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

MCID: 16Q001 MIFTS: 27	16q24.3 Microdeletion Syndrome Categories: Fetal diseases, Rare diseases
Genes Variations 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 ²⁰ ⁵⁸ ⁶

Monosomy 16q24.3 ²⁰ ⁵⁸

Del(16)(q24.3) ²⁰ ⁵⁸

Chromosome 16q24.3 Microdeletion Syndrome ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ³³

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: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³³ Q93.5

Orphanet ⁵⁸ ORPHA261250

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Summaries for 16q24.3 Microdeletion Syndrome

GARD : ²⁰ 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 ACSF3 (Acyl-CoA Synthetase Family Member 3). 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	kbg syndrome	29.4	ZNF778 SPG7 CDH15 ANKRD11
2	autism spectrum disorder	10.2
3	autism	10.1
4	alacrima, achalasia, and mental retardation syndrome	10.1
5	brachydactyly	10.1
6	retinitis pigmentosa 56	9.7	APRT ANKRD11

Graphical network of the top 20 diseases related to 16q24.3 Microdeletion Syndrome:

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Symptoms & Phenotypes for 16q24.3 Microdeletion Syndrome

Human phenotypes related to 16q24.3 Microdeletion Syndrome:

⁵⁸ ³¹ (show all 48)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	autism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000717
2	protruding ear ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000411
3	high forehead ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000348
4	frontal bossing ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002007
5	high palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000218
6	smooth philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000319
7	micrognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000347
8	wide mouth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000154
9	long philtrum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000343
10	ventriculomegaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002119
11	intellectual disability, moderate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002342
12	pointed chin ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000307
13	hypoplasia of the corpus callosum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002079
14	colpocephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0030048
15	optic nerve hypoplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000609
16	periventricular heterotopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007165
17	seizure ³¹	frequent (33%)		HP:0001250
18	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
19	nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000639
20	dysphagia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002015
21	kyphosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002808
22	hearing impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000365
23	chronic otitis media ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000389
24	hip dysplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001385
25	delayed speech and language development ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000750
26	thick vermilion border ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012471
27	anteverted nares ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000463
28	visual impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000505
29	strabismus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000486
30	biparietal narrowing ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004422
31	cryptorchidism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000028
32	myopia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000545
33	thrombocytopenia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001873
34	dilated cardiomyopathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001644
35	mitral regurgitation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001653
36	upslanted palpebral fissure ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000582
37	preauricular skin tag ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000384
38	highly arched eyebrow ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002553
39	long face ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000276
40	ventricular septal defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001629
41	proximal placement of thumb ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009623
42	triangular face ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000325
43	abnormal hair pattern ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010720
44	single median maxillary incisor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006315
45	astigmatism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000483
46	feeding difficulties ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011968
47	increased mean corpuscular volume ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005518
48	seizures ⁵⁸		Frequent (79-30%)

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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

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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. ⁶¹	Spengler S...Eggermann T	23885231	2013
2	A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. ⁶¹	Miyatake S...Matsumoto N	23463723	2013
3	Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. ⁶¹	Khalifa M...Duby J	23494856	2013
4	Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. ⁶¹	Willemsen MH...Kleefstra T	19920853	2010

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Genes for 16q24.3 Microdeletion Syndrome

Genes related to 16q24.3 Microdeletion Syndrome (6 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ACSF3	Acyl-CoA Synthetase Family Member 3	Protein Coding	400	Pathogenic ⁶
2	APRT	Adenine Phosphoribosyltransferase	Protein Coding	400	Pathogenic ⁶
3	BANP	BTG3 Associated Nuclear Protein	Protein Coding	400	Pathogenic ⁶
4	CBFA2T3	CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3	Protein Coding	400	Pathogenic ⁶
5	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	400	Pathogenic ⁶
6	ANKRD11	Ankyrin Repeat Domain 11	Protein Coding	32.45	Role in the phenotype ⁵⁸ GeneCards inferred via : Publications (show sections)
7	ZNF778	Zinc Finger Protein 778	Protein Coding	16.9	GeneCards inferred via : Publications Summaries (show sections)
8	CDH15	Cadherin 15	Protein Coding	7.1	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	Type	Significance	ClinVarId	GRCh37 Pos
1	CBFA2T3	Deletion	Pathogenic	267476	16:88230961-89363602
2	CBFA2T3	Deletion	Pathogenic	267485	16:88666177-89472627
3	ACSF3	Deletion	Pathogenic	267484	16:89161684-89505106
4	CBFA2T3	Deletion	Pathogenic	267481	16:88630607-89607742
5	CBFA2T3	Deletion	Pathogenic	267478	16:88556191-89557911
6	BANP	Deletion	Pathogenic	267475	16:87340135-89335428
7	SPG7	Deletion	Pathogenic	267483	16:89475451-89652148
8	CBFA2T3	Deletion	Pathogenic	267480	16:88230760-89363742
9	CBFA2T3	Deletion	Pathogenic	267477	16:88755312-89584412
10	CBFA2T3	Deletion	Pathogenic	267474	16:88635000-89628950
11	BANP	Deletion	Pathogenic	267482	16:87183661-89520803
12	APRT	Deletion	Pathogenic	267479	16:88165980-88914268

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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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Sources for 16q24.3 Microdeletion Syndrome

¹ BioSystems

² BitterDB

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²⁵ GeneReviews

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²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia