MCID: CHR363
MIFTS: 17

Chromosome 17q23.1-Q23.2 Duplication Syndrome

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 17q23.1-Q23.2 Duplication Syndrome

MalaCards integrated aliases for Chromosome 17q23.1-Q23.2 Duplication Syndrome:

Name: Chromosome 17q23.1-Q23.2 Duplication Syndrome 56 29 13 71
Hereditary Clubfoot Due to 17q23.1-Q23.2 Microduplication 58
Familial Clubfoot Due to 17q23.1q23.2 Microduplication 58

Characteristics:

Orphanet epidemiological data:

58
familial clubfoot due to 17q23.1q23.2 microduplication
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene duplication syndrome


HPO:

31
chromosome 17q23.1-q23.2 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 613618
ICD10 via Orphanet 33 Q66.8
Orphanet 58 ORPHA238578
MedGen 41 C3150880
UMLS 71 C3150880

Summaries for Chromosome 17q23.1-Q23.2 Duplication Syndrome

MalaCards based summary : Chromosome 17q23.1-Q23.2 Duplication Syndrome, is also known as hereditary clubfoot due to 17q23.1-q23.2 microduplication. An important gene associated with Chromosome 17q23.1-Q23.2 Duplication Syndrome is DUP17Q23.1Q23.2 (Chromosome 17q23.1-Q23.2 Duplication Syndrome). Affiliated tissues include bone, and related phenotypes are talipes equinovarus and short stature

More information from OMIM: 613618

Related Diseases for Chromosome 17q23.1-Q23.2 Duplication Syndrome

Symptoms & Phenotypes for Chromosome 17q23.1-Q23.2 Duplication Syndrome

Human phenotypes related to Chromosome 17q23.1-Q23.2 Duplication Syndrome:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
2 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
3 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
4 hypoplastic toenails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001800
5 genu valgum 31 HP:0002857
6 small nail 31 HP:0001792
7 coxa valga 31 HP:0002673
8 acetabular dysplasia 31 HP:0008807

Symptoms via clinical synopsis from OMIM:

56
Skeletal Pelvis:
genu valgum
hip dysplasia
coxa valga
acetabular dysplasia
infra-acetabular axe-cut notches
more
Skin Nails Hair Nails:
nail hypoplasia

Skeletal Feet:
talipes equinovarus
clubfoot
short and thickened first and/or second metatarsal
short calcaneus
hypoplastic distal tibial epiphysis
more
Skin Nails Hair Hair:
tufted distal phalanx of the first toe

Clinical features from OMIM:

613618

Drugs & Therapeutics for Chromosome 17q23.1-Q23.2 Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17q23.1-Q23.2 Duplication Syndrome

Genetic Tests for Chromosome 17q23.1-Q23.2 Duplication Syndrome

Genetic tests related to Chromosome 17q23.1-Q23.2 Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 17q23.1-Q23.2 Duplication Syndrome 29

Anatomical Context for Chromosome 17q23.1-Q23.2 Duplication Syndrome

MalaCards organs/tissues related to Chromosome 17q23.1-Q23.2 Duplication Syndrome:

40
Bone

Publications for Chromosome 17q23.1-Q23.2 Duplication Syndrome

Articles related to Chromosome 17q23.1-Q23.2 Duplication Syndrome:

# Title Authors PMID Year
1
Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. 56
20598276 2010

Variations for Chromosome 17q23.1-Q23.2 Duplication Syndrome

Expression for Chromosome 17q23.1-Q23.2 Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 17q23.1-Q23.2 Duplication Syndrome.

Pathways for Chromosome 17q23.1-Q23.2 Duplication Syndrome

GO Terms for Chromosome 17q23.1-Q23.2 Duplication Syndrome

Sources for Chromosome 17q23.1-Q23.2 Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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