MCID: CHR524
MIFTS: 24

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 58 12 30 13 6 74
16p13.3 Microduplication Syndrome 12 54 60
Telomeric Duplication 16p 12 54 60
Distal Duplication 16p 12 54 60
Distal Trisomy 16p 12 54 60
Dup(16)(p13.3) 54 60
Trisomy 16pter 54 60
Interstitial 16p13.3 Duplication 54
Chromosome 16p13.3 Duplication 54
16p13.3 Duplication 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
isolated cases

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


HPO:

33
chromosome 16p13.3 duplication syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 16p13.3 Duplication Syndrome

NIH Rare Diseases : 54 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 aortic valve disease 1 and pierre robin syndrome. 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

Description 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:

# Related Disease Score Top Affiliating Genes
1 aortic valve disease 1 10.0
2 pierre robin syndrome 10.0
3 isolated pierre robin sequence 10.0

Symptoms & Phenotypes for Chromosome 16p13.3 Duplication Syndrome

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

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 occasional (7.5%) HP:0000767
2 hip dislocation 33 occasional (7.5%) HP:0002827
3 autistic behavior 33 occasional (7.5%) HP:0000729
4 malar flattening 33 HP:0000272
5 low-set ears 33 HP:0000369
6 ptosis 33 HP:0000508
7 global developmental delay 33 HP:0001263
8 short nose 33 HP:0003196
9 intellectual disability, mild 33 HP:0001256
10 atrial septal defect 33 HP:0001631
11 short toe 33 HP:0001831
12 pes cavus 33 HP:0001761
13 protruding ear 33 HP:0000411
14 upslanted palpebral fissure 33 HP:0000582
15 long face 33 HP:0000276
16 bulbous nose 33 HP:0000414
17 ventricular septal defect 33 HP:0001629
18 midface retrusion 33 HP:0011800
19 proximal placement of thumb 33 HP:0009623
20 tapered finger 33 HP:0001182
21 short phalanx of finger 33 HP:0009803
22 camptodactyly 33 HP:0012385

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
protruding ears

Head And Neck Nose:
short nose
bulbous nose

Skeletal Feet:
pes cavus
camptodactyly
short toes
proximally placed toes

Skeletal Hands:
long fingers
camptodactyly
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 Eyes:
ptosis
upslanting palpebral fissures

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

Head And Neck Face:
long face
midface hypoplasia

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

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 30

Anatomical Context for Chromosome 16p13.3 Duplication Syndrome

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

42
Heart

Publications for Chromosome 16p13.3 Duplication Syndrome

Articles related to Chromosome 16p13.3 Duplication Syndrome:

# Title Authors Year
1
16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance. ( 25493098 )
2014
2
Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies. ( 22307725 )
2012
3
A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype? ( 21373258 )
2011

Variations for Chromosome 16p13.3 Duplication Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 161 genes:CREBBP; PKD1; TSC2 GRCh37/hg19 16p13.3(chr16: 109978-4316797) copy number gain Pathogenic GRCh37 Chromosome 16, 109978: 4316797

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

Sources for Chromosome 16p13.3 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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