16q24.3 Microdeletion Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: 16Q001 MIFTS: 25	16q24.3 Microdeletion Syndrome Categories: Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for 16q24.3 Microdeletion Syndrome

MalaCards integrated aliases for 16q24.3 Microdeletion Syndrome:

Name: 16q24.3 Microdeletion Syndrome ⁵⁴ ⁶⁰ ⁶

Monosomy 16q24.3 ⁵⁴ ⁶⁰

Del(16)(q24.3) ⁵⁴ ⁶⁰

Chromosome 16q24.3 Microdeletion Syndrome ⁵⁴

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Monosomies and deletions from the autosomes, not elsewhere classified

Other deletions of part of a chromosome

Orphanet: ⁶⁰

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³⁵ Q93.5

Orphanet ⁶⁰ ORPHA261250

SNOMED-CT via HPO ⁷⁰ 103276001 111266001 128602000 more

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Summaries for 16q24.3 Microdeletion Syndrome

NIH Rare Diseases : ⁵⁴ 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 autism and kbg syndrome. 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 autism and protruding ear

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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	10.1
2	kbg syndrome	9.4	ANKRD11 ZNF778

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Symptoms & Phenotypes for 16q24.3 Microdeletion Syndrome

Human phenotypes related to 16q24.3 Microdeletion Syndrome:

⁶⁰ ³³ (show all 47)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	autism ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000717
2	protruding ear ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000411
3	high forehead ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000348
4	frontal bossing ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002007
5	high palate ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000218
6	seizures ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001250
7	smooth philtrum ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000319
8	long philtrum ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000343
9	micrognathia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000347
10	ventriculomegaly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002119
11	optic nerve hypoplasia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000609
12	intellectual disability, moderate ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002342
13	wide mouth ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000154
14	pointed chin ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000307
15	hypoplasia of the corpus callosum ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002079
16	periventricular gray matter heterotopia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0007165
17	colpocephaly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0030048
18	nystagmus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000639
19	dysphagia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002015
20	scoliosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002650
21	kyphosis ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002808
22	hearing impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000365
23	chronic otitis media ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000389
24	hip dysplasia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001385
25	delayed speech and language development ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000750
26	thick vermilion border ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0012471
27	anteverted nares ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000463
28	visual impairment ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000505
29	feeding difficulties ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0011968
30	strabismus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000486
31	biparietal narrowing ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0004422
32	cryptorchidism ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000028
33	myopia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000545
34	thrombocytopenia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001873
35	dilated cardiomyopathy ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001644
36	mitral regurgitation ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001653
37	upslanted palpebral fissure ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000582
38	long face ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000276
39	ventricular septal defect ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001629
40	increased mean corpuscular volume ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0005518
41	abnormal hair pattern ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0010720
42	highly arched eyebrow ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002553
43	triangular face ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000325
44	preauricular skin tag ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000384
45	proximal placement of thumb ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0009623
46	astigmatism ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000483
47	single median maxillary incisor ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0006315

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Drugs & Therapeutics for 16q24.3 Microdeletion Syndrome

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

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Genetic Tests for 16q24.3 Microdeletion Syndrome

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Anatomical Context for 16q24.3 Microdeletion Syndrome

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

⁴²

Testes, Skin

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Publications for 16q24.3 Microdeletion Syndrome

Articles related to 16q24.3 Microdeletion Syndrome:

#	Title	Authors	Year
1	Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. ( 23494856 )	Khalifa M....Duby J.	2013
2	Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. ( 19920853 )	Willemsen M.H....Kleefstra T.	2010

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Genes for 16q24.3 Microdeletion Syndrome

Genes related to 16q24.3 Microdeletion Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ANKRD11	Ankyrin Repeat Domain 11	Protein Coding	42.68	Role in the phenotype ⁶⁰ GeneCards inferred via : Publications (show sections)
2	ZNF778	Zinc Finger Protein 778	Protein Coding	27.08	GeneCards inferred via : Publications Summaries (show sections)
3	CDH15	Cadherin 15	Protein Coding	17.14	GeneCards inferred via : Publications (show sections)

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Variations for 16q24.3 Microdeletion Syndrome

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

⁶ (show all 12)

#	Gene	Variation	Type	Significance	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

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Expression for 16q24.3 Microdeletion Syndrome

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

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Pathways for 16q24.3 Microdeletion Syndrome

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GO Terms for 16q24.3 Microdeletion Syndrome

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