MCID: CHR524
MIFTS: 29

Chromosome 16p13.3 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 16p13.3 Duplication Syndrome

MalaCards integrated aliases for Chromosome 16p13.3 Duplication Syndrome:

Name: Chromosome 16p13.3 Duplication Syndrome 57 12 29 13 6 15 70
16p13.3 Microduplication Syndrome 12 20 58
Telomeric Duplication 16p 12 20 58
Distal Duplication 16p 12 20 58
Distal Trisomy 16p 12 20 58
Dup(16)(p13.3) 20 58
Trisomy 16pter 20 58
Interstitial 16p13.3 Duplication 20
Chromosome 16p13.3 Duplication 20
16p13.3 Duplication 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
variable phenotype
contiguous gene duplication syndrome
all patients have duplication of at least the crebbp gene


HPO:

31
chromosome 16p13.3 duplication syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060431
OMIM® 57 613458
ICD10 32 Q92.3
ICD10 via Orphanet 33 Q92.3
Orphanet 58 ORPHA96078
MedGen 41 C3150708
UMLS 70 C3150708

Summaries for Chromosome 16p13.3 Duplication Syndrome

GARD : 20 Chromosome 16p13.3 duplication is a chromosome abnormality that can affect many parts of the body. People with this condition have an extra piece of genetic material ( duplication ) on chromosome 16 at a location designated p13.3. The symptoms and severity vary from person to person because not everyone with a 16p13.3 duplication has the same amount of extra DNA. Possible symptoms include developmental delay, speech delay, joint abnormalities, characteristic facial features, attention deficit, autism spectrum disorders, and underlying health problems such as heart conditions. Most cases are not inherited and occur randomly. Less commonly, the duplication is inherited from a parent. Regardless, a person with the duplication can pass it on to his/her child. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Chromosome 16p13.3 Duplication Syndrome, also known as 16p13.3 microduplication syndrome, is related to cleft lip and chromosomal triplication. An important gene associated with Chromosome 16p13.3 Duplication Syndrome is DUP16P13.3 (Chromosome 16p13.3 Duplication Syndrome). Affiliated tissues include heart, and related phenotypes are pectus excavatum and hip dislocation

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 16p13.3 region.

More information from OMIM: 613458

Related Diseases for Chromosome 16p13.3 Duplication Syndrome

Diseases related to Chromosome 16p13.3 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 cleft lip 10.0
2 chromosomal triplication 10.0
3 cleft lip/palate 10.0
4 monosomy 22 10.0
5 cleft palate, isolated 9.9
6 pierre robin syndrome 9.9
7 alacrima, achalasia, and mental retardation syndrome 9.9
8 ptosis 9.9
9 congenital ptosis 9.9
10 inguinal hernia 9.9
11 umbilical hernia 9.9
12 microcephaly 9.9
13 clubfoot 9.9
14 isolated pierre robin sequence 9.9
15 congenital amyoplasia 9.9
16 phelan-mcdermid syndrome 9.6 RABL2B RABL2A
17 potocki-lupski syndrome 9.5 RABL2B RABL2A

Graphical network of the top 20 diseases related to Chromosome 16p13.3 Duplication Syndrome:



Diseases related to Chromosome 16p13.3 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 16p13.3 Duplication Syndrome

Human phenotypes related to Chromosome 16p13.3 Duplication Syndrome:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 occasional (7.5%) HP:0000767
2 hip dislocation 31 occasional (7.5%) HP:0002827
3 autistic behavior 31 occasional (7.5%) HP:0000729
4 ptosis 31 HP:0000508
5 global developmental delay 31 HP:0001263
6 short nose 31 HP:0003196
7 intellectual disability, mild 31 HP:0001256
8 low-set ears 31 HP:0000369
9 atrial septal defect 31 HP:0001631
10 short toe 31 HP:0001831
11 upslanted palpebral fissure 31 HP:0000582
12 long face 31 HP:0000276
13 protruding ear 31 HP:0000411
14 malar flattening 31 HP:0000272
15 bulbous nose 31 HP:0000414
16 ventricular septal defect 31 HP:0001629
17 pes cavus 31 HP:0001761
18 proximal placement of thumb 31 HP:0009623
19 midface retrusion 31 HP:0011800
20 tapered finger 31 HP:0001182
21 short phalanx of finger 31 HP:0009803
22 camptodactyly 31 HP:0012385

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
upslanting palpebral fissures

Head And Neck Ears:
low-set ears
protruding ears

Head And Neck Face:
long face
midface hypoplasia

Skeletal Hands:
camptodactyly
long fingers
short fingers
proximally placed thumbs
tapering fingers

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems
autism spectrum disorder (less common)

Skeletal Pelvis:
hip dislocation (less common)

Head And Neck Nose:
short nose
bulbous nose

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
congenital heart defects (less common)

Skeletal Feet:
pes cavus
camptodactyly
short toes
proximally placed toes

Neurologic Central Nervous System:
mental retardation, mild
speech defects
developmental delay, mild to moderate
low-normal intelligence

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (less common)

Clinical features from OMIM®:

613458 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Chromosome 16p13.3 Duplication Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.92 RABL2A RABL2B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.92 RABL2A RABL2B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.92 RABL2A RABL2B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.92 RABL2A RABL2B

Drugs & Therapeutics for Chromosome 16p13.3 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 16p13.3 Duplication Syndrome

Genetic Tests for Chromosome 16p13.3 Duplication Syndrome

Genetic tests related to Chromosome 16p13.3 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 16p13.3 Duplication Syndrome 29

Anatomical Context for Chromosome 16p13.3 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 16p13.3 Duplication Syndrome:

40
Heart

Publications for Chromosome 16p13.3 Duplication Syndrome

Articles related to Chromosome 16p13.3 Duplication Syndrome:

# Title Authors PMID Year
1
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. 57
21792059 2011
2
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. 57
19786961 2011
3
Penetrance for copy number variants associated with schizophrenia. 57
20587603 2010
4
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. 57
19833603 2010
5
Population analysis of large copy number variants and hotspots of human genetic disease. 57
19166990 2009
6
Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2). 61
10451531 1999

Variations for Chromosome 16p13.3 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 16p13.3 Duplication Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 161 genes GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Pathogenic 625723 GRCh37: 16:109978-4316797
GRCh38:

Expression for Chromosome 16p13.3 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 16p13.3 Duplication Syndrome.

Pathways for Chromosome 16p13.3 Duplication Syndrome

GO Terms for Chromosome 16p13.3 Duplication Syndrome

Cellular components related to Chromosome 16p13.3 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endomembrane system GO:0012505 8.62 RABL2B RABL2A

Sources for Chromosome 16p13.3 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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