MCID: SLV022
MIFTS: 21

Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

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

Aliases & Classifications for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Summaries for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

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

Related Diseases for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

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 Due to an Imprinting Defect of 11p15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome due to 11p15 microduplication 9.8 IGF2 H19
2 beckwith-wiedemann syndrome 9.8 IGF2 H19
3 beckwith-wiedemann syndrome due to imprinting defect of 11p15 9.8 IGF2 H19
4 pax6-related aniridia 9.8 IGF2 H19
5 hemihyperplasia, isolated 9.8 IGF2 H19
6 wilms tumor predisposition 9.8 IGF2 H19
7 fetal macrosomia 9.8 IGF2 H19
8 umbilical hernia 9.8 IGF2 H19
9 gestational trophoblastic neoplasm 9.8 IGF2 H19
10 silver-russell syndrome 1 9.8 IGF2 H19
11 adrenal cortical carcinoma 9.8 IGF2 H19
12 germ cell cancer 9.8 IGF2 H19
13 choriocarcinoma 9.8 IGF2 H19
14 hepatoblastoma 9.8 IGF2 H19
15 embryonal carcinoma 9.8 IGF2 H19
16 osteogenic sarcoma 9.8 IGF2 H19
17 meningioma, familial 9.8 IGF2 H19
18 prader-willi syndrome 9.8 IGF2 H19
19 pre-eclampsia 9.7 IGF2 H19
20 wilms tumor 1 9.7 IGF2 H19
21 pheochromocytoma 9.7 IGF2 H19
22 rhabdomyosarcoma 9.7 IGF2 H19
23 neural tube defects 9.7 IGF2 H19
24 medulloblastoma 9.6 IGF2 H19
25 neuroblastoma 9.6 IGF2 H19
26 esophageal cancer 9.5 IGF2 H19

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



Diseases related to Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Symptoms & Phenotypes for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Human phenotypes related to Silver-Russell Syndrome Due to an Imprinting Defect of 11p15:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
4 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
5 short chin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000331
6 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
7 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
8 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
9 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
10 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
11 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
12 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
13 lower limb asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0100559
14 relative macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0004482
15 upper limb asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0100560
16 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
17 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
18 nevus flammeus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001052
19 neonatal hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001998
20 diastasis recti 58 31 occasional (7.5%) Occasional (29-5%) HP:0001540
21 abnormal external genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000811
22 polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010442
23 seizure 31 occasional (7.5%) HP:0001250
24 hyperhidrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000975
25 delayed closure of the anterior fontanelle 58 31 very rare (1%) Very rare (<4-1%) HP:0001476
26 seizures 58 Occasional (29-5%)
27 hypoglycemia 58 Occasional (29-5%)
28 decreased body weight 58 Frequent (79-30%)
29 asymmetric growth 58 Very frequent (99-80%)

Drugs & Therapeutics for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Search Clinical Trials , NIH Clinical Center for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Genetic Tests for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Genetic tests related to Silver-Russell Syndrome Due to an Imprinting Defect of 11p15:

# Genetic test Affiliating Genes
1 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 29

Anatomical Context for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

MalaCards organs/tissues related to Silver-Russell Syndrome Due to an Imprinting Defect of 11p15:

40
Eye

Publications for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Variations for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Expression for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Search GEO for disease gene expression data for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15.

Pathways for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

GO Terms for Silver-Russell Syndrome Due to an Imprinting Defect of 11p15

Biological processes related to Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 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 an Imprinting Defect of 11p15

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