MCID: CHR362
MIFTS: 18

Chromosome 17q21.31 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 17q21.31 Duplication Syndrome

MalaCards integrated aliases for Chromosome 17q21.31 Duplication Syndrome:

Name: Chromosome 17q21.31 Duplication Syndrome 58 12 30 13 15 74
17q21.31 Microduplication Syndrome 12 60
Trisomy 17q21.31 12 60
Dup(17)(q21.31) 60

Characteristics:

Orphanet epidemiological data:

60
17q21.31 microduplication syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Chromosome 17q21.31 Duplication Syndrome

MalaCards based summary : Chromosome 17q21.31 Duplication Syndrome, is also known as 17q21.31 microduplication syndrome. An important gene associated with Chromosome 17q21.31 Duplication Syndrome is DUP17Q21.31 (Chromosome 17q21.31 Duplication Syndrome). Related phenotypes are intellectual disability and global developmental delay

Description from OMIM: 613533

Related Diseases for Chromosome 17q21.31 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 17q21.31 Duplication Syndrome

Human phenotypes related to Chromosome 17q21.31 Duplication Syndrome:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 autism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000717
4 abnormality of the outer ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000356
5 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
6 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
7 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
8 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
9 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
10 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
11 generalized hirsutism 60 33 frequent (33%) Frequent (79-30%) HP:0002230
12 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
13 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
14 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
15 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
16 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
17 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
18 thick eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0000574
19 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
20 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
21 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
22 sandal gap 60 33 occasional (7.5%) Occasional (29-5%) HP:0001852
23 obsessive-compulsive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000722
24 synophrys 60 33 occasional (7.5%) Occasional (29-5%) HP:0000664
25 autistic behavior 60 Frequent (79-30%)

Clinical features from OMIM:

613533

Drugs & Therapeutics for Chromosome 17q21.31 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17q21.31 Duplication Syndrome

Genetic Tests for Chromosome 17q21.31 Duplication Syndrome

Genetic tests related to Chromosome 17q21.31 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 17q21.31 Duplication Syndrome 30

Anatomical Context for Chromosome 17q21.31 Duplication Syndrome

Publications for Chromosome 17q21.31 Duplication Syndrome

Variations for Chromosome 17q21.31 Duplication Syndrome

Expression for Chromosome 17q21.31 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 17q21.31 Duplication Syndrome.

Pathways for Chromosome 17q21.31 Duplication Syndrome

GO Terms for Chromosome 17q21.31 Duplication Syndrome

Sources for Chromosome 17q21.31 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
Content
Loading form....