DGS2
MCID: DGR006
MIFTS: 24

Digeorge Syndrome/velocardiofacial Syndrome Complex 2 (DGS2)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

MalaCards integrated aliases for Digeorge Syndrome/velocardiofacial Syndrome Complex 2:

Name: Digeorge Syndrome/velocardiofacial Syndrome Complex 2 57 29
Digeorge Syndrome/velocardiofacial Syndrome Complex-2 57 13
Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 70
Telomeric Deletion 10p 58
Distal Monosomy 10p 58
Distal 10p Deletion 58
Monosomy 10pter 58
Dgs2 57

Characteristics:

Orphanet epidemiological data:

58
distal monosomy 10p
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

MalaCards based summary : Digeorge Syndrome/velocardiofacial Syndrome Complex 2, also known as digeorge syndrome/velocardiofacial syndrome complex-2, is related to digeorge syndrome and velocardiofacial syndrome. An important gene associated with Digeorge Syndrome/velocardiofacial Syndrome Complex 2 is DGCR2 (DiGeorge Syndrome Critical Region Gene 2). Affiliated tissues include heart, and related phenotypes are intellectual disability and wide nasal bridge

More information from OMIM: 601362

Related Diseases for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Diseases related to Digeorge Syndrome/velocardiofacial Syndrome Complex 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 30.9 DGS2 DGCR2
2 velocardiofacial syndrome 30.6 DGS2 DGCR2
3 chromosome 2q35 duplication syndrome 9.9
4 branchiootic syndrome 1 9.9
5 ptosis 9.9
6 sensorineural hearing loss 9.9
7 hypoparathyroidism 9.9
8 ventricular septal defect 9.9
9 heart septal defect 9.9
10 atrial heart septal defect 9.9
11 hypertonia 9.9
12 renal dysplasia 9.9

Graphical network of the top 20 diseases related to Digeorge Syndrome/velocardiofacial Syndrome Complex 2:



Diseases related to Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Symptoms & Phenotypes for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Human phenotypes related to Digeorge Syndrome/velocardiofacial Syndrome Complex 2:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
4 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
5 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
6 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
7 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
10 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
13 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
14 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
15 hypoplastic toenails 58 31 frequent (33%) Frequent (79-30%) HP:0001800
16 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
17 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
18 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
19 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
20 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
21 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
22 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
23 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
24 abnormal fingernail morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001231
25 polycystic ovaries 58 31 occasional (7.5%) Occasional (29-5%) HP:0000147
26 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
27 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
28 abnormality of the elbow 58 31 occasional (7.5%) Occasional (29-5%) HP:0009811
29 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
30 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
31 malformation of the heart and great vessels 58 Frequent (79-30%)
32 hearing abnormality 58 Frequent (79-30%)

Clinical features from OMIM®:

601362 (Updated 05-Apr-2021)

Drugs & Therapeutics for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Search Clinical Trials , NIH Clinical Center for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Genetic Tests for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Genetic tests related to Digeorge Syndrome/velocardiofacial Syndrome Complex 2:

# Genetic test Affiliating Genes
1 Digeorge Syndrome/velocardiofacial Syndrome Complex 2 29

Anatomical Context for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

MalaCards organs/tissues related to Digeorge Syndrome/velocardiofacial Syndrome Complex 2:

40
Heart

Publications for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Articles related to Digeorge Syndrome/velocardiofacial Syndrome Complex 2:

# Title Authors PMID Year
1
Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene. 57
12504851 2002
2
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. 57
10633131 2000
3
No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585. 57
10232757 1999
4
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). 57
9781025 1998
5
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). 57
9415468 1997
6
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. 57
8696341 1996
7
Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome. 61
17163546 2007

Variations for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Expression for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Search GEO for disease gene expression data for Digeorge Syndrome/velocardiofacial Syndrome Complex 2.

Pathways for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

GO Terms for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Sources for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

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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