MCID: CHR362
MIFTS: 33

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 57 12 29 13 15 70
17q21.31 Microduplication Syndrome 12 58
Trisomy 17q21.31 12 58
Dup(17)(q21.31) 58

Characteristics:

Orphanet epidemiological data:

58
17q21.31 microduplication syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 17q21.31 Duplication Syndrome

Disease Ontology : 12 A chromosomal duplication syndrome that has material basis in duplication of the chromosome 17q21.31 region.

MalaCards based summary : Chromosome 17q21.31 Duplication Syndrome, also known as 17q21.31 microduplication syndrome, is related to binswanger's disease and mild cognitive impairment. An important gene associated with Chromosome 17q21.31 Duplication Syndrome is DUP17Q21.31 (Chromosome 17q21.31 Duplication Syndrome), and among its related pathways/superpathways are Neuroscience and Alzheimers Disease. Related phenotypes are intellectual disability and global developmental delay

More information from OMIM: 613533

Related Diseases for Chromosome 17q21.31 Duplication Syndrome

Diseases related to Chromosome 17q21.31 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 binswanger's disease 10.0 MAPT APP
2 mild cognitive impairment 10.0 MAPT APP
3 alzheimer disease 2 10.0 MAPT APP
4 early-onset, autosomal dominant alzheimer disease 9.9 MAPT APP
5 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.9 MAPT APP
6 alzheimer disease 18 9.9 SNCA APP
7 amnestic disorder 9.9 MAPT APP
8 chronic wasting disease 9.8 SNCA APP
9 amyloidosis, hereditary, transthyretin-related 9.8 SNCA APP
10 ideomotor apraxia 9.8 SNCA MAPT
11 akinetic mutism 9.8 SNCA MAPT
12 postencephalitic parkinson disease 9.8 SNCA MAPT
13 coenzyme q10 deficiency, primary, 1 9.8 SNCA MAPT
14 alzheimer disease 7 9.8 SNCA MAPT
15 alzheimer disease 9 9.8 SNCA MAPT
16 parkinson disease 3, autosomal dominant 9.8 SNCA MAPT
17 neuronal intranuclear inclusion disease 9.8 SNCA MAPT
18 normal pressure hydrocephalus 9.8 MAPT APP
19 parkinson disease 1, autosomal dominant 9.8 SNCA MAPT
20 rem sleep behavior disorder 9.8 SNCA MAPT
21 perry syndrome 9.8 SNCA MAPT
22 olivopontocerebellar atrophy 9.7 SNCA MAPT
23 inclusion body myositis 9.7 MAPT APP
24 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.7 SNCA MAPT
25 parkinsonism 9.7 SNCA MAPT
26 koolen-de vries syndrome 9.6 SPPL2C MAPT KANSL1 CRHR1
27 basal ganglia calcification 9.6 MAPT APP
28 arteriolosclerosis 9.6 SNCA MAPT APP
29 communicating hydrocephalus 9.5 SNCA MAPT APP
30 kuru 9.5 SNCA MAPT APP
31 fatal familial insomnia 9.5 SNCA MAPT APP
32 gerstmann-straussler disease 9.5 SNCA MAPT APP
33 leukoencephalopathy, hereditary diffuse, with spheroids 9.5 SNCA MAPT APP
34 aphasia 9.5 SNCA MAPT APP
35 scrapie 9.5 SNCA MAPT APP
36 toxic encephalopathy 9.5 SNCA MAPT APP
37 dementia 9.5 SNCA MAPT APP
38 cerebral amyloid angiopathy, cst3-related 9.5 SNCA MAPT APP
39 chromosomal duplication syndrome 9.5 SNCA MAPT APP
40 prion disease 9.5 SNCA MAPT APP
41 dementia, lewy body 9.5 SNCA MAPT APP
42 cerebellar disease 9.5 SNCA MAPT APP
43 speech and communication disorders 9.5 SNCA MAPT APP
44 multiple system atrophy 1 9.5 SNCA MAPT
45 myositis 9.5 SNCA MAPT APP
46 movement disease 9.5 SNCA MAPT APP
47 amyloidosis 9.5 SNCA MAPT APP
48 alcohol dependence 9.5 SNCA GRM8 CRHR1
49 autosomal dominant cerebellar ataxia 9.5 SNCA MAPT APP
50 anxiety 9.5 SNCA CRHR1 APP

Graphical network of the top 20 diseases related to Chromosome 17q21.31 Duplication Syndrome:



Diseases related to Chromosome 17q21.31 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 17q21.31 Duplication Syndrome

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

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 autism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000717
4 abnormality of the outer ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000356
5 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
6 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
7 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
8 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
9 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
10 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
11 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
12 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
13 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
14 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
15 hypotonia 31 frequent (33%) HP:0001252
16 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
17 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
18 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
19 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
20 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
21 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
22 sandal gap 58 31 occasional (7.5%) Occasional (29-5%) HP:0001852
23 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
24 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
25 muscular hypotonia 58 Frequent (79-30%)
26 autistic behavior 58 Frequent (79-30%)

Clinical features from OMIM®:

613533 (Updated 05-Apr-2021)

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

Articles related to Chromosome 17q21.31 Duplication Syndrome:

# Title Authors PMID Year
1
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction. 57
19502243 2009
2
A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. 57
17576104 2007
3
Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum. 61
26565673 2016

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

Pathways related to Chromosome 17q21.31 Duplication Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.97 SNCA MAPT APP
2 10.97 SNCA MAPT APP
3 10.89 MAPT APP
4 10.61 MAPT APP

GO Terms for Chromosome 17q21.31 Duplication Syndrome

Cellular components related to Chromosome 17q21.31 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rough endoplasmic reticulum GO:0005791 9.16 SNCA APP
2 growth cone GO:0030426 9.13 SNCA MAPT APP
3 main axon GO:0044304 8.62 MAPT APP

Biological processes related to Chromosome 17q21.31 Duplication Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 learning or memory GO:0007611 9.54 MAPT APP
2 adult locomotory behavior GO:0008344 9.52 SNCA APP
3 positive regulation of neuron death GO:1901216 9.51 SNCA MAPT
4 cellular response to nerve growth factor stimulus GO:1990090 9.49 MAPT APP
5 response to interleukin-1 GO:0070555 9.48 SNCA APP
6 regulation of presynapse assembly GO:1905606 9.46 SNCA APP
7 cellular response to copper ion GO:0071280 9.43 SNCA APP
8 response to lead ion GO:0010288 9.4 MAPT APP
9 regulation of long-term neuronal synaptic plasticity GO:0048169 9.37 SNCA APP
10 astrocyte activation GO:0048143 9.32 MAPT APP
11 supramolecular fiber organization GO:0097435 9.26 SNCA MAPT
12 amyloid fibril formation GO:1990000 9.16 MAPT APP
13 synapse organization GO:0050808 9.13 SNCA MAPT APP
14 microglial cell activation GO:0001774 8.8 SNCA MAPT APP

Molecular functions related to Chromosome 17q21.31 Duplication Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.8 SNCA MAPT APP

Sources for Chromosome 17q21.31 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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