MCID: 16Q001
MIFTS: 19

16q24.3 Microdeletion Syndrome malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for 16q24.3 Microdeletion Syndrome

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Sources:
30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet
See all MalaCards sources

Aliases & Descriptions for 16q24.3 Microdeletion Syndrome:

Name: 16q24.3 Microdeletion Syndrome 47 53
Monosomy 16q24.3 47 53
 
Del(16)(q24.3) 47 53
Chromosome 16q24.3 Microdeletion Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
16q24.3 microdeletion syndrome:
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet53 ORPHA261250
ICD10 via Orphanet30 Q93.5

Summaries for 16q24.3 Microdeletion Syndrome

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MalaCards based summary: 16q24.3 Microdeletion Syndrome, also known as monosomy 16q24.3, is related to hyperammonemia due to carbonic anhydrase va deficiency and ring chromosome 17, and has symptoms including high forehead, abnormality of the pinna and autism. An important gene associated with 16q24.3 Microdeletion Syndrome is ANKRD11 (Ankyrin Repeat Domain 11). Affiliated tissues include skin and bone.

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 deficiency9.5ANKRD11, ZNF778
2ring chromosome 178.8ANKRD11, CDH15, ZNF778

Symptoms for 16q24.3 Microdeletion Syndrome

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Human phenotypes related to 16q24.3 Microdeletion Syndrome:

 63 53 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000348
2 abnormality of the pinna63 hallmark (90%) HP:0000377
3 autism63 53 hallmark (90%) Very frequent (99-80%) HP:0000717
4 wide mouth63 53 typical (50%) Frequent (79-30%) HP:0000154
5 abnormality of the palate63 typical (50%) HP:0000174
6 pointed chin63 53 typical (50%) Frequent (79-30%) HP:0000307
7 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
8 optic atrophy63 typical (50%) HP:0000648
9 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
10 thrombocytopenia63 53 typical (50%) Occasional (29-5%) HP:0001873
11 frontal bossing63 53 typical (50%) Frequent (79-30%) HP:0002007
12 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
13 abnormality of neuronal migration63 typical (50%) HP:0002269
14 aplasia/hypoplasia of the corpus callosum63 typical (50%) HP:0007370
15 cognitive impairment63 typical (50%) HP:0100543
16 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
17 thick lower lip vermilion63 occasional (7.5%) HP:0000179
18 long face63 53 occasional (7.5%) Occasional (29-5%) HP:0000276
19 triangular face63 53 occasional (7.5%) Occasional (29-5%) HP:0000325
20 narrow forehead63 occasional (7.5%) HP:0000341
21 long philtrum63 53 occasional (7.5%) Frequent (79-30%) HP:0000343
22 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
23 preauricular skin tag63 53 occasional (7.5%) Occasional (29-5%) HP:0000384
24 otitis media63 occasional (7.5%) HP:0000388
25 anteverted nares63 53 occasional (7.5%) Occasional (29-5%) HP:0000463
26 astigmatism63 53 occasional (7.5%) Occasional (29-5%) HP:0000483
27 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
28 visual impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000505
29 myopia63 53 occasional (7.5%) Occasional (29-5%) HP:0000545
30 upslanted palpebral fissure63 53 occasional (7.5%) Occasional (29-5%) HP:0000582
31 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
32 ventricular septal defect63 53 occasional (7.5%) Occasional (29-5%) HP:0001629
33 abnormality of the mitral valve63 occasional (7.5%) HP:0001633
34 hypertrophic cardiomyopathy63 occasional (7.5%) HP:0001639
35 macrocytic anemia63 occasional (7.5%) HP:0001972
36 neurological speech impairment63 occasional (7.5%) HP:0002167
37 highly arched eyebrow63 53 occasional (7.5%) Occasional (29-5%) HP:0002553
38 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
39 kyphosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002808
40 abnormality of the hip bone63 occasional (7.5%) HP:0003272
41 single median maxillary incisor63 53 occasional (7.5%) Occasional (29-5%) HP:0006315
42 feeding difficulties in infancy63 occasional (7.5%) HP:0008872
43 proximal placement of thumb63 53 occasional (7.5%) Occasional (29-5%) HP:0009623
44 high palate53 Frequent (79-30%)
45 smooth philtrum53 Frequent (79-30%)
46 chronic otitis media53 Occasional (29-5%)
47 protruding ear53 Very frequent (99-80%)
48 optic nerve hypoplasia53 Frequent (79-30%)
49 delayed speech and language development53 Occasional (29-5%)
50 hip dysplasia53 Occasional (29-5%)
51 dilated cardiomyopathy53 Occasional (29-5%)
52 mitral regurgitation53 Occasional (29-5%)
53 dysphagia53 Occasional (29-5%)
54 hypoplasia of the corpus callosum53 Frequent (79-30%)
55 intellectual disability, moderate53 Frequent (79-30%)
56 biparietal narrowing53 Occasional (29-5%)
57 erythrocyte macrocytosis53 Occasional (29-5%)
58 periventricular gray matter heterotopia53 Frequent (79-30%)
59 abnormal hair pattern53 Occasional (29-5%)
60 feeding difficulties53 Occasional (29-5%)
61 thick vermilion border53 Occasional (29-5%)
62 colpocephaly53 Frequent (79-30%)

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:

35
Skin, Bone

Animal Models for 16q24.3 Microdeletion Syndrome or affiliated genes

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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_000016.9deletionPathogenicGRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet