MCID: CHR502
MIFTS: 18

Chromosome 17q12 Duplication Syndrome malady

Categories: Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 17q12 Duplication Syndrome

Aliases & Descriptions for Chromosome 17q12 Duplication Syndrome:

Name: Chromosome 17q12 Duplication Syndrome 54 12 29 13 69
17q12 Microduplication Syndrome 12 56
Trisomy 17q12 12 56
Dup(17)(q12) 56

Characteristics:

Orphanet epidemiological data:

56
17q12 microduplication syndrome
Prevalence: <1/1000000 (Worldwide);

HPO:

32
chromosome 17q12 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614526
Disease Ontology 12 DOID:0060433
ICD10 33 Q92.3
Orphanet 56 ORPHA261272
ICD10 via Orphanet 34 Q92.3

Summaries for Chromosome 17q12 Duplication Syndrome

MalaCards based summary : Chromosome 17q12 Duplication Syndrome, also known as 17q12 microduplication syndrome, is related to 17q12 duplication, and has symptoms including seizures, finger syndactyly and intellectual disability. An important gene associated with Chromosome 17q12 Duplication Syndrome is DUP17Q12 (Chromosome 17q12 Duplication Syndrome). Affiliated tissues include eye.

Description from OMIM: 614526

Related Diseases for Chromosome 17q12 Duplication Syndrome

Diseases related to Chromosome 17q12 Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 17q12 duplication 11.2

Symptoms & Phenotypes for Chromosome 17q12 Duplication Syndrome

Symptoms by clinical synopsis from OMIM:

614526

Clinical features from OMIM:

614526

Human phenotypes related to Chromosome 17q12 Duplication Syndrome:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
3 intellectual disability 56 32 Occasional (29-5%) HP:0001249
4 self-injurious behavior 56 32 Occasional (29-5%) HP:0100716
5 delayed speech and language development 56 32 Occasional (29-5%) HP:0000750
6 abnormality of the vertebrae 56 32 Occasional (29-5%) HP:0003468
7 cleft palate 56 32 Occasional (29-5%) HP:0000175
8 microphthalmia 56 32 Occasional (29-5%) HP:0000568
9 deeply set eye 56 32 Occasional (29-5%) HP:0000490
10 glaucoma 56 32 Occasional (29-5%) HP:0000501
11 polyhydramnios 56 32 Occasional (29-5%) HP:0001561
12 tracheoesophageal fistula 56 32 Occasional (29-5%) HP:0002575
13 toe syndactyly 56 32 Occasional (29-5%) HP:0001770
14 synophrys 56 32 Occasional (29-5%) HP:0000664
15 cortical dysplasia 56 32 Frequent (79-30%) HP:0002539
16 language impairment 56 32 Occasional (29-5%) HP:0002463
17 smooth philtrum 32 HP:0000319
18 broad thumb 32 HP:0011304
19 micrognathia 32 HP:0000347
20 atria septal defect 56 Occasional (29-5%)
21 downslanted palpebral fissures 32 HP:0000494
22 triangular face 32 HP:0000325
23 esophageal atresia 32 HP:0002032
24 peters anomaly 32 HP:0000659
25 muscular hypotonia of the trunk 32 HP:0008936
26 cleft soft palate 32 HP:0000185
27 atrial septal defect 32 HP:0001631

Drugs & Therapeutics for Chromosome 17q12 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17q12 Duplication Syndrome

Genetic Tests for Chromosome 17q12 Duplication Syndrome

Genetic tests related to Chromosome 17q12 Duplication Syndrome:

id Genetic test Affiliating Genes
1 Chromosome 17q12 Duplication Syndrome 29

Anatomical Context for Chromosome 17q12 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 17q12 Duplication Syndrome:

39
Eye

Publications for Chromosome 17q12 Duplication Syndrome

Variations for Chromosome 17q12 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 17q12 Duplication Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 undetermined variant Pathogenic

Expression for Chromosome 17q12 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 17q12 Duplication Syndrome.

Pathways for Chromosome 17q12 Duplication Syndrome

GO Terms for Chromosome 17q12 Duplication Syndrome

Sources for Chromosome 17q12 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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