MCID: CHR502
MIFTS: 21

Chromosome 17q12 Duplication Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 17q12 Duplication Syndrome

MalaCards integrated aliases for Chromosome 17q12 Duplication Syndrome:

Name: Chromosome 17q12 Duplication Syndrome 58 12 30 13 6 74
17q12 Microduplication Syndrome 12 60
Trisomy 17q12 12 60
Dup(17)(q12) 60

Characteristics:

Orphanet epidemiological data:

60
17q12 microduplication syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene duplication syndrome


HPO:

33
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. An important gene associated with Chromosome 17q12 Duplication Syndrome is DUP17Q12 (Chromosome 17q12 Duplication Syndrome). Affiliated tissues include eye and tongue, and related phenotypes are cortical dysplasia and finger syndactyly

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 11.6

Symptoms & Phenotypes for Chromosome 17q12 Duplication Syndrome

Human phenotypes related to Chromosome 17q12 Duplication Syndrome:

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cortical dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002539
2 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
3 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
4 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
5 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
6 delayed speech and language development 60 33 occasional (7.5%) Occasional (29-5%) HP:0000750
7 abnormal vertebral morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0003468
8 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
9 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
10 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
11 deeply set eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0000490
12 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
13 polyhydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001561
14 tracheoesophageal fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0002575
15 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
16 synophrys 60 33 occasional (7.5%) Occasional (29-5%) HP:0000664
17 language impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002463
18 smooth philtrum 33 occasional (7.5%) HP:0000319
19 broad thumb 33 occasional (7.5%) HP:0011304
20 micrognathia 33 occasional (7.5%) HP:0000347
21 downslanted palpebral fissures 33 occasional (7.5%) HP:0000494
22 brachydactyly 33 occasional (7.5%) HP:0001156
23 triangular face 33 occasional (7.5%) HP:0000325
24 esophageal atresia 33 occasional (7.5%) HP:0002032
25 muscular hypotonia of the trunk 33 occasional (7.5%) HP:0008936
26 peters anomaly 33 occasional (7.5%) HP:0000659
27 facial hypotonia 33 occasional (7.5%) HP:0000297
28 cleft soft palate 33 occasional (7.5%) HP:0000185

Symptoms via clinical synopsis from OMIM:

58
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 Gastrointestinal:
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

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 30

Anatomical Context for Chromosome 17q12 Duplication Syndrome

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

42
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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