MCID: CHR584
MIFTS: 17

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 58 30 74
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2mb 58 13
Distal Chromosome 7q11.23 Deletion Syndrome 58
Distal 7q11.23 Microdeletion Syndrome 60
Distal Monosomy 7q11.23 60
Distal Del(7)(q11.23) 60

Characteristics:

Orphanet epidemiological data:

60
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 : 58 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

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

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
3 specific learning disability 60 33 frequent (33%) Frequent (79-30%) HP:0001328
4 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
5 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
6 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
7 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
8 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
9 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308
10 aggressive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000718
11 bipolar affective disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007302
12 porencephalic cyst 33 occasional (7.5%) HP:0002132
13 porencephaly 60 Occasional (29-5%)

Clinical features from OMIM:

613729

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 30

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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