MCID: 16Q001
MIFTS: 25

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 53 59 6
Monosomy 16q24.3 53 59
Del(16)(q24.3) 53 59
Chromosome 16q24.3 Microdeletion Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
16q24.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q93.5
Orphanet 59 ORPHA261250

Summaries for 16q24.3 Microdeletion Syndrome

NIH Rare Diseases : 53 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 29.2 ZNF778 ANKRD11
2 autism spectrum disorder 10.4
3 alacrima, achalasia, and mental retardation syndrome 10.3
4 thrombocytopenia 10.3
5 autism 10.1
6 astigmatism 10.1
7 brachydactyly 10.1

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:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
2 autism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000717
3 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
4 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
5 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
6 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
7 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
8 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
9 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
10 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
11 optic nerve hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000609
12 intellectual disability, moderate 59 32 frequent (33%) Frequent (79-30%) HP:0002342
13 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
14 pointed chin 59 32 frequent (33%) Frequent (79-30%) HP:0000307
15 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
16 colpocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0030048
17 periventricular heterotopia 32 frequent (33%) HP:0007165
18 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
19 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
20 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
21 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
22 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
23 chronic otitis media 59 32 occasional (7.5%) Occasional (29-5%) HP:0000389
24 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
25 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
26 thick vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0012471
27 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
28 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
29 highly arched eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0002553
30 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
31 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
32 biparietal narrowing 59 32 occasional (7.5%) Occasional (29-5%) HP:0004422
33 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
34 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
35 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
36 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
37 mitral regurgitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001653
38 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
39 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
40 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
41 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
42 increased mean corpuscular volume 59 32 occasional (7.5%) Occasional (29-5%) HP:0005518
43 abnormal hair pattern 59 32 occasional (7.5%) Occasional (29-5%) HP:0010720
44 triangular face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000325
45 proximal placement of thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009623
46 astigmatism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000483
47 single median maxillary incisor 59 32 occasional (7.5%) Occasional (29-5%) HP:0006315
48 periventricular gray matter heterotopia 59 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:

41
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. 38
23885231 2013
2
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. 38
23463723 2013
3
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. 38
23494856 2013
4
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. 38
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 GRCh37 Pos GRCh38 Pos
1 subset of 22 genes:ANKRD11 deletion Pathogenic 16:88635000-89628950 :0-0
2 subset of 31 genes:ANKRD11 deletion Pathogenic 16:87340135-89335428 :0-0
3 subset of 21 genes:ANKRD11 deletion Pathogenic 16:88230961-89363602 :0-0
4 subset of 16 genes:ANKRD11 deletion Pathogenic 16:88755312-89584412 :0-0
5 subset of 21 genes:ANKRD11 deletion Pathogenic 16:88556191-89557911 :0-0
6 covers 13 genes, none of which curated to show dosage sensitivity deletion Pathogenic 16:88165980-88914268 :0-0
7 subset of 21 genes:ANKRD11 deletion Pathogenic 16:88230760-89363742 :0-0
8 subset of 21 genes:ANKRD11 deletion Pathogenic 16:88630607-89607742 :0-0
9 subset of 32 genes:ANKRD11 deletion Pathogenic 16:87183661-89520803 :0-0
10 ANKRD11 ; CPNE7 ; LOC101927817 ; RPL13 ; SPG7 deletion Pathogenic 16:89475451-89652148 :0-0
11 ACSF3 ; ANKRD11 ; CDH15 ; LOC101927817 ; SLC22A31 ; ZNF778 deletion Pathogenic 16:89161684-89505106 :0-0
12 subset of 19 genes:ANKRD11 deletion Pathogenic 16:88666177-89472627 :0-0

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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