MCID: CHR502
MIFTS: 22

Chromosome 17q12 Duplication Syndrome

Categories: Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Chromosome 17q12 Duplication Syndrome

MalaCards integrated aliases 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);

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene duplication syndrome


HPO:

32
chromosome 17q12 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



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, cleft palate and polyhydramnios. An important gene associated with Chromosome 17q12 Duplication Syndrome is DUP17Q12 (Chromosome 17q12 Duplication Syndrome). Affiliated tissues include eye and tongue.

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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
mental retardation
seizures (in some patients)
cortical dysplasia, focal (in some patients)
corpus callosum, thin (rare)
axial hypotonia (rare)

Head And Neck- Head:
dolicocephaly (rare)

Head And Neck- Mouth:
cleft soft palate (rare)
rotational tongue movements (rare)

Head And Neck- Ears:
large anteverted ears (rare)

Genitourinary- Kidneys:
megacalicosis, unilateral (rare)

Skeletal- Feet:
broad toes (rare)

Cardiovascular- Heart:
atrial septal defect (rare)

Head And Neck- Eyes:
glaucoma (rare)
microphthalmia (rare)
deep-set eyes (rare)
downslanting palpebral fissures (rare)
peters anomaly (rare)

Head And Neck- Face:
smooth philtrum (rare)
triangular face (rare)
hypotonic facies (rare)
micrognathia (rare)

Abdomen- Gastroin testinal:
esophageal atresia (rare)

Skeletal- Hands:
brachydactyly, mild (rare)
broad thumbs (rare)
short second fingers bilaterally (rare)
clinodactyly, fifth finger (rare)


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 (7.5%) Occasional (29-5%) HP:0001250
2 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 polyhydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001561
4 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
5 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
6 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
7 synophrys 56 32 occasional (7.5%) Occasional (29-5%) HP:0000664
8 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
9 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
10 self-injurious behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0100716
11 tracheoesophageal fistula 56 32 occasional (7.5%) Occasional (29-5%) HP:0002575
12 cortical dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0002539
13 language impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0002463
14 delayed speech and language development 56 32 occasional (7.5%) Occasional (29-5%) HP:0000750
15 abnormality of the vertebrae 56 32 occasional (7.5%) Occasional (29-5%) HP:0003468
16 deeply set eye 56 32 occasional (7.5%) Occasional (29-5%) HP:0000490
17 micrognathia 32 occasional (7.5%) HP:0000347
18 atrial septal defect 32 occasional (7.5%) HP:0001631
19 peters anomaly 32 occasional (7.5%) HP:0000659
20 triangular face 32 occasional (7.5%) HP:0000325
21 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
22 smooth philtrum 32 occasional (7.5%) HP:0000319
23 esophageal atresia 32 occasional (7.5%) HP:0002032
24 broad thumb 32 occasional (7.5%) HP:0011304
25 cleft soft palate 32 occasional (7.5%) HP:0000185
26 atria septal defect 56 Occasional (29-5%)
27 muscular hypotonia of the trunk 32 occasional (7.5%) HP:0008936

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, Tongue

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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