MCID: CHR363
MIFTS: 18

Chromosome 17q23.1-Q23.2 Duplication Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases, Genetic 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 57 29 13 73
Hereditary Clubfoot Due to 17q23.1-Q23.2 Microduplication 59
Familial Clubfoot Due to 17q23.1q23.2 Microduplication 59

Characteristics:

Orphanet epidemiological data:

59
familial clubfoot due to 17q23.1q23.2 microduplication
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
contiguous gene duplication syndrome


HPO:

32
chromosome 17q23.1-q23.2 duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613618
Orphanet 59 ORPHA238578
ICD10 via Orphanet 34 Q66.8
MedGen 42 C3150880
UMLS 73 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 hip dysplasia and talipes equinovarus

Description from OMIM: 613618

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
2 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
3 hypoplastic toenails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001800
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 small nail 32 HP:0001792
6 coxa valga 32 HP:0002673
7 genu valgum 32 HP:0002857
8 acetabular dysplasia 32 HP:0008807

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:

41
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 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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