MCID: SPR123
MIFTS: 14

Supernumerary Der(22)t(8

Aliases & Classifications for Supernumerary Der(22)t(8

MalaCards integrated aliases for Supernumerary Der(22)t(8:

Name: Supernumerary Der(22)t(8 57
Supernumerary Der(22)t(8-22) Syndrome 57
Supernumerary Der T(8;22) Syndrome 13
22) Syndrome 57

External Ids:

OMIM 57 613700

Summaries for Supernumerary Der(22)t(8

OMIM : 57 Carriers of the balanced constitutional translocation t(8;22)(q24.13;q11.2) are phenotypically normal but are at risk of having progeny with supernumerary der(22)t(8;22) syndrome as a result of malsegregation of the der(22). Although the supernumerary der(22)t(8;22) phenotype is variable between individuals, it tends to include ear and extremity abnormalities in addition to mild mental retardation (summary by Sheridan et al., 2010). (613700)

MalaCards based summary : Supernumerary Der(22)t(8, also known as supernumerary der(22)t(8-22) syndrome, is related to emanuel syndrome and ring chromosome 22. An important gene associated with Supernumerary Der(22)t(8 is DER22T8-22 (Supernumerary Der(22)T(8-22) Syndrome).

Related Diseases for Supernumerary Der(22)t(8

Diseases related to Supernumerary Der(22)t(8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 emanuel syndrome 11.9
2 ring chromosome 22 11.0
3 trisomy 22 9.7
4 digeorge syndrome 9.4
5 heparin cofactor ii deficiency 9.4
6 pseudohypoparathyroidism 9.4
7 type i 9.4
8 aneurysm 9.4

Graphical network of the top 20 diseases related to Supernumerary Der(22)t(8:



Diseases related to Supernumerary Der(22)t(8

Symptoms & Phenotypes for Supernumerary Der(22)t(8

Clinical features from OMIM:

613700

Drugs & Therapeutics for Supernumerary Der(22)t(8

Search Clinical Trials , NIH Clinical Center for Supernumerary Der(22)t(8

Genetic Tests for Supernumerary Der(22)t(8

Anatomical Context for Supernumerary Der(22)t(8

Publications for Supernumerary Der(22)t(8

Articles related to Supernumerary Der(22)t(8:

(show all 11)
# Title Authors Year
1
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. ( 19606488 )
2009
2
Partial trisomy (11;22) syndrome with manifestations of Goldenhar sequence due to maternal balanced t(11;22). ( 17100195 )
2006
3
Case of CATCH 22 syndrome complicated with pseudohypoparathyroidism and unilateral renal aplasia. ( 11982886 )
2002
4
Pulmonary arterial aneurysm with CATCH 22 syndrome--a case report. ( 11716333 )
2001
5
Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome). ( 11720799 )
2001
6
Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. ( 10053009 )
1999
7
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. ( 9063746 )
1997
8
Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. ( 8803768 )
1996
9
Trisomy 22 syndrome in a 26-year-old female--A follow-up examination. ( 7216826 )
1981
10
Ocular movement disturbances in a family with trisomy 22 syndrome. ( 4730727 )
1973
11
The question of trisomy 22 syndrome. ( 5091263 )
1971

Variations for Supernumerary Der(22)t(8

Expression for Supernumerary Der(22)t(8

Search GEO for disease gene expression data for Supernumerary Der(22)t(8.

Pathways for Supernumerary Der(22)t(8

GO Terms for Supernumerary Der(22)t(8

Sources for Supernumerary Der(22)t(8

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....