MCID: CHR524
MIFTS: 26

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 15 73
16p13.3 Microduplication Syndrome 12 53 59
Telomeric Duplication 16p 12 53 59
Distal Duplication 16p 12 53 59
Distal Trisomy 16p 12 53 59
Dup(16)(p13.3) 53 59
Trisomy 16pter 53 59
Interstitial 16p13.3 Duplication 53
Chromosome 16p13.3 Duplication 53
16p13.3 Duplication 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

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


HPO:

32
chromosome 16p13.3 duplication syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 16p13.3 Duplication Syndrome

NIH Rare Diseases : 53 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 malar flattening and low-set ears

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 low-set ears 32 HP:0000369
3 pectus excavatum 32 occasional (7.5%) HP:0000767
4 ptosis 32 HP:0000508
5 global developmental delay 32 HP:0001263
6 short nose 32 HP:0003196
7 intellectual disability, mild 32 HP:0001256
8 atrial septal defect 32 HP:0001631
9 short toe 32 HP:0001831
10 pes cavus 32 HP:0001761
11 protruding ear 32 HP:0000411
12 hip dislocation 32 occasional (7.5%) HP:0002827
13 upslanted palpebral fissure 32 HP:0000582
14 long face 32 HP:0000276
15 bulbous nose 32 HP:0000414
16 ventricular septal defect 32 HP:0001629
17 midface retrusion 32 HP:0011800
18 proximal placement of thumb 32 HP:0009623
19 tapered finger 32 HP:0001182
20 autistic behavior 32 occasional (7.5%) HP:0000729
21 short phalanx of finger 32 HP:0009803
22 camptodactyly 32 HP:0012385

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:

41
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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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