MCID: 16Q001
MIFTS: 20

16q24.3 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 16q24.3 Microdeletion Syndrome

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet
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Aliases & Descriptions for 16q24.3 Microdeletion Syndrome:

Name: 16q24.3 Microdeletion Syndrome 48 54
Monosomy 16q24.3 48 54
 
Del(16)(q24.3) 48 54
Chromosome 16q24.3 Microdeletion Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
16q24.3 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA261250
ICD10 via Orphanet31 Q93.5

Summaries for 16q24.3 Microdeletion Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. 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

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

idRelated DiseaseScoreTop Affiliating Genes
1hyperammonemia due to carbonic anhydrase va deficiency9.6ANKRD11, CDH15, ZNF778
23 alpha methylcrotonyl-coa carboxylase 2 deficiency9.5ANKRD11, CDH15, ZNF778

Symptoms & Phenotypes for 16q24.3 Microdeletion Syndrome

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Human phenotypes related to 16q24.3 Microdeletion Syndrome:

 54 64 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 wide mouth64 54 Frequent (79-30%) HP:0000154
3 high palate64 54 Frequent (79-30%) HP:0000218
4 long face64 54 Occasional (29-5%) HP:0000276
5 pointed chin64 54 Frequent (79-30%) HP:0000307
6 smooth philtrum64 54 Frequent (79-30%) HP:0000319
7 triangular face64 54 Occasional (29-5%) HP:0000325
8 long philtrum64 54 Frequent (79-30%) HP:0000343
9 micrognathia64 54 Frequent (79-30%) HP:0000347
10 high forehead64 54 Very frequent (99-80%) HP:0000348
11 hearing impairment64 54 Occasional (29-5%) HP:0000365
12 preauricular skin tag64 54 Occasional (29-5%) HP:0000384
13 chronic otitis media64 54 Occasional (29-5%) HP:0000389
14 protruding ear64 54 Very frequent (99-80%) HP:0000411
15 anteverted nares64 54 Occasional (29-5%) HP:0000463
16 astigmatism64 54 Occasional (29-5%) HP:0000483
17 strabismus64 54 Occasional (29-5%) HP:0000486
18 visual impairment64 54 Occasional (29-5%) HP:0000505
19 myopia64 54 Occasional (29-5%) HP:0000545
20 upslanted palpebral fissure64 54 Occasional (29-5%) HP:0000582
21 optic nerve hypoplasia64 54 Frequent (79-30%) HP:0000609
22 nystagmus64 54 Occasional (29-5%) HP:0000639
23 autism64 54 Very frequent (99-80%) HP:0000717
24 delayed speech and language development64 54 Occasional (29-5%) HP:0000750
25 seizures64 54 Frequent (79-30%) HP:0001250
26 hip dysplasia64 54 Occasional (29-5%) HP:0001385
27 ventricular septal defect64 54 Occasional (29-5%) HP:0001629
28 dilated cardiomyopathy64 54 Occasional (29-5%) HP:0001644
29 mitral regurgitation64 54 Occasional (29-5%) HP:0001653
30 thrombocytopenia64 54 Occasional (29-5%) HP:0001873
31 frontal bossing64 54 Frequent (79-30%) HP:0002007
32 dysphagia64 54 Occasional (29-5%) HP:0002015
33 hypoplasia of the corpus callosum64 54 Frequent (79-30%) HP:0002079
34 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
35 intellectual disability, moderate64 54 Frequent (79-30%) HP:0002342
36 highly arched eyebrow64 54 Occasional (29-5%) HP:0002553
37 scoliosis64 54 Occasional (29-5%) HP:0002650
38 kyphosis64 54 Occasional (29-5%) HP:0002808
39 biparietal narrowing64 54 Occasional (29-5%) HP:0004422
40 erythrocyte macrocytosis54 Occasional (29-5%)
41 single median maxillary incisor64 54 Occasional (29-5%) HP:0006315
42 periventricular gray matter heterotopia64 54 Frequent (79-30%) HP:0007165
43 proximal placement of thumb64 54 Occasional (29-5%) HP:0009623
44 abnormal hair pattern64 54 Occasional (29-5%) HP:0010720
45 feeding difficulties64 54 Occasional (29-5%) HP:0011968
46 thick vermilion border64 54 Occasional (29-5%) HP:0012471
47 colpocephaly64 54 Frequent (79-30%) HP:0030048
48 increased mean corpuscular volume64 HP:0005518

Drugs & Therapeutics for 16q24.3 Microdeletion Syndrome

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Interventional clinical trials:

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

Genetic Tests for 16q24.3 Microdeletion Syndrome

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Anatomical Context for 16q24.3 Microdeletion Syndrome

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

36
Testes, Skin

Publications for 16q24.3 Microdeletion Syndrome

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Articles related to 16q24.3 Microdeletion Syndrome:

idTitleAuthorsYear
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

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1subset of 22 genes:ANKRD11NC_ 000016.9: g.(88635000_ 88643461)_ (89611494_ 89628950)deldeletionPathogenicGRCh37Chr 16, 88635000: 89628950
2subset of 32 genes:ANKRD11NC_ 000016.9: g.(?_ 87340135)_ (89335428_ ?)deldeletionPathogenicGRCh37Chr 16, 87340135: 89335428
3subset of 21 genes:ANKRD11NC_ 000016.9: g.(?_ 88230961)_ (89363602_ ?)deldeletionPathogenicGRCh37Chr 16, 88230961: 89363602
4subset of 16 genes:ANKRD11NC_ 000016.9: g.(?_ 88755312)_ (89584412_ ?)deldeletionPathogenicGRCh37Chr 16, 88755312: 89584412
5subset of 21 genes:ANKRD11NC_ 000016.9: g.(?_ 88556191)_ (89557911_ ?)deldeletionPathogenicGRCh37Chr 16, 88556191: 89557911
6covers 13 genes, none of which curated to show dosage sensitivityNC_ 000016.9: g.(?_ 88165980)_ (88914268_ ?)deldeletionPathogenicGRCh37Chr 16, 88165980: 88914268
7subset of 21 genes:ANKRD11NC_ 000016.9: g.(?_ 88230760)_ (89363742_ ?)deldeletionPathogenicGRCh37Chr 16, 88230760: 89363742
8subset of 21 genes:ANKRD11NC_ 000016.9: g.(?_ 88630607)_ (89607742_ ?)deldeletionPathogenicGRCh37Chr 16, 88630607: 89607742
9subset of 33 genes:ANKRD11NC_ 000016.9: g.(?_ 87183661)_ (89520803_ ?)deldeletionPathogenicGRCh37Chr 16, 87183661: 89520803
10ANKRD11; CPNE7; LOC101927817; RPL13; SPG7NC_ 000016.9: g.(?_ 89475451)_ (89652148_ ?)deldeletionPathogenicGRCh37Chr 16, 89475451: 89652148
11ACSF3; ANKRD11; CDH15; LOC101927817; SLC22A31; ZNF778NC_ 000016.9: g.(?_ 89161684)_ (89505106_ ?)deldeletionPathogenicGRCh37Chr 16, 89161684: 89505106
12subset of 19 genes:ANKRD11NC_ 000016.9: g.(?_ 88666177)_ (89472627_ ?)deldeletionPathogenicGRCh37Chr 16, 88666177: 89472627

Expression for genes affiliated with 16q24.3 Microdeletion Syndrome

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

Pathways for genes affiliated with 16q24.3 Microdeletion Syndrome

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GO Terms for genes affiliated with 16q24.3 Microdeletion Syndrome

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Sources for 16q24.3 Microdeletion Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet