MCID: CHR584
MIFTS: 19

Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

MalaCards integrated aliases for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb:

Name: Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 57 29 70
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2mb 57 13
Distal Chromosome 7q11.23 Deletion Syndrome 57
Distal 7q11.23 Microdeletion Syndrome 58
Distal Monosomy 7q11.23 58
Distal Del(7)(q11.23) 58

Characteristics:

Orphanet epidemiological data:

58
distal 7q11.23 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

OMIM® : 57 Hemizygous 1.2-Mb deletion of the distal region of chromosome 7q11.23 is associated with increased risk for epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities (Ramocki et al., 2010). (613729) (Updated 20-May-2021)

MalaCards based summary : Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb, also known as chromosome 7q11.23 deletion syndrome, distal, 1.2mb, is related to williams-beuren syndrome. An important gene associated with Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb is DEL7Q11.23 (Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2Mb). Related phenotypes are intellectual disability and specific learning disability

Related Diseases for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Diseases related to Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 williams-beuren syndrome 11.3

Symptoms & Phenotypes for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Human phenotypes related to Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
3 seizure 31 frequent (33%) HP:0001250
4 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
5 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
6 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
7 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
8 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
9 bipolar affective disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007302
10 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
11 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
12 porencephalic cyst 31 occasional (7.5%) HP:0002132
13 seizures 58 Frequent (79-30%)
14 porencephaly 58 Occasional (29-5%)

Clinical features from OMIM®:

613729 (Updated 20-May-2021)

Drugs & Therapeutics for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Search Clinical Trials , NIH Clinical Center for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Genetic Tests for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Genetic tests related to Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb:

# Genetic test Affiliating Genes
1 Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb 29

Anatomical Context for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Publications for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Articles related to Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb:

# Title Authors PMID Year
1
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. 57
21109226 2010
2
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. 57
20146355 2010
3
Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2. 57
20101691 2010
4
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. 57
18565486 2008
5
Infantile spasms in a patient with williams syndrome and craniosynostosis. 57
14636357 2003

Variations for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Expression for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Search GEO for disease gene expression data for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb.

Pathways for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

GO Terms for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

Sources for Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb

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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