MCID: CHR584
MIFTS: 18

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 73
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2mb 57 13
Distal Chromosome 7q11.23 Deletion Syndrome 57
Distal 7q11.23 Microdeletion Syndrome 59
Distal Monosomy 7q11.23 59
Distal Del(7)(q11.23) 59

Characteristics:

Orphanet epidemiological data:

59
distal 7q11.23 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



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)

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 seizures

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 11.4

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

Clinical features from OMIM:

613729

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

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
4 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
5 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
6 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
7 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
8 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
9 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
10 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
11 bipolar affective disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007302
12 porencephaly 59 Occasional (29-5%)
13 porencephalic cyst 32 occasional (7.5%) HP:0002132

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

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 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....