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 58 30 13 74
Hereditary Clubfoot Due to 17q23.1-Q23.2 Microduplication 60
Familial Clubfoot Due to 17q23.1q23.2 Microduplication 60

Characteristics:

Orphanet epidemiological data:

60
familial clubfoot due to 17q23.1q23.2 microduplication
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene duplication syndrome


HPO:

33
chromosome 17q23.1-q23.2 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613618
ICD10 via Orphanet 35 Q66.8
Orphanet 60 ORPHA238578
MedGen 43 C3150880
UMLS 74 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

Description 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:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 talipes equinovarus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001762
2 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
3 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
4 hypoplastic toenails 60 33 occasional (7.5%) Occasional (29-5%) HP:0001800
5 genu valgum 33 HP:0002857
6 coxa valga 33 HP:0002673
7 small nail 33 HP:0001792
8 acetabular dysplasia 33 HP:0008807

Symptoms via clinical synopsis from OMIM:

58
Skeletal Pelvis:
genu valgum
hip dysplasia
coxa valga
acetabular dysplasia
tall, narrow ilium
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 30

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

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

42
Bone

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

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
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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