MCID: CHR621
MIFTS: 19

Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

MalaCards integrated aliases for Chromosome 16p11.2 Deletion Syndrome, 593-Kb:

Name: Chromosome 16p11.2 Deletion Syndrome, 593-Kb 57
Autism Susceptibility 14a 57 13
Chromosome 16p11.2 Deletion Syndrome, 593kb 57
Proximal 16p11.2 Microdeletion Syndrome 59
Proximal Monosomy 16p11.2 59
Proximal Del(16)(p11.2) 59

Characteristics:

Orphanet epidemiological data:

59
proximal 16p11.2 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: adult;

HPO:

32
chromosome 16p11.2 deletion syndrome, 593-kb:
Inheritance contiguous gene syndrome


Classifications:



Summaries for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

MalaCards based summary : Chromosome 16p11.2 Deletion Syndrome, 593-Kb, is also known as autism susceptibility 14a. An important gene associated with Chromosome 16p11.2 Deletion Syndrome, 593-Kb is DEL16P11.2 (Autism, Susceptibility To, 14). Related phenotypes are cleft palate and macrocephaly

Description from OMIM: 611913

Related Diseases for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Symptoms & Phenotypes for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Clinical features from OMIM:

611913

Human phenotypes related to Chromosome 16p11.2 Deletion Syndrome, 593-Kb:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
2 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
3 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
4 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
5 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
6 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
7 anophthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000528
8 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
9 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
10 optic nerve coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000588
11 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
12 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
13 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
14 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
15 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
16 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
17 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
18 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
19 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
20 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
21 aortic regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001659
22 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
23 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
24 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
25 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
26 language impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002463
27 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
28 hemivertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002937
29 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
30 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
31 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
32 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018

Drugs & Therapeutics for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Search Clinical Trials , NIH Clinical Center for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Genetic Tests for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Anatomical Context for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Publications for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Variations for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

ClinVar genetic disease variations for Chromosome 16p11.2 Deletion Syndrome, 593-Kb:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ~550-kb deletion at 16p11.2 deletion Pathogenic

Expression for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Search GEO for disease gene expression data for Chromosome 16p11.2 Deletion Syndrome, 593-Kb.

Pathways for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

GO Terms for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

Sources for Chromosome 16p11.2 Deletion Syndrome, 593-Kb

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34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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