MCID: 16Q001
MIFTS: 24

16q24.3 Microdeletion Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for 16q24.3 Microdeletion Syndrome

Summaries for 16q24.3 Microdeletion Syndrome

NIH Rare Diseases : 54 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 autism and kbg syndrome. 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 autism and protruding ear

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 autism 10.1
2 kbg syndrome 9.4 ANKRD11 ZNF778

Symptoms & Phenotypes for 16q24.3 Microdeletion Syndrome

Human phenotypes related to 16q24.3 Microdeletion Syndrome:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000717
2 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
3 high forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000348
4 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
5 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
6 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
7 smooth philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000319
8 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
9 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
10 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
11 optic nerve hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000609
12 intellectual disability, moderate 60 33 frequent (33%) Frequent (79-30%) HP:0002342
13 wide mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000154
14 pointed chin 60 33 frequent (33%) Frequent (79-30%) HP:0000307
15 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
16 colpocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0030048
17 periventricular heterotopia 33 frequent (33%) HP:0007165
18 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
19 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
20 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
21 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
22 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
23 chronic otitis media 60 33 occasional (7.5%) Occasional (29-5%) HP:0000389
24 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
25 delayed speech and language development 60 33 occasional (7.5%) Occasional (29-5%) HP:0000750
26 thick vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0012471
27 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
28 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
29 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
30 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
31 biparietal narrowing 60 33 occasional (7.5%) Occasional (29-5%) HP:0004422
32 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
33 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
34 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
35 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001644
36 mitral regurgitation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001653
37 upslanted palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0000582
38 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
39 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
40 increased mean corpuscular volume 60 33 occasional (7.5%) Occasional (29-5%) HP:0005518
41 abnormal hair pattern 60 33 occasional (7.5%) Occasional (29-5%) HP:0010720
42 highly arched eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0002553
43 triangular face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000325
44 preauricular skin tag 60 33 occasional (7.5%) Occasional (29-5%) HP:0000384
45 proximal placement of thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0009623
46 astigmatism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000483
47 single median maxillary incisor 60 33 occasional (7.5%) Occasional (29-5%) HP:0006315
48 periventricular gray matter heterotopia 60 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:

42
Testes, Skin

Publications for 16q24.3 Microdeletion Syndrome

Articles related to 16q24.3 Microdeletion Syndrome:

# Title Authors Year
1
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. ( 23494856 )
2013
2
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. ( 19920853 )
2010

Variations for 16q24.3 Microdeletion Syndrome

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 22 genes:ANKRD11 NC_000016.9 deletion Pathogenic GRCh37 Chromosome 16, 88635000: 89628950
2 subset of 31 genes:ANKRD11 NC_000016.9: g.(?_87340135)_(89335428_?)del deletion Pathogenic GRCh37 Chromosome 16, 87340135: 89335428
3 subset of 21 genes:ANKRD11 NC_000016.9: g.(?_88230961)_(89363602_?)del deletion Pathogenic GRCh37 Chromosome 16, 88230961: 89363602
4 subset of 16 genes:ANKRD11 NC_000016.9: g.(?_88755312)_(89584412_?)del deletion Pathogenic GRCh37 Chromosome 16, 88755312: 89584412
5 subset of 21 genes:ANKRD11 NC_000016.9: g.(?_88556191)_(89557911_?)del deletion Pathogenic GRCh37 Chromosome 16, 88556191: 89557911
6 covers 13 genes, none of which curated to show dosage sensitivity NC_000016.9: g.(?_88165980)_(88914268_?)del deletion Pathogenic GRCh37 Chromosome 16, 88165980: 88914268
7 subset of 21 genes:ANKRD11 NC_000016.9: g.(?_88230760)_(89363742_?)del deletion Pathogenic GRCh37 Chromosome 16, 88230760: 89363742
8 subset of 21 genes:ANKRD11 NC_000016.9: g.(?_88630607)_(89607742_?)del deletion Pathogenic GRCh37 Chromosome 16, 88630607: 89607742
9 subset of 32 genes:ANKRD11 NC_000016.9: g.(?_87183661)_(89520803_?)del deletion Pathogenic GRCh37 Chromosome 16, 87183661: 89520803
10 ANKRD11; CPNE7; LOC101927817; RPL13; SPG7 NC_000016.9: g.(?_89475451)_(89652148_?)del deletion Pathogenic GRCh37 Chromosome 16, 89475451: 89652148
11 ACSF3; ANKRD11; CDH15; LOC101927817; SLC22A31; ZNF778 NC_000016.9: g.(?_89161684)_(89505106_?)del deletion Pathogenic GRCh37 Chromosome 16, 89161684: 89505106
12 subset of 19 genes:ANKRD11 NC_000016.9: g.(?_88666177)_(89472627_?)del deletion Pathogenic GRCh37 Chromosome 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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