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

MCID: 16Q001 MIFTS: 25	16q24.3 Microdeletion Syndrome Categories: Rare diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download 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 ⁵³ ⁵⁹ ⁶

Monosomy 16q24.3 ⁵³ ⁵⁹

Del(16)(q24.3) ⁵³ ⁵⁹

Chromosome 16q24.3 Microdeletion Syndrome ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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: ³⁴

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: ⁵⁹

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ ORPHA261250

ICD10 via Orphanet ³⁴ Q93.5

SNOMED-CT via HPO ⁶⁹ 204878001 40159009 27272007 more

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Summaries for 16q24.3 Microdeletion Syndrome

NIH Rare Diseases : ⁵³ 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 cryptorchidism and wide mouth

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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	10.0
2	kbg syndrome	8.2	ANKRD11 CDH15 ZNF778

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Symptoms & Phenotypes for 16q24.3 Microdeletion Syndrome

Human phenotypes related to 16q24.3 Microdeletion Syndrome:

⁵⁹ ³² (show all 47)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	cryptorchidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000028
2	wide mouth ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000154
3	high palate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000218
4	long face ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000276
5	pointed chin ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000307
6	smooth philtrum ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000319
7	triangular face ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000325
8	long philtrum ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000343
9	micrognathia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000347
10	high forehead ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000348
11	hearing impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000365
12	preauricular skin tag ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000384
13	chronic otitis media ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000389
14	protruding ear ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000411
15	anteverted nares ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000463
16	astigmatism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000483
17	strabismus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000486
18	visual impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000505
19	myopia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000545
20	upslanted palpebral fissure ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000582
21	optic nerve hypoplasia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000609
22	nystagmus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000639
23	autism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000717
24	delayed speech and language development ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000750
25	seizures ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001250
26	hip dysplasia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001385
27	ventricular septal defect ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001629
28	dilated cardiomyopathy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001644
29	mitral regurgitation ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001653
30	thrombocytopenia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001873
31	frontal bossing ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002007
32	dysphagia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002015
33	hypoplasia of the corpus callosum ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002079
34	ventriculomegaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002119
35	intellectual disability, moderate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002342
36	highly arched eyebrow ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002553
37	scoliosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002650
38	kyphosis ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002808
39	biparietal narrowing ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0004422
40	increased mean corpuscular volume ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0005518
41	single median maxillary incisor ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0006315
42	periventricular gray matter heterotopia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007165
43	proximal placement of thumb ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0009623
44	abnormal hair pattern ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010720
45	feeding difficulties ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0011968
46	thick vermilion border ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0012471
47	colpocephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0030048

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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:

⁴¹

Testes, Skin

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Publications for 16q24.3 Microdeletion Syndrome

Articles related to 16q24.3 Microdeletion Syndrome:

#	Title	Authors	Year
1	Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. ( 28422132 )	Novara F....Zuffardi O.	2017
2	Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. ( 23494856 )	Khalifa M....Duby J.	2013
3	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	42.76	Role in the phenotype ⁵⁹ GeneCards inferred via : Publications (show sections)
2	ZNF778	Zinc Finger Protein 778	Protein Coding	27.23	GeneCards inferred via : Publications Summaries (show sections)
3	CDH15	Cadherin 15	Protein Coding	17.21	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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