MCID: CHR502
MIFTS: 22

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 57 12 29 13 6 73
17q12 Microduplication Syndrome 12 59
Trisomy 17q12 12 59
Dup(17)(q12) 59

Characteristics:

Orphanet epidemiological data:

59
17q12 microduplication syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
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. 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 finger syndactyly and intellectual disability

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Chromosome 17q12 Duplication Syndrome:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
5 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
6 abnormal vertebral morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0003468
7 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
8 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
9 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
10 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
11 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
12 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
13 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
14 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
15 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
16 language impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002463
17 cortical dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002539
18 smooth philtrum 32 occasional (7.5%) HP:0000319
19 broad thumb 32 occasional (7.5%) HP:0011304
20 micrognathia 32 occasional (7.5%) HP:0000347
21 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
22 brachydactyly 32 occasional (7.5%) HP:0001156
23 triangular face 32 occasional (7.5%) HP:0000325
24 esophageal atresia 32 occasional (7.5%) HP:0002032
25 peters anomaly 32 occasional (7.5%) HP:0000659
26 facial hypotonia 32 occasional (7.5%) HP:0000297
27 muscular hypotonia of the trunk 32 occasional (7.5%) HP:0008936
28 cleft soft palate 32 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 29

Anatomical Context for Chromosome 17q12 Duplication Syndrome

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

41
Eye, Tongue

Publications for Chromosome 17q12 Duplication Syndrome

Variations for Chromosome 17q12 Duplication Syndrome

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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