SRS5
MCID: SLV031
MIFTS: 24

Silver-Russell Syndrome 5 (SRS5)

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

Aliases & Classifications for Silver-Russell Syndrome 5

MalaCards integrated aliases for Silver-Russell Syndrome 5:

Name: Silver-Russell Syndrome 5 57 73 6
Srs5 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
silver-russell syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618908
OMIM Phenotypic Series 57 PS180860
MeSH 44 D056730

Summaries for Silver-Russell Syndrome 5

UniProtKB/Swiss-Prot : 73 Silver-Russell syndrome 5: A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS5 inheritance is autosomal dominant.

MalaCards based summary : Silver-Russell Syndrome 5, also known as srs5, is related to silver-russell syndrome 1 and diencephalic syndrome. An important gene associated with Silver-Russell Syndrome 5 is HMGA2 (High Mobility Group AT-Hook 2). Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and feeding difficulties in infancy

OMIM® : 57 Silver-Russell syndrome-5 (SRS5) is characterized by intrauterine growth retardation, with feeding difficulties in early childhood and postnatal growth failure. Relative macrocephaly may be present at birth. Other dysmorphic features include triangular face with prominent forehead (De Crescenzo et al., 2015). For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860). (618908) (Updated 05-Mar-2021)

Related Diseases for Silver-Russell Syndrome 5

Symptoms & Phenotypes for Silver-Russell Syndrome 5

Human phenotypes related to Silver-Russell Syndrome 5:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 very rare (1%) HP:0002750
2 feeding difficulties in infancy 31 very rare (1%) HP:0008872
3 prominent forehead 31 very rare (1%) HP:0011220
4 intrauterine growth retardation 31 very rare (1%) HP:0001511
5 triangular face 31 very rare (1%) HP:0000325
6 relative macrocephaly 31 very rare (1%) HP:0004482
7 small for gestational age 31 very rare (1%) HP:0001518
8 birth length less than 3rd percentile 31 very rare (1%) HP:0003561

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Height:
short stature
reduced length at birth

Head And Neck Face:
prominent forehead
triangular face

Skeletal:
delayed bone age

Growth Weight:
low weight at birth
postnatal low weight

Skeletal Feet:
syndactyly, 2-3 toe

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties (during early childhood)

Growth Other:
intrauterine growth retardation
postnatal growth retardation

Skeletal Hands:
fifth-finger clinodactyly
fifth-finger brachydactyly

Head And Neck Head:
relative macrocephaly at birth

Muscle Soft Tissue:
reduced muscle volume

Clinical features from OMIM®:

618908 (Updated 05-Mar-2021)

Drugs & Therapeutics for Silver-Russell Syndrome 5

Search Clinical Trials , NIH Clinical Center for Silver-Russell Syndrome 5

Genetic Tests for Silver-Russell Syndrome 5

Anatomical Context for Silver-Russell Syndrome 5

MalaCards organs/tissues related to Silver-Russell Syndrome 5:

40
Bone

Publications for Silver-Russell Syndrome 5

Articles related to Silver-Russell Syndrome 5:

(show all 26)
# Title Authors PMID Year
1
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. 6 57
29453418 2018
2
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. 6 57
25809938 2015
3
12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature. 57
29501611 2018
4
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. 57
29655892 2018
5
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. 6
28796236 2018
6
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. 57
28567303 2016
7
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. 57
19277063 2009
8
Auxin abolishes SHI-RELATED SEQUENCE5-mediated inhibition of lateral root development in Arabidopsis. 61
31403703 2020
9
The COP1 Target SHI-RELATED SEQUENCE5 Directly Activates Photomorphogenesis-Promoting Genes. 61
30150309 2018
10
Insights into molecular mechanisms of drug metabolism dysfunction of human CYP2C9*30. 61
29746595 2018
11
Overexpression of SRS5 improves grain size of brassinosteroid-related dwarf mutants in rice (Oryza sativa L.). 61
29085249 2017
12
Comparative Transcriptome Analysis between Gynoecious and Monoecious Plants Identifies Regulatory Networks Controlling Sex Determination in Jatropha curcas. 61
28144243 2016
13
Molecular cloning and expression of CYP9A61: a chlorpyrifos-ethyl and lambda-cyhalothrin-inducible cytochrome P450 cDNA from Cydia pomonella. 61
24351812 2013
14
Small and round seed 5 gene encodes alpha-tubulin regulating seed cell elongation in rice. 61
24764504 2012
15
Identification of a gene cluster for cell-surface genes of the SRS superfamily in Neospora caninum and characterization of the novel SRS9 gene. 61
21939586 2011
16
Isolation and characterization of Ni mobilizing PGPB from serpentine soils and their potential in promoting plant growth and Ni accumulation by Brassica spp. 61
19232424 2009
17
Crystal structures of substrate-free and retinoic acid-bound cyanobacterial cytochrome P450 CYP120A1. 61
18512957 2008
18
Helicoverpa zea CYP6B8 and CYP321A1: different molecular solutions to the problem of metabolizing plant toxins and insecticides. 61
18065401 2007
19
Functionally redundant SHI family genes regulate Arabidopsis gynoecium development in a dose-dependent manner. 61
16740146 2006
20
Differential contribution of active site residues in substrate recognition sites 1 and 5 to cytochrome P450 2C8 substrate selectivity and regioselectivity. 61
15196026 2004
21
Common active site architecture and binding strategy of four phenylpropanoid P450s from Arabidopsis thaliana as revealed by molecular modeling. 61
14600201 2003
22
Molecular docking of substrates and inhibitors in the catalytic site of CYP6B1, an insect cytochrome p450 monooxygenase. 61
12968075 2003
23
Automated protein sequence database classification. I. Integration of compositional similarity search, local similarity search, and multiple sequence alignment. 61
9545449 1998
24
UTRdb: a specialized database of 5'- and 3'-untranslated regions of eukaryotic mRNAs. 61
9399833 1998
25
Automated protein sequence database classification. II. Delineation Of domain boundaries from sequence similarities. 61
9545450 1998
26
Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW). 61
8891553 1996

Variations for Silver-Russell Syndrome 5

ClinVar genetic disease variations for Silver-Russell Syndrome 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HMGA2 NM_003483.4(HMGA2):c.193C>T (p.Gln65Ter) SNV Pathogenic 253034 rs1114167319 12:66221862-66221862 12:65828082-65828082
2 HMGA2 NM_003483.4(HMGA2):c.189del (p.Ala64fs) Deletion Pathogenic 253035 rs1114167320 12:66221858-66221858 12:65828078-65828078
3 HMGA2 NM_003483.6(HMGA2):c.303del (p.Ser102fs) Deletion Pathogenic 917507 12:66357044-66357044 12:65963264-65963264
4 HMGA2 NM_003483.6(HMGA2):c.283-6_283del Deletion Pathogenic 917504 12:66357018-66357024 12:65963238-65963244

Expression for Silver-Russell Syndrome 5

Search GEO for disease gene expression data for Silver-Russell Syndrome 5.

Pathways for Silver-Russell Syndrome 5

GO Terms for Silver-Russell Syndrome 5

Sources for Silver-Russell Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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