MCID: 16Q001
MIFTS: 20

16q24.3 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 16q24.3 Microdeletion Syndrome

Aliases & Descriptions for 16q24.3 Microdeletion Syndrome:

Name: 16q24.3 Microdeletion Syndrome 50 56
Monosomy 16q24.3 50 56
Del(16)(q24.3) 50 56
Chromosome 16q24.3 Microdeletion Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
16q24.3 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA261250
ICD10 via Orphanet 34 Q93.5

Summaries for 16q24.3 Microdeletion Syndrome

NIH Rare Diseases : 50 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 hyperammonemia due to carbonic anhydrase va deficiency and 3 alpha methylcrotonyl-coa carboxylase 2 deficiency, and has symptoms including seizures, frontal bossing 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:

id Related Disease Score Top Affiliating Genes
1 hyperammonemia due to carbonic anhydrase va deficiency 9.6 ANKRD11 CDH15 ZNF778
2 3 alpha methylcrotonyl-coa carboxylase 2 deficiency 9.5 ANKRD11 CDH15 ZNF778

Symptoms & Phenotypes for 16q24.3 Microdeletion Syndrome

Human phenotypes related to 16q24.3 Microdeletion Syndrome:

56 32 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 frontal bossing 56 32 Frequent (79-30%) HP:0002007
3 high palate 56 32 Frequent (79-30%) HP:0000218
4 nystagmus 56 32 Occasional (29-5%) HP:0000639
5 dysphagia 56 32 Occasional (29-5%) HP:0002015
6 scoliosis 56 32 Occasional (29-5%) HP:0002650
7 kyphosis 56 32 Occasional (29-5%) HP:0002808
8 hearing impairment 56 32 Occasional (29-5%) HP:0000365
9 chronic otitis media 56 32 Occasional (29-5%) HP:0000389
10 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
11 delayed speech and language development 56 32 Occasional (29-5%) HP:0000750
12 thick vermilion border 56 32 Occasional (29-5%) HP:0012471
13 smooth philtrum 56 32 Frequent (79-30%) HP:0000319
14 anteverted nares 56 32 Occasional (29-5%) HP:0000463
15 visual impairment 56 32 Occasional (29-5%) HP:0000505
16 long philtrum 56 32 Frequent (79-30%) HP:0000343
17 micrognathia 56 32 Frequent (79-30%) HP:0000347
18 feeding difficulties 56 32 Occasional (29-5%) HP:0011968
19 strabismus 56 32 Occasional (29-5%) HP:0000486
20 biparietal narrowing 56 32 Occasional (29-5%) HP:0004422
21 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
22 autism 56 32 Very frequent (99-80%) HP:0000717
23 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
24 protruding ear 56 32 Very frequent (99-80%) HP:0000411
25 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
26 myopia 56 32 Occasional (29-5%) HP:0000545
27 optic nerve hypoplasia 56 32 Frequent (79-30%) HP:0000609
28 intellectual disability, moderate 56 32 Frequent (79-30%) HP:0002342
29 wide mouth 56 32 Frequent (79-30%) HP:0000154
30 mitral regurgitation 56 32 Occasional (29-5%) HP:0001653
31 upslanted palpebral fissure 56 32 Occasional (29-5%) HP:0000582
32 long face 56 32 Occasional (29-5%) HP:0000276
33 ventricular septal defect 56 32 Occasional (29-5%) HP:0001629
34 abnormal hair pattern 56 32 Occasional (29-5%) HP:0010720
35 pointed chin 56 32 Frequent (79-30%) HP:0000307
36 high forehead 56 32 Very frequent (99-80%) HP:0000348
37 highly arched eyebrow 56 32 Occasional (29-5%) HP:0002553
38 triangular face 56 32 Occasional (29-5%) HP:0000325
39 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
40 proximal placement of thumb 56 32 Occasional (29-5%) HP:0009623
41 astigmatism 56 32 Occasional (29-5%) HP:0000483
42 dilated cardiomyopathy 56 32 Occasional (29-5%) HP:0001644
43 single median maxillary incisor 56 32 Occasional (29-5%) HP:0006315
44 hypoplasia of the corpus callosum 56 32 Frequent (79-30%) HP:0002079
45 periventricular gray matter heterotopia 56 32 Frequent (79-30%) HP:0007165
46 colpocephaly 56 32 Frequent (79-30%) HP:0030048
47 erythrocyte macrocytosis 56 Occasional (29-5%)
48 increased mean corpuscular volume 32 HP:0005518

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:

39
Testes, Skin

Publications for 16q24.3 Microdeletion Syndrome

Articles related to 16q24.3 Microdeletion Syndrome:

id 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)
id 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 32 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 33 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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