SRS2
MCID: SLV029
MIFTS: 26

Silver-Russell Syndrome 2 (SRS2)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Silver-Russell Syndrome 2

MalaCards integrated aliases for Silver-Russell Syndrome 2:

Name: Silver-Russell Syndrome 2 57
Uniparental Disomy, Maternal, Chromosome 7 57
Srs2 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
genetic heterogeneity
approximately 10% srs patients have maternal upd7

Inheritance:
autosomal dominant (loss of paternal allele)


HPO:

31
silver-russell syndrome 2:
Inheritance contiguous gene syndrome uniparental isodisomy


Classifications:



Summaries for Silver-Russell Syndrome 2

OMIM® : 57 Silver-Russell syndrome-2 (SRS2) is characterized by pre- and postnatal growth retardation, with relative sparing of cranial growth, triangular facies, and downturned corners of the mouth. Fifth-finger clinodactyly and facial, limb, or truncal asymmetry are also frequently present (summary by Monk et al., 2000). For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860). (618905) (Updated 05-Mar-2021)

MalaCards based summary : Silver-Russell Syndrome 2, also known as uniparental disomy, maternal, chromosome 7, is related to werner syndrome and bloom syndrome. An important gene associated with Silver-Russell Syndrome 2 is SRS2 (Silver-Russell Syndrome 2). Affiliated tissues include bone, brain and breast, and related phenotypes are frontal bossing and hyperhidrosis

Related Diseases for Silver-Russell Syndrome 2

Graphical network of the top 20 diseases related to Silver-Russell Syndrome 2:



Diseases related to Silver-Russell Syndrome 2

Symptoms & Phenotypes for Silver-Russell Syndrome 2

Human phenotypes related to Silver-Russell Syndrome 2:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 very rare (1%) HP:0002007
2 hyperhidrosis 31 very rare (1%) HP:0000975
3 delayed skeletal maturation 31 very rare (1%) HP:0002750
4 short stature 31 very rare (1%) HP:0004322
5 intrauterine growth retardation 31 very rare (1%) HP:0001511
6 micrognathia 31 very rare (1%) HP:0000347
7 downturned corners of mouth 31 very rare (1%) HP:0002714
8 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
9 blue sclerae 31 very rare (1%) HP:0000592
10 triangular face 31 very rare (1%) HP:0000325
11 neonatal hypoglycemia 31 very rare (1%) HP:0001998
12 mild global developmental delay 31 very rare (1%) HP:0011342
13 relative macrocephaly 31 very rare (1%) HP:0004482
14 thin skin 31 very rare (1%) HP:0000963
15 2-3 toe syndactyly 31 very rare (1%) HP:0004691
16 delayed closure of the anterior fontanelle 31 very rare (1%) HP:0001476

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Neck:
short neck

Head And Neck Face:
prominent forehead
broad forehead
triangular face
craniofacial disproportion
prominent philtrum

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Hands:
fifth finger clinodactyly
fifth finger brachydactyly

Abdomen Gastrointestinal:
feeding problems

Growth Weight:
low birth weight

Skeletal Limbs:
asymmetry of arms and/or legs

Laboratory Abnormalities:
maternal uniparental disomy of chromosome 7 (upd7)

Growth Height:
short stature

Growth Other:
intrauterine growth retardation
postnatal growth retardation
small for gestational age

Head And Neck Head:
relative macrocephaly

Skeletal:
delayed bone age

Neurologic Central Nervous System:
speech delay
motor development delay

Head And Neck Teeth:
delayed dentition

Skin Nails Hair Skin:
excessive sweating

Clinical features from OMIM®:

618905 (Updated 05-Mar-2021)

Drugs & Therapeutics for Silver-Russell Syndrome 2

Search Clinical Trials , NIH Clinical Center for Silver-Russell Syndrome 2

Genetic Tests for Silver-Russell Syndrome 2

Anatomical Context for Silver-Russell Syndrome 2

MalaCards organs/tissues related to Silver-Russell Syndrome 2:

40
Bone, Brain, Breast

Publications for Silver-Russell Syndrome 2

Articles related to Silver-Russell Syndrome 2:

(show top 50) (show all 280)
# Title Authors PMID Year
1
Methylation profiling in individuals with Russell-Silver syndrome. 57
20082469 2010
2
Myoclonus-dystonia due to maternal uniparental disomy. 57
18852357 2008
3
The genetic aetiology of Silver-Russell syndrome. 57
18156438 2008
4
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. 57
17033973 2006
5
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. 57
12384779 2002
6
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. 57
12210300 2002
7
Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. 57
11829489 2002
8
Evidence against GRB10 as the gene responsible for Silver-Russell syndrome. 57
11527390 2001
9
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? 57
11370636 2001
10
No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome. 57
11252004 2001
11
Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. 57
11313740 2001
12
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. 57
11112662 2001
13
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. 57
10856193 2000
14
Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome. 57
10691413 2000
15
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. 57
10631135 2000
16
Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. 57
10987657 1999
17
Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. 57
9448292 1998
18
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. 57
9272165 1997
19
Maternal uniparental disomy 7 in Silver-Russell syndrome. 57
9032641 1997
20
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. 57
7633407 1995
21
Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. 57
7913578 1994
22
The Srs2 helicase dampens DNA damage checkpoint by recycling RPA from chromatin. 61
33602817 2021
23
The Rad51 paralog complex Rad55-Rad57 acts as a molecular chaperone during homologous recombination. 61
33421364 2021
24
Prevention of unwanted recombination at damaged replication forks. 61
32671464 2020
25
A Rad51-independent pathway promotes single-strand template repair in gene editing. 61
33057349 2020
26
How yeast cells deal with stalled replication forks. 61
32394094 2020
27
Stereotactic reirradiation for local failure of brain metastases following previous radiosurgery: Systematic review and meta-analysis. 61
32650217 2020
28
Access to PCNA by Srs2 and Elg1 Controls the Choice between Alternative Repair Pathways in Saccharomyces cerevisiae. 61
32371600 2020
29
S. cerevisiae Srs2 helicase ensures normal recombination intermediate metabolism during meiosis and prevents accumulation of Rad51 aggregates. 61
31069484 2019
30
Srs2 helicase prevents the formation of toxic DNA damage during late prophase I of yeast meiosis. 61
31168653 2019
31
Role of the Srs2-Rad51 Interaction Domain in Crossover Control in Saccharomyces cerevisiae. 61
31142613 2019
32
The PCNA unloader Elg1 promotes recombination at collapsed replication forks in fission yeast. 61
31149897 2019
33
Transcriptomic Signatures in Sepsis and a Differential Response to Steroids. From the VANISH Randomized Trial. 61
30365341 2019
34
Fractionated stereotactic radiosurgery for locally recurrent brain metastases after failed stereotactic radiosurgery. 61
31062735 2019
35
Dynamic Processing of Displacement Loops during Recombinational DNA Repair. 61
30737186 2019
36
Factors affecting template switch recombination associated with restarted DNA replication. 61
30667359 2019
37
Fanconi Anaemia-Like Mph1 Helicase Backs up Rad54 and Rad5 to Circumvent Replication Stress-Driven Chromosome Bridges. 61
30453647 2018
38
Meiosis-specific recombinase Dmc1 is a potent inhibitor of the Srs2 antirecombinase. 61
30301803 2018
39
Analysis of Toxoplasma gondii clonal type-specific antibody reactions in experimentally infected turkeys and chickens. 61
29969590 2018
40
The Main Role of Srs2 in DNA Repair Depends on Its Helicase Activity, Rather than on Its Interactions with PCNA or Rad51. 61
30018112 2018
41
Rad52-Rad51 association is essential to protect Rad51 filaments against Srs2, but facultative for filament formation. 61
29985128 2018
42
Tight Regulation of Srs2 Helicase Activity Is Crucial for Proper Functioning of DNA Repair Mechanisms. 61
29531123 2018
43
Resolving the Gordian Knot: Srs2 Strips Intermediates Formed during Homologous Recombination. 61
29290471 2018
44
Single-Stranded DNA Curtains for Studying the Srs2 Helicase Using Total Internal Reflection Fluorescence Microscopy. 61
29458768 2018
45
Probing Dynamic Assembly and Disassembly of Rad51 Tuned by Srs2 Using smFRET. 61
29458765 2018
46
Second course of stereotactic radiosurgery for locally recurrent brain metastases: Safety and efficacy. 61
29621341 2018
47
Sgs1 Binding to Rad51 Stimulates Homology-Directed DNA Repair in Saccharomyces cerevisiae. 61
29162625 2018
48
Transduction of a Neospora caninum antigen gene into mammalian cells using a modified Bombyx mori nucleopolyhedrovirus for antibody production. 61
28716628 2017
49
Dissociation of Rad51 Presynaptic Complexes and Heteroduplex DNA Joints by Tandem Assemblies of Srs2. 61
29241544 2017
50
Break-induced replication promotes formation of lethal joint molecules dissolved by Srs2. 61
29176630 2017

Variations for Silver-Russell Syndrome 2

Expression for Silver-Russell Syndrome 2

Search GEO for disease gene expression data for Silver-Russell Syndrome 2.

Pathways for Silver-Russell Syndrome 2

GO Terms for Silver-Russell Syndrome 2

Sources for Silver-Russell Syndrome 2

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57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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