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 53 12 28 13 69
17q12 Microduplication Syndrome 12 55
Trisomy 17q12 12 55
Dup(17)(q12) 55

Characteristics:

Orphanet epidemiological data:

55
17q12 microduplication syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene duplication syndrome


HPO:

31
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, finger syndactyly and intellectual disability. 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:

# Related Disease Score Top Affiliating Genes
1 17q12 duplication 11.4

Symptoms & Phenotypes for Chromosome 17q12 Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

53
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 Eyes:
microphthalmia (rare)
glaucoma (rare)
deep-set eyes (rare)
downslanting palpebral fissures (rare)
peters anomaly (rare)

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

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

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
3 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
4 self-injurious behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0100716
5 delayed speech and language development 55 31 occasional (7.5%) Occasional (29-5%) HP:0000750
6 abnormal vertebral morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0003468
7 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
8 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
9 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
10 deeply set eye 55 31 occasional (7.5%) Occasional (29-5%) HP:0000490
11 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
12 polyhydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001561
13 tracheoesophageal fistula 55 31 occasional (7.5%) Occasional (29-5%) HP:0002575
14 toe syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001770
15 synophrys 55 31 occasional (7.5%) Occasional (29-5%) HP:0000664
16 language impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002463
17 cortical dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0002539
18 smooth philtrum 31 occasional (7.5%) HP:0000319
19 broad thumb 31 occasional (7.5%) HP:0011304
20 micrognathia 31 occasional (7.5%) HP:0000347
21 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
22 brachydactyly 31 occasional (7.5%) HP:0001156
23 triangular face 31 occasional (7.5%) HP:0000325
24 esophageal atresia 31 occasional (7.5%) HP:0002032
25 peters anomaly 31 occasional (7.5%) HP:0000659
26 facial hypotonia 31 occasional (7.5%) HP:0000297
27 muscular hypotonia of the trunk 31 occasional (7.5%) HP:0008936
28 cleft soft palate 31 occasional (7.5%) HP:0000185

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:

# Genetic test Affiliating Genes
1 Chromosome 17q12 Duplication Syndrome 28

Anatomical Context for Chromosome 17q12 Duplication Syndrome

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

38
Eye, Tongue

Publications for Chromosome 17q12 Duplication Syndrome

Variations for Chromosome 17q12 Duplication Syndrome

ClinVar genetic disease variations for Chromosome 17q12 Duplication Syndrome:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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