SRS4
MCID: SLV030
MIFTS: 14

Silver-Russell Syndrome 4 (SRS4)

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

Aliases & Classifications for Silver-Russell Syndrome 4

MalaCards integrated aliases for Silver-Russell Syndrome 4:

Name: Silver-Russell Syndrome 4 56 6
Srs4 56

Classifications:



External Ids:

OMIM 56 618907
OMIM Phenotypic Series 56 PS180860

Summaries for Silver-Russell Syndrome 4

OMIM : 56 Silver-Russell syndrome-4 (SRS4) is characterized by intrauterine growth retardation followed by feeding difficulties and postnatal growth restriction. Dysmorphic facial features include triangular face and prominent forehead, and relative macrocephaly at birth may be observed (Abi Habib et al., 2018). For a discussion of genetic heterogeneity of Silver-Russell syndrome, see SRS1 (180860). (618907)

MalaCards based summary : Silver-Russell Syndrome 4, is also known as srs4. An important gene associated with Silver-Russell Syndrome 4 is PLAG1 (PLAG1 Zinc Finger).

Related Diseases for Silver-Russell Syndrome 4

Symptoms & Phenotypes for Silver-Russell Syndrome 4

Clinical features from OMIM:

618907

Drugs & Therapeutics for Silver-Russell Syndrome 4

Search Clinical Trials , NIH Clinical Center for Silver-Russell Syndrome 4

Genetic Tests for Silver-Russell Syndrome 4

Anatomical Context for Silver-Russell Syndrome 4

Publications for Silver-Russell Syndrome 4

Articles related to Silver-Russell Syndrome 4:

(showing 15, show less)
# Title Authors PMID Year
1
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. 56
28796236 2018
2
Identification and Molecular Analysis of Four New Alleles at the W1 Locus Associated with Flower Color in Soybean. 61
27442124 2016
3
rbcS SRS4 promoter from Glycine max and its expression activity in transgenic tobacco. 61
26214418 2015
4
Analysis of the ergosterol biosynthesis pathway cloning, molecular characterization and phylogeny of lanosterol 14 α-demethylase (ERG11) gene of Moniliophthora perniciosa. 61
25505843 2014
5
The extracellular matrix protein mindin as a novel adjuvant elicits stronger immune responses for rBAG1, rSRS4 and rSRS9 antigens of Toxoplasma gondii in BALB/c mice. 61
25091724 2014
6
Molecular cloning and expression of CYP9A61: a chlorpyrifos-ethyl and lambda-cyhalothrin-inducible cytochrome P450 cDNA from Cydia pomonella. 61
24351812 2013
7
Comparative molecular modeling of Anopheles gambiae CYP6Z1, a mosquito P450 capable of metabolizing DDT. 61
18577597 2008
8
Functionally redundant SHI family genes regulate Arabidopsis gynoecium development in a dose-dependent manner. 61
16740146 2006
9
Common active site architecture and binding strategy of four phenylpropanoid P450s from Arabidopsis thaliana as revealed by molecular modeling. 61
14600201 2003
10
Degradation of the soybean ribulose-1,5-bisphosphate carboxylase small-subunit mRNA, SRS4, initiates with endonucleolytic cleavage. 61
8524229 1995
11
Faithful degradation of soybean rbcS mRNA in vitro. 61
8139564 1994
12
Degradation products of the mRNA encoding the small subunit of ribulose-1,5-bisphosphate carboxylase in soybean and transgenic petunia. 61
1356050 1992
13
Comparison of the expression of two highly homologous members of the soybean ribulose-1,5-bisphosphate carboxylase small subunit gene family. 61
1715210 1990
14
5' proximal sequences of a soybean ribulose-1,5-bisphosphate carboxylase small subunit gene direct light and phytochrome controlled transcription. 61
3627996 1987
15
Two soybean ribulose-1,5-bisphosphate carboxylase small subunit genes share extensive homology even in distant flanking sequences. 61
24302473 1986

Variations for Silver-Russell Syndrome 4

ClinVar genetic disease variations for Silver-Russell Syndrome 4:

6 (showing 2, show less) ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLAG1 NM_002655.3(PLAG1):c.1363del (p.Gln455fs)deletion Pathogenic 253033 rs1114167318 8:57078942-57078942 8:56166383-56166383
2 PLAG1 NM_002655.3(PLAG1):c.439del (p.Ser147fs)deletion Pathogenic 253204 rs1114167317 8:57079866-57079866 8:56167307-56167307

Expression for Silver-Russell Syndrome 4

Search GEO for disease gene expression data for Silver-Russell Syndrome 4.

Pathways for Silver-Russell Syndrome 4

GO Terms for Silver-Russell Syndrome 4

Sources for Silver-Russell Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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48 NCI
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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
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