MCID: SLV019
MIFTS: 19

Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7

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

Aliases & Classifications for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Summaries for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

MalaCards based summary : Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7, also known as upd(7)mat, is related to silver-russell syndrome 1 and diencephalic syndrome. Affiliated tissues include eye, heart and kidney, and related phenotypes are delayed skeletal maturation and postnatal growth retardation

Related Diseases for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

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 Maternal Uniparental Disomy of Chromosome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 1 10.4
2 diencephalic syndrome 10.4
3 chromosomal triplication 10.4
4 maternal uniparental disomy 10.4
5 47,xyy 10.3
6 ring chromosome 7 10.3
7 uniparental disomy of chromosome 7 10.3
8 ring chromosome 10.3
9 nondisjunction 10.1

Graphical network of the top 20 diseases related to Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7:



Diseases related to Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7

Symptoms & Phenotypes for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Human phenotypes related to Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
3 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
7 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
8 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
9 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
10 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
11 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
12 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
13 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
14 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
15 relative macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0004482
16 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
17 abnormality of the outer ear 58 31 frequent (33%) Frequent (79-30%) HP:0000356
18 syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001159
19 fasting hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0003162
20 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
21 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
22 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
23 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
24 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
25 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
26 decreased muscle mass 58 31 occasional (7.5%) Occasional (29-5%) HP:0003199
27 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
28 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
29 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
30 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
31 dental crowding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000678
32 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
33 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
34 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
35 high pitched voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001620
36 lower limb asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0100559
37 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627
38 insulin resistance 58 31 occasional (7.5%) Occasional (29-5%) HP:0000855
39 shoulder dimple 58 31 occasional (7.5%) Occasional (29-5%) HP:0010782
40 premature adrenarche 58 31 occasional (7.5%) Occasional (29-5%) HP:0012412
41 obstructive sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002870
42 oral aversion 58 31 occasional (7.5%) Occasional (29-5%) HP:0012523
43 severe intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008846
44 pierre-robin sequence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000201
45 poor appetite 58 31 occasional (7.5%) Occasional (29-5%) HP:0004396
46 aspiration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002835
47 esophagitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100633
48 delayed closure of the anterior fontanelle 58 31 occasional (7.5%) Occasional (29-5%) HP:0001476
49 short chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000331
50 overbite 58 31 occasional (7.5%) Occasional (29-5%) HP:0011094

Drugs & Therapeutics for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Search Clinical Trials , NIH Clinical Center for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7

Genetic Tests for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Anatomical Context for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

MalaCards organs/tissues related to Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7:

40
Eye, Heart, Kidney

Publications for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Variations for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Expression for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Search GEO for disease gene expression data for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7.

Pathways for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

GO Terms for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

Sources for Silver-Russell Syndrome Due to Maternal Uniparental Disomy of...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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45 MESH via Orphanet
46 MGI
49 NCI
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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