Silver-Russell Syndrome 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Gastrointestinal diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618908

OMIM Phenotypic Series ⁵⁷ PS180860

MeSH ⁴⁴ D056730

MedGen ⁴¹ C5394456 CN282530

SNOMED-CT via HPO ⁶⁸ 123983008 199612005 22033007 more

Sources

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)

Sources

Related Diseases for Silver-Russell Syndrome 5

Diseases in the Silver-Russell Syndrome 1 family:

Silver-Russell Syndrome 3	Silver-Russell Syndrome 2
Silver-Russell Syndrome 4	Silver-Russell Syndrome 5
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11
Silver-Russell Syndrome Due to a Point Mutation	Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7

Diseases related to Silver-Russell Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	silver-russell syndrome 1	10.1
2	diencephalic syndrome	10.1

Sources

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)

Sources

Drugs & Therapeutics for Silver-Russell Syndrome 5

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

Sources

Genetic Tests for Silver-Russell Syndrome 5

Sources

Anatomical Context for Silver-Russell Syndrome 5

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

⁴⁰

Bone

Sources

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	Costain G...Marshall CR	29453418	2018
2	A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. ⁶ ⁵⁷	De Crescenzo A...Riccio A	25809938	2015
3	12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature. ⁵⁷	Heldt F...Steinemann D	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	Leszinski GS...Wagner M	29655892	2018
5	Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. ⁶	Abi Habib W...Netchine I	28796236	2018
6	Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. ⁵⁷	Stavropoulos DJ...Marshall CR	28567303	2016
7	Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. ⁵⁷	Mari F...Superti-Furga A	19277063	2009
8	Auxin abolishes SHI-RELATED SEQUENCE5-mediated inhibition of lateral root development in Arabidopsis. ⁶¹	Yuan TT...Lu YT	31403703	2020
9	The COP1 Target SHI-RELATED SEQUENCE5 Directly Activates Photomorphogenesis-Promoting Genes. ⁶¹	Yuan TT...Lu YT	30150309	2018
10	Insights into molecular mechanisms of drug metabolism dysfunction of human CYP2C9*30. ⁶¹	Louet M...Miteva MA	29746595	2018
11	Overexpression of SRS5 improves grain size of brassinosteroid-related dwarf mutants in rice (Oryza sativa L.). ⁶¹	Segami S...Miura K	29085249	2017
12	Comparative Transcriptome Analysis between Gynoecious and Monoecious Plants Identifies Regulatory Networks Controlling Sex Determination in Jatropha curcas. ⁶¹	Chen MS...Xu ZF	28144243	2016
13	Molecular cloning and expression of CYP9A61: a chlorpyrifos-ethyl and lambda-cyhalothrin-inducible cytochrome P450 cDNA from Cydia pomonella. ⁶¹	Yang X...Zhang Y	24351812	2013
14	Small and round seed 5 gene encodes alpha-tubulin regulating seed cell elongation in rice. ⁶¹	Segami S...Iwasaki Y	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	Risco-Castillo V...Ortega-Mora LM	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	Ma Y...Freitas H	19232424	2009
17	Crystal structures of substrate-free and retinoic acid-bound cyanobacterial cytochrome P450 CYP120A1. ⁶¹	Kuhnel K...Schlichting I	18512957	2008
18	Helicoverpa zea CYP6B8 and CYP321A1: different molecular solutions to the problem of metabolizing plant toxins and insecticides. ⁶¹	Rupasinghe SG...Schuler MA	18065401	2007
19	Functionally redundant SHI family genes regulate Arabidopsis gynoecium development in a dose-dependent manner. ⁶¹	Kuusk S...Sundberg E	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	Kerdpin O...Miners JO	15196026	2004
21	Common active site architecture and binding strategy of four phenylpropanoid P450s from Arabidopsis thaliana as revealed by molecular modeling. ⁶¹	Rupasinghe S...Schuler MA	14600201	2003
22	Molecular docking of substrates and inhibitors in the catalytic site of CYP6B1, an insect cytochrome p450 monooxygenase. ⁶¹	Baudry J...Schuler MA	12968075	2003
23	Automated protein sequence database classification. I. Integration of compositional similarity search, local similarity search, and multiple sequence alignment. ⁶¹	Gracy J...Argos P	9545449	1998
24	UTRdb: a specialized database of 5'- and 3'-untranslated regions of eukaryotic mRNAs. ⁶¹	Pesole G...Saccone C	9399833	1998
25	Automated protein sequence database classification. II. Delineation Of domain boundaries from sequence similarities. ⁶¹	Gracy J...Argos P	9545450	1998
26	Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW). ⁶¹	Rakover Y...Cowell CT	8891553	1996

Sources

Genes for Silver-Russell Syndrome 5

Genes related to Silver-Russell Syndrome 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HMGA2	High Mobility Group AT-Hook 2	Protein Coding	908.21	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	28796236

Sources

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

Sources

Expression for Silver-Russell Syndrome 5

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

Sources

Pathways for Silver-Russell Syndrome 5

Sources

GO Terms for Silver-Russell Syndrome 5

Sources

Sources for Silver-Russell Syndrome 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Silver-Russell Syndrome 5 (SRS5)

Aliases & Classifications for Silver-Russell Syndrome 5

MalaCards integrated aliases for Silver-Russell Syndrome 5:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Silver-Russell Syndrome 5

Related Diseases for Silver-Russell Syndrome 5

Diseases in the Silver-Russell Syndrome 1 family:

Diseases related to Silver-Russell Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Silver-Russell Syndrome 5

Human phenotypes related to Silver-Russell Syndrome 5:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Publications for Silver-Russell Syndrome 5

Articles related to Silver-Russell Syndrome 5:

Genes for Silver-Russell Syndrome 5

Genes related to Silver-Russell Syndrome 5 (1 elite genes):

Variations for Silver-Russell Syndrome 5

ClinVar genetic disease variations for Silver-Russell Syndrome 5:

Expression for Silver-Russell Syndrome 5

Pathways for Silver-Russell Syndrome 5

GO Terms for Silver-Russell Syndrome 5

Sources for Silver-Russell Syndrome 5