MCID: CHR362
MIFTS: 19

Chromosome 17q21.31 Duplication Syndrome

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

Aliases & Classifications for Chromosome 17q21.31 Duplication Syndrome

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

Name: Chromosome 17q21.31 Duplication Syndrome 57 12 29 13 15 73
17q21.31 Microduplication Syndrome 12 59
Trisomy 17q21.31 12 59
Dup(17)(q21.31) 59

Characteristics:

Orphanet epidemiological data:

59
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 abnormality of the dentition and high palate

Description from OMIM: 613533

Related Diseases for Chromosome 17q21.31 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 17q21.31 Duplication Syndrome

Clinical features from OMIM:

613533

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

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
4 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
5 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
6 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
7 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
8 abnormality of the outer ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000356
9 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
10 thick eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0000574
11 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
12 autism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000717
13 obsessive-compulsive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000722
14 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
15 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
16 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
17 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
18 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
19 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
20 sandal gap 59 32 occasional (7.5%) Occasional (29-5%) HP:0001852
21 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
22 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
23 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
24 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
25 autistic behavior 59 Frequent (79-30%)

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 29

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 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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