MCID: DGR006
MIFTS: 23

Digeorge Syndrome/velocardiofacial Syndrome Complex 2

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
Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 73
Telomeric Deletion 10p 59
Distal Monosomy 10p 59
Distal 10p Deletion 59
Monosomy 10pter 59
Dgs2 57

Characteristics:

Orphanet epidemiological data:

59
distal monosomy 10p
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:



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 velocardiofacial syndrome and digeorge syndrome. An important gene associated with Digeorge Syndrome/velocardiofacial Syndrome Complex 2 is DGCR2 (DiGeorge Syndrome Critical Region Gene 2). Affiliated tissues include ovary and heart, and related phenotypes are cryptorchidism and polycystic ovaries

Description 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:

# Related Disease Score Top Affiliating Genes
1 velocardiofacial syndrome 29.9 DGCR2 DGS2
2 digeorge syndrome 10.0

Symptoms & Phenotypes for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

Clinical features from OMIM:

601362

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

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 polycystic ovaries 59 32 occasional (7.5%) Occasional (29-5%) HP:0000147
3 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
5 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
6 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
7 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
8 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
9 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
10 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
11 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
12 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
13 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
16 abnormality of the fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001231
17 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
18 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
19 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
20 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%) HP:0001800
21 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
22 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
23 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
24 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004397
25 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
26 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
27 abnormality of the elbow 59 32 occasional (7.5%) Occasional (29-5%) HP:0009811
28 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
29 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
30 hearing abnormality 59 Frequent (79-30%)
31 malformation of the heart and great vessels 59 Frequent (79-30%)
32 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680

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:

41
Ovary, Heart

Publications for Digeorge Syndrome/velocardiofacial Syndrome Complex 2

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....