MCID: CHR663
MIFTS: 15

Chromosome 17p13.3, Telomeric, Duplication Syndrome

Categories: Bone diseases

Aliases & Classifications for Chromosome 17p13.3, Telomeric, Duplication Syndrome

MalaCards integrated aliases for Chromosome 17p13.3, Telomeric, Duplication Syndrome:

Name: Chromosome 17p13.3, Telomeric, Duplication Syndrome 57 75
Split-Hand/foot Malformation with Long Bone Deficiency 3 57 75 13
Shfld3 57 75
Split-Hand/foot Malformation with Long Bone Deficiency 3; Shfld3 57
Split-Hand-Foot Malformation with Long Bone Deficiency 3 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
marked phenotypic variability, even within an individual
less than 50% penetrance in some families
minimum duplication includes bhlha9


HPO:

32
chromosome 17p13.3, telomeric, duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612576
MedGen 42 C2675492
MeSH 44 D017880
UMLS 73 C2675492

Summaries for Chromosome 17p13.3, Telomeric, Duplication Syndrome

UniProtKB/Swiss-Prot : 75 Split-hand/foot malformation with long bone deficiency 3: A disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.

MalaCards based summary : Chromosome 17p13.3, Telomeric, Duplication Syndrome, is also known as split-hand/foot malformation with long bone deficiency 3. An important gene associated with Chromosome 17p13.3, Telomeric, Duplication Syndrome is SHFLD3 (Split-Hand/Foot Malformation With Long Bone Deficiency 3). Affiliated tissues include bone, and related phenotypes are brachydactyly and talipes equinovarus

Description from OMIM: 612576

Related Diseases for Chromosome 17p13.3, Telomeric, Duplication Syndrome

Symptoms & Phenotypes for Chromosome 17p13.3, Telomeric, Duplication Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
tibial aplasia and/or hypoplasia
distal femoral bifurcation (rare)

Skeletal Feet:
clubfoot
pes varus
toe hypoplasia or aplasia
absent halluces

Skeletal Hands:
ectrodactyly
monodactyly
oligodactyly
brachydactyly
syndactyly, third and fourth digits (in some patients)
more

Clinical features from OMIM:

612576

Human phenotypes related to Chromosome 17p13.3, Telomeric, Duplication Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 talipes equinovarus 32 HP:0001762
3 split hand 32 HP:0001171
4 oligodactyly 32 HP:0012165

Drugs & Therapeutics for Chromosome 17p13.3, Telomeric, Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 17p13.3, Telomeric, Duplication Syndrome

Genetic Tests for Chromosome 17p13.3, Telomeric, Duplication Syndrome

Anatomical Context for Chromosome 17p13.3, Telomeric, Duplication Syndrome

MalaCards organs/tissues related to Chromosome 17p13.3, Telomeric, Duplication Syndrome:

41
Bone

Publications for Chromosome 17p13.3, Telomeric, Duplication Syndrome

Variations for Chromosome 17p13.3, Telomeric, Duplication Syndrome

Expression for Chromosome 17p13.3, Telomeric, Duplication Syndrome

Search GEO for disease gene expression data for Chromosome 17p13.3, Telomeric, Duplication Syndrome.

Pathways for Chromosome 17p13.3, Telomeric, Duplication Syndrome

GO Terms for Chromosome 17p13.3, Telomeric, Duplication Syndrome

Sources for Chromosome 17p13.3, Telomeric, 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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