MCID: 16Q001
MIFTS: 28

16q24.3 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 16q24.3 Microdeletion Syndrome

MalaCards integrated aliases for 16q24.3 Microdeletion Syndrome:

Name: 16q24.3 Microdeletion Syndrome 52 58 6
Monosomy 16q24.3 52 58
Del(16)(q24.3) 52 58
Chromosome 16q24.3 Microdeletion Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
16q24.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for 16q24.3 Microdeletion Syndrome

NIH Rare Diseases : 52 16q24.3 microdeletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion ) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay , characteristic facial features, seizures and autism spectrum disorder . Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited . In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material . The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a microdeletion. Treatment is based on the signs and symptoms present in each person. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders .

MalaCards based summary : 16q24.3 Microdeletion Syndrome, also known as monosomy 16q24.3, is related to kbg syndrome and autism spectrum disorder. An important gene associated with 16q24.3 Microdeletion Syndrome is ANKRD11 (Ankyrin Repeat Domain 11). Affiliated tissues include testes and skin, and related phenotypes are protruding ear and autism

Related Diseases for 16q24.3 Microdeletion Syndrome

Diseases related to 16q24.3 Microdeletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kbg syndrome 28.9 ZNF778 CDH15 ANKRD11
2 autism spectrum disorder 10.4
3 alacrima, achalasia, and mental retardation syndrome 10.3
4 autism 10.1
5 astigmatism 10.1
6 brachydactyly 10.1
7 thrombocytopenia 10.1
8 autosomal dominant non-syndromic intellectual disability 9.2 CDH15 ANKRD11

Graphical network of the top 20 diseases related to 16q24.3 Microdeletion Syndrome:



Diseases related to 16q24.3 Microdeletion Syndrome

Symptoms & Phenotypes for 16q24.3 Microdeletion Syndrome

Human phenotypes related to 16q24.3 Microdeletion Syndrome:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
2 autism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000717
3 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
4 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
5 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
6 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
7 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
8 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
9 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
10 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
11 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
12 optic nerve hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000609
13 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
14 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
15 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
16 colpocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0030048
17 periventricular heterotopia 31 frequent (33%) HP:0007165
18 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
19 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
20 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
21 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
22 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
23 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
24 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
25 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
26 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
27 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
28 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
29 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
30 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
31 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
32 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
33 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
34 biparietal narrowing 58 31 occasional (7.5%) Occasional (29-5%) HP:0004422
35 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
36 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
37 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
38 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
39 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
40 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
41 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
42 increased mean corpuscular volume 58 31 occasional (7.5%) Occasional (29-5%) HP:0005518
43 triangular face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000325
44 proximal placement of thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009623
45 abnormal hair pattern 58 31 occasional (7.5%) Occasional (29-5%) HP:0010720
46 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
47 single median maxillary incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006315
48 periventricular gray matter heterotopia 58 Frequent (79-30%)

Drugs & Therapeutics for 16q24.3 Microdeletion Syndrome

Search Clinical Trials , NIH Clinical Center for 16q24.3 Microdeletion Syndrome

Genetic Tests for 16q24.3 Microdeletion Syndrome

Anatomical Context for 16q24.3 Microdeletion Syndrome

MalaCards organs/tissues related to 16q24.3 Microdeletion Syndrome:

40
Testes, Skin

Publications for 16q24.3 Microdeletion Syndrome

Articles related to 16q24.3 Microdeletion Syndrome:

# Title Authors PMID Year
1
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome. 61
23885231 2013
2
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. 61
23463723 2013
3
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 61
23494856 2013
4
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. 61
19920853 2010

Variations for 16q24.3 Microdeletion Syndrome

ClinVar genetic disease variations for 16q24.3 Microdeletion Syndrome:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 22 genes: ANKRD11 deletion Pathogenic 267474 16:88635000-89628950
2 subset of 31 genes: ANKRD11 deletion Pathogenic 267475 16:87340135-89335428
3 subset of 21 genes: ANKRD11 deletion Pathogenic 267476 16:88230961-89363602
4 subset of 16 genes: ANKRD11 deletion Pathogenic 267477 16:88755312-89584412
5 subset of 21 genes: ANKRD11 deletion Pathogenic 267478 16:88556191-89557911
6 covers 13 genes, none of which curated to show dosage sensitivity deletion Pathogenic 267479 16:88165980-88914268
7 subset of 21 genes: ANKRD11 deletion Pathogenic 267480 16:88230760-89363742
8 subset of 21 genes: ANKRD11 deletion Pathogenic 267481 16:88630607-89607742
9 subset of 32 genes: ANKRD11 deletion Pathogenic 267482 16:87183661-89520803
10 ANKRD11 , CPNE7 , LOC101927817 , RPL13 , SPG7 deletion Pathogenic 267483 16:89475451-89652148
11 ACSF3 , ANKRD11 , CDH15 , LOC101927817 , SLC22A31 , ZNF778 deletion Pathogenic 267484 16:89161684-89505106
12 subset of 19 genes: ANKRD11 deletion Pathogenic 267485 16:88666177-89472627

Expression for 16q24.3 Microdeletion Syndrome

Search GEO for disease gene expression data for 16q24.3 Microdeletion Syndrome.

Pathways for 16q24.3 Microdeletion Syndrome

GO Terms for 16q24.3 Microdeletion Syndrome

Sources for 16q24.3 Microdeletion Syndrome

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