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	russell silver syndrome

Disease ID	582
Disease	russell silver syndrome
Definition	Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
Synonym	dwarfism, silver russell dwarfism, silver-russell rss russell silvers syndrome russell syndrome russell's syndrome russell-silver dwarfism russell-silver syndrome russell-silver syndrome (disorder) silver russell dwarfism silver russell syndrome silver syndrome silver-russell dwarfism silver-russell syndrome silver-russell syndrome [disease/finding] silvers syndrome srs syndrome, russell silver syndrome, silver-russell
Orphanet	ORPHANET:813 ORPHANET:1672 ORPHANET:100998
OMIM	OMIM:180860 OMIM:270685 OMIM:309583 OMIM:602771
DOID	DOID:14681
UMLS	C0175693
MeSH	D056730
SNOMED-CT	SNOMEDCT_US_2016_09_01:15069006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0004153 \| atherosclerosis \| 1 C0036341 \| schizophrenia \| 1 C0013338 \| growth hormone deficiency \| 1 C0013421 \| dystonia \| 1 C0162849 \| lichen nitidus \| 1 C0031046 \| pericarditis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 3481 \| IGF2 \| CTD_human;GHR;UNIPROT 93986 \| FOXP2 \| CTD_human 4232 \| MEST \| UNIPROT 283120 \| H19 \| CTD_human 2689 \| GH2 \| CTD_human 1442 \| CSH1 \| CTD_human 26958 \| COPG2 \| UNIPROT 140821 \| RSS \| CTD_human 2887 \| GRB10 \| UNIPROT 51200 \| CPA4 \| UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 26580 \| BSCL2 \| CIPHER 140690 \| CTCFL \| CIPHER 3481 \| IGF2 \| CTD_human 93986 \| FOXP2 \| CTD_human 2689 \| GH2 \| CTD_human 1442 \| CSH1 \| CTD_human 140821 \| RSS \| CTD_human 283120 \| H19 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:66) 65985 \| AACS \| 2.233 \| DISEASES 23545 \| ATP6V0A2 \| 1.729 \| DISEASES 617 \| BCS1L \| 1.063 \| DISEASES 1028 \| CDKN1C \| 5.024 \| DISEASES 26958 \| COPG2 \| 5.554 \| DISEASES 53844 \| COPG2IT1 \| 4.114 \| DISEASES 93979 \| CPA5 \| 3.137 \| DISEASES 9820 \| CUL7 \| 3.397 \| DISEASES 1644 \| DDC \| 1.082 \| DISEASES 9077 \| DIRAS3 \| 1.846 \| DISEASES 8788 \| DLK1 \| 3.078 \| DISEASES 1760 \| DMPK \| 1.074 \| DISEASES 1786 \| DNMT1 \| 1.219 \| DISEASES 1826 \| DSCAM \| 2.158 \| DISEASES 1781 \| DYNC1I2 \| 1.691 \| DISEASES 1859 \| DYRK1A \| 1.107 \| DISEASES 26240 \| FAM50B \| 4.348 \| DISEASES 93986 \| FOXP2 \| 1.407 \| DISEASES 2596 \| GAP43 \| 1.021 \| DISEASES 2689 \| GH2 \| 1.888 \| DISEASES 2741 \| GLRA1 \| 2.171 \| DISEASES 2778 \| GNAS \| 1.962 \| DISEASES 149775 \| GNAS-AS1 \| 2.41 \| DISEASES 9402 \| GRAP2 \| 3.088 \| DISEASES 2887 \| GRB10 \| 6.099 \| DISEASES 2885 \| GRB2 \| 1.794 \| DISEASES 2886 \| GRB7 \| 3.159 \| DISEASES 3109 \| HLA-DMB \| 1.536 \| DISEASES 8091 \| HMGA2 \| 2.398 \| DISEASES 29911 \| HOOK2 \| 2.841 \| DISEASES 3201 \| HOXA4 \| 2.337 \| DISEASES 3481 \| IGF2 \| 5.374 \| DISEASES 51214 \| IGF2-AS \| 2.76 \| DISEASES 3482 \| IGF2R \| 3.001 \| DISEASES 3483 \| IGFALS \| 2.37 \| DISEASES 3486 \| IGFBP3 \| 3.537 \| DISEASES 3753 \| KCNE1 \| 1.011 \| DISEASES 10984 \| KCNQ1OT1 \| 5.358 \| DISEASES 4205 \| MEF2A \| 1.182 \| DISEASES 4208 \| MEF2C \| 1.277 \| DISEASES 55384 \| MEG3 \| 3.395 \| DISEASES 317751 \| MESTIT1 \| 5.152 \| DISEASES 79903 \| NAA60 \| 3.316 \| DISEASES 55655 \| NLRP2 \| 2.293 \| DISEASES 199713 \| NLRP7 \| 2.135 \| DISEASES 64324 \| NSD1 \| 1.464 \| DISEASES 23363 \| OBSL1 \| 3.874 \| DISEASES 5078 \| PAX4 \| 1.476 \| DISEASES 23089 \| PEG10 \| 2.527 \| DISEASES 5178 \| PEG3 \| 2.843 \| DISEASES 5230 \| PGK1 \| 1.204 \| DISEASES 5324 \| PLAG1 \| 1.617 \| DISEASES 5325 \| PLAGL1 \| 3.535 \| DISEASES 5493 \| PPL \| 1.306 \| DISEASES 1827 \| RCAN1 \| 1.496 \| DISEASES 51128 \| SAR1B \| 2.244 \| DISEASES 8910 \| SGCE \| 3.836 \| DISEASES 9152 \| SLC6A5 \| 2.205 \| DISEASES 6714 \| SRC \| 1.011 \| DISEASES 64426 \| SUDS3 \| 4.079 \| DISEASES 136306 \| SVOPL \| 4.12 \| DISEASES 7716 \| VEZF1 \| 2.391 \| DISEASES 7485 \| WRB \| 2.239 \| DISEASES 7503 \| XIST \| 1.614 \| DISEASES 346171 \| ZFP57 \| 3.893 \| DISEASES 7310 \| ZRSR1 \| 3.367 \| DISEASES
Locus	(Waiting for update.)

Disease ID	582
Disease	russell silver syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0000325 \| Triangular face \| 1 HP:0001332 \| Dystonia \| 1 HP:0003693 \| Muscle atrophy, distal \| 1 HP:0004943 \| Accelerated atherosclerosis \| 1 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0100753 \| Schizophrenia \| 1 HP:0001701 \| Pericarditis \| 1 HP:0100790 \| Hernia \| 1 HP:0008897 \| Growth retardation as children \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0000729 \| Pervasive developmental disorder \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0001336 \| Myoclonic jerks \| 1

Disease ID	582
Disease	russell silver syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0013338 \| growth hormone deficiency \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs137852972	20598714	26580	BSCL2	umls:C0175693	BeFree	N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.	0.002714419	2010	BSCL2;HNRNPUL2-BSCL2	11	62702499	T	C
rs137852973	17486577	26580	BSCL2	umls:C0175693	BeFree	We studied the first Korean families with clinical features resembling classic Silver syndrome and dHMN type V. Direct sequencing analysis of the BSCL2 gene revealed a Ser90Leu mutation in the proband, a younger sister, and one of two sons of the proband.	0.002714419	2007	BSCL2;HNRNPUL2-BSCL2	11	62702493	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	582
Disease	russell silver syndrome
Case	(Waiting for update.)

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