication forks in fission yeast. 61
31149897 2019
10
Spo13 prevents premature cohesin cleavage during meiosis. 61
30906881 2019
11
Yeast Lacking the PP2A Phosphatase Regulatory Subunit Rts1 Sensitizes rad51 Mutants to Specific DNA Damaging Agents. 61
31781172 2019
12
An interplay between Shugoshin and Spo13 for centromeric cohesin protection and sister kinetochore mono-orientation during meiosis I in Saccharomyces cerevisiae. 61
29644457 2018
13
Connecting GCN5's centromeric SAGA to the mitotic tension-sensing checkpoint. 61
29995571 2018
14
Investigating the role of Rts1 in DNA replication initiation. 61
29721551 2018
15
Cell Size and Growth Rate Are Modulated by TORC2-Dependent Signals. 61
29290562 2018
16
Ribosome-dependent Vibrio cholerae mRNAse HigB2 is regulated by a β-strand sliding mechanism. 61
28334932 2017
17
Premature Silencing of the Spindle Assembly Checkpoint Is Prevented by the Bub1-H2A-Sgo1-PP2A Axis in Saccharomyces cerevisiae. 61
28040741 2017
18
Promotion of Cell Viability and Histone Gene Expression by the Acetyltransferase Gcn5 and the Protein Phosphatase PP2A in Saccharomyces cerevisiae. 61
27317677 2016
19
Redundant Regulation of Cdk1 Tyrosine Dephosphorylation in Saccharomyces cerevisiae. 61
26715668 2016
20
Orchestrated Action of PP2A Antagonizes Atg13 Phosphorylation and Promotes Autophagy after the Inactivation of TORC1. 61
27973551 2016
21
Recombination occurs within minutes of replication blockage by RTS1 producing restarted forks that are prone to collapse. 61
25806683 2015
22
Analyzing the Response to Dysfunction Replication Forks Using the RTS1 Barrier System in Fission Yeast. 61
25916716 2015
23
The Rts1 regulatory subunit of PP2A phosphatase controls expression of the HO endonuclease via localization of the Ace2 transcription factor. 61
25352596 2014
24
Sgo1 recruits PP2A to chromosomes to ensure sister chromatid bi-orientation during mitosis. 61
25236599 2014
25
Tension-dependent removal of pericentromeric shugoshin is an indicator of sister chromosome biorientation. 61
24939933 2014
26
Sgo1 regulates both condensin and Ipl1/Aurora B to promote chromosome biorientation. 61
24945276 2014
27
PP2ARts1 is a master regulator of pathways that control cell size. 61
24493588 2014
28
Protein phosphatase 2A regulatory subunits perform distinct functional roles in the maize pathogen Fusarium verticillioides. 61
23452277 2013
29
Rts1-protein phosphatase 2A antagonizes Ptr3-mediated activation of the signaling protease Ssy5 by casein kinase I. 61
23447701 2013
30
Slx8 removes Pli1-dependent protein-SUMO conjugates including SUMOylated topoisomerase I to promote genome stability. 61
23936535 2013
31
Centromere binding and a conserved role in chromosome stability for SUMO-dependent ubiquitin ligases. 61
23785440 2013
32
Glucose-induced posttranslational activation of protein phosphatases PP2A and PP1 in yeast. 61
22290422 2012
33
Chemical genetic profiling of the microtubule-targeting agent peloruside A in budding yeast Saccharomyces cerevisiae. 61
22326528 2012
34
TORC2 signaling is antagonized by protein phosphatase 2A and the Far complex in Saccharomyces cerevisiae. 61
22298706 2012
35
Identification and characterization of genes involved in glutathione production in yeast. 61
21601516 2011
36
Cdc55 coordinates spindle assembly and chromosome disjunction during meiosis. 61
21690308 2011
37
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
38
Fission yeast Swi1-Swi3 complex facilitates DNA binding of Mrc1. 61
20924116 2010
39
Distinct phosphatase requirements and GATA factor responses to nitrogen catabolite repression and rapamycin treatment in Saccharomyces cerevisiae. 61
20378536 2010
40
Adenovirus protein E4orf4 induces premature APCCdc20 activation in Saccharomyces cerevisiae by a protein phosphatase 2A-dependent mechanism. 61
20164229 2010
41
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
42
The protein phosphatase 2A functions in the spindle position checkpoint by regulating the checkpoint kinase Kin4. 61
19605686 2009
43
Interpreting spatial information and regulating mitosis in response to spindle orientation. 61
19605682 2009
44
Bacterial toxin HigB associates with ribosomes and mediates translation-dependent mRNA cleavage at A-rich sites. 61
19423702 2009
45
Schizosaccharomyces pombe Rtf2 mediates site-specific replication termination by inhibiting replication restart. 61
19416828 2009
46
Rapamycin-induced Gln3 dephosphorylation is insufficient for nuclear localization: Sit4 and PP2A phosphatases are regulated and function differently. 61
19015262 2009
47
Rtf1-mediated eukaryotic site-specific replication termination. 61
18723894 2008
48
The Aurora kinase Ipl1 maintains the centromeric localization of PP2A to protect cohesin during meiosis. 61
17371833 2007
49
Development of real-time reverse transcriptase PCR assays to detect and serotype dengue viruses. 61
16597854 2006
50
Deletion of RTS1, encoding a regulatory subunit of protein phosphatase 2A, results in constitutive amino acid signaling via increased Stp1p processing. 61
16400180 2006

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

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