MCID: SLV018
MIFTS: 17

Silver-Russell Syndrome Due to 11p15 Microduplication

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Silver-Russell Syndrome Due to 11p15 Microduplication

MalaCards integrated aliases for Silver-Russell Syndrome Due to 11p15 Microduplication:

Name: Silver-Russell Syndrome Due to 11p15 Microduplication 58

Characteristics:

Orphanet epidemiological data:

58
silver-russell syndrome due to 11p15 microduplication
Inheritance: Autosomal dominant,Not applicable;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Silver-Russell Syndrome Due to 11p15 Microduplication

MalaCards based summary : Silver-Russell Syndrome Due to 11p15 Microduplication is related to silver-russell syndrome due to an imprinting defect of 11p15 and beckwith-wiedemann syndrome. An important gene associated with Silver-Russell Syndrome Due to 11p15 Microduplication is H19 (H19 Imprinted Maternally Expressed Transcript). Affiliated tissues include eye, and related phenotypes are failure to thrive and delayed skeletal maturation

Related Diseases for Silver-Russell Syndrome Due to 11p15 Microduplication

Graphical network of the top 20 diseases related to Silver-Russell Syndrome Due to 11p15 Microduplication:



Diseases related to Silver-Russell Syndrome Due to 11p15 Microduplication

Symptoms & Phenotypes for Silver-Russell Syndrome Due to 11p15 Microduplication

Human phenotypes related to Silver-Russell Syndrome Due to 11p15 Microduplication:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
2 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
3 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
4 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
5 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
6 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
7 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
8 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
9 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
10 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
11 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
12 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
13 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
14 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
15 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
16 relative macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004482
17 severe intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008846
18 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
19 intrauterine growth retardation 58 Frequent (79-30%)

Drugs & Therapeutics for Silver-Russell Syndrome Due to 11p15 Microduplication

Search Clinical Trials , NIH Clinical Center for Silver-Russell Syndrome Due to 11p15 Microduplication

Genetic Tests for Silver-Russell Syndrome Due to 11p15 Microduplication

Anatomical Context for Silver-Russell Syndrome Due to 11p15 Microduplication

MalaCards organs/tissues related to Silver-Russell Syndrome Due to 11p15 Microduplication:

40
Eye

Publications for Silver-Russell Syndrome Due to 11p15 Microduplication

Variations for Silver-Russell Syndrome Due to 11p15 Microduplication

Expression for Silver-Russell Syndrome Due to 11p15 Microduplication

Search GEO for disease gene expression data for Silver-Russell Syndrome Due to 11p15 Microduplication.

Pathways for Silver-Russell Syndrome Due to 11p15 Microduplication

GO Terms for Silver-Russell Syndrome Due to 11p15 Microduplication

Biological processes related to Silver-Russell Syndrome Due to 11p15 Microduplication according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 8.62 IGF2 H19

Sources for Silver-Russell Syndrome Due to 11p15 Microduplication

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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