MCID: 16Q001
MIFTS: 26

16q24.3 Microdeletion Syndrome

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 16q24.3 Microdeletion Syndrome

Summaries for 16q24.3 Microdeletion Syndrome

NIH Rare Diseases : 49 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. Last updated: 2/8/2016

MalaCards based summary : 16q24.3 Microdeletion Syndrome, also known as monosomy 16q24.3, is related to autism and kbg syndrome, and has symptoms including cryptorchidism, wide mouth and high palate. An important gene associated with 16q24.3 Microdeletion Syndrome is ANKRD11 (Ankyrin Repeat Domain 11). Affiliated tissues include testes and skin.

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 10.0
2 kbg syndrome 8.9 ANKRD11 CDH15 ZNF778

Symptoms & Phenotypes for 16q24.3 Microdeletion Syndrome

Human phenotypes related to 16q24.3 Microdeletion Syndrome:

55 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
2 wide mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000154
3 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
4 long face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000276
5 pointed chin 55 31 frequent (33%) Frequent (79-30%) HP:0000307
6 smooth philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000319
7 triangular face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000325
8 long philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000343
9 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
10 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
11 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
12 preauricular skin tag 55 31 occasional (7.5%) Occasional (29-5%) HP:0000384
13 chronic otitis media 55 31 occasional (7.5%) Occasional (29-5%) HP:0000389
14 protruding ear 55 31 hallmark (90%) Very frequent (99-80%) HP:0000411
15 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
16 astigmatism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000483
17 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
18 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
19 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
20 upslanted palpebral fissure 55 31 occasional (7.5%) Occasional (29-5%) HP:0000582
21 optic nerve hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000609
22 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
23 autism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000717
24 delayed speech and language development 55 31 occasional (7.5%) Occasional (29-5%) HP:0000750
25 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
26 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
27 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
28 dilated cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001644
29 mitral regurgitation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001653
30 thrombocytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001873
31 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
32 dysphagia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002015
33 hypoplasia of the corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0002079
34 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
35 intellectual disability, moderate 55 31 frequent (33%) Frequent (79-30%) HP:0002342
36 highly arched eyebrow 55 31 occasional (7.5%) Occasional (29-5%) HP:0002553
37 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
38 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
39 biparietal narrowing 55 31 occasional (7.5%) Occasional (29-5%) HP:0004422
40 increased mean corpuscular volume 55 31 occasional (7.5%) Occasional (29-5%) HP:0005518
41 single median maxillary incisor 55 31 occasional (7.5%) Occasional (29-5%) HP:0006315
42 periventricular gray matter heterotopia 55 31 frequent (33%) Frequent (79-30%) HP:0007165
43 proximal placement of thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0009623
44 abnormal hair pattern 55 31 occasional (7.5%) Occasional (29-5%) HP:0010720
45 feeding difficulties 55 31 occasional (7.5%) Occasional (29-5%) HP:0011968
46 thick vermilion border 55 31 occasional (7.5%) Occasional (29-5%) HP:0012471
47 colpocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0030048

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:

38
Testes, Skin

Publications for 16q24.3 Microdeletion Syndrome

Articles related to 16q24.3 Microdeletion Syndrome:

# Title Authors Year
1
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. ( 28422132 )
2017
2
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. ( 23494856 )
2013
3
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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