MCID: SLV020
MIFTS: 24

Silver-Russell Syndrome Due to a Point Mutation

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

Aliases & Classifications for Silver-Russell Syndrome Due to a Point Mutation

MalaCards integrated aliases for Silver-Russell Syndrome Due to a Point Mutation:

Name: Silver-Russell Syndrome Due to a Point Mutation 58

Characteristics:

Orphanet epidemiological data:

58
silver-russell syndrome due to a point mutation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Silver-Russell Syndrome Due to a Point Mutation

MalaCards based summary : Silver-Russell Syndrome Due to a Point Mutation is related to salivary gland adenoma, pleomorphic and chondroid lipoma. An important gene associated with Silver-Russell Syndrome Due to a Point Mutation is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways is Endochondral Ossification. Affiliated tissues include eye, placenta and smooth muscle, and related phenotypes are feeding difficulties in infancy and prominent forehead

Related Diseases for Silver-Russell Syndrome Due to a Point Mutation

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 a Point Mutation via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 salivary gland adenoma, pleomorphic 10.0 PLAG1 HMGA2
2 chondroid lipoma 10.0 PLAG1 HMGA2
3 vulvar leiomyoma 10.0 PLAG1 HMGA2
4 pleomorphic adenoma carcinoma 10.0 PLAG1 HMGA2
5 pleomorphic adenoma 9.9 PLAG1 HMGA2
6 eccrine papillary adenoma 9.9 PLAG1 HMGA2
7 vulvar benign neoplasm 9.9 PLAG1 HMGA2
8 epithelial-myoepithelial carcinoma 9.9 PLAG1 HMGA2
9 myoepithelial carcinoma 9.9 PLAG1 HMGA2
10 lipomatosis, multiple 9.9 PLAG1 HMGA2
11 well-differentiated liposarcoma 9.9 PLAG1 HMGA2
12 hemihyperplasia, isolated 9.9 IGF2 CDKN1C
13 wilms tumor predisposition 9.8 IGF2 CDKN1C
14 umbilical hernia 9.8 IGF2 CDKN1C
15 spastic paraplegia 17, autosomal dominant 9.8 IGF2 CDKN1C
16 adrenal cortical adenoma 9.8 IGF2 CDKN1C
17 gestational trophoblastic neoplasm 9.8 IGF2 CDKN1C
18 omphalocele 9.8 IGF2 CDKN1C
19 leiomyoma 9.8 IGF2 HMGA2
20 adrenal adenoma 9.8 IGF2 CDKN1C
21 transient neonatal diabetes mellitus 9.8 IGF2 CDKN1C
22 smooth muscle tumor 9.8 IGF2 HMGA2
23 gastrointestinal system benign neoplasm 9.8 PLAG1 IGF2
24 adrenal carcinoma 9.7 IGF2 CDKN1C
25 adrenal cortical carcinoma 9.7 IGF2 CDKN1C
26 atypical teratoid rhabdoid tumor 9.7 IGF2 HMGA2
27 leiomyosarcoma 9.7 IGF2 HMGA2
28 choriocarcinoma 9.7 IGF2 CDKN1C
29 sarcoma, synovial 9.6 IGF2 HMGA2
30 li-fraumeni syndrome 9.6 IGF2 CDKN1C
31 angelman syndrome 9.6 IGF2 CDKN1C
32 hepatoblastoma 9.6 PLAG1 IGF2 CDKN1C
33 beckwith-wiedemann syndrome 9.5 IGF2 CDKN1C
34 rhabdomyosarcoma 9.4 IGF2 HMGA2 CDKN1C
35 silver-russell syndrome 1 9.2 PLAG1 IGF2 HMGA2 CDKN1C

Graphical network of the top 20 diseases related to Silver-Russell Syndrome Due to a Point Mutation:



Diseases related to Silver-Russell Syndrome Due to a Point Mutation

Symptoms & Phenotypes for Silver-Russell Syndrome Due to a Point Mutation

Human phenotypes related to Silver-Russell Syndrome Due to a Point Mutation:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
2 prominent forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0011220
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
7 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
8 relative macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0004482
9 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
10 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
11 abnormality of the cardiovascular system 58 31 frequent (33%) Frequent (79-30%) HP:0001626
12 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
13 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
14 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
15 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
16 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
17 short 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0009237
18 syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001159
19 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
20 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
21 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
22 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
23 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
24 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
25 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
26 bifid scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000048
27 asthma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002099
28 hypoplastic fingernail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001804
29 asymmetric growth 58 31 occasional (7.5%) Occasional (29-5%) HP:0100555
30 ectrodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0100257
31 dysmenorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0100607
32 cafe-au-lait spot 58 31 occasional (7.5%) Occasional (29-5%) HP:0000957
33 polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0010442
34 small placenta 58 31 occasional (7.5%) Occasional (29-5%) HP:0006266
35 microphallus 58 31 occasional (7.5%) Occasional (29-5%) HP:0030260
36 abnormality of the scrotum 58 Frequent (79-30%)

Drugs & Therapeutics for Silver-Russell Syndrome Due to a Point Mutation

Search Clinical Trials , NIH Clinical Center for Silver-Russell Syndrome Due to a Point Mutation

Genetic Tests for Silver-Russell Syndrome Due to a Point Mutation

Anatomical Context for Silver-Russell Syndrome Due to a Point Mutation

MalaCards organs/tissues related to Silver-Russell Syndrome Due to a Point Mutation:

40
Eye, Placenta, Smooth Muscle, Salivary Gland

Publications for Silver-Russell Syndrome Due to a Point Mutation

Variations for Silver-Russell Syndrome Due to a Point Mutation

Expression for Silver-Russell Syndrome Due to a Point Mutation

Search GEO for disease gene expression data for Silver-Russell Syndrome Due to a Point Mutation.

Pathways for Silver-Russell Syndrome Due to a Point Mutation

Pathways related to Silver-Russell Syndrome Due to a Point Mutation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.44 IGF2 CDKN1C

GO Terms for Silver-Russell Syndrome Due to a Point Mutation

Biological processes related to Silver-Russell Syndrome Due to a Point Mutation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.13 PLAG1 IGF2 HMGA2
2 positive regulation of protein serine/threonine kinase activity GO:0071902 8.62 IGF2 HMGA2

Sources for Silver-Russell Syndrome Due to a Point Mutation

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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