SHFLD3
MCID: CHR663
MIFTS: 19

Chromosome 17p13.3, Telomeric, Duplication Syndrome (SHFLD3)

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 72 29 6
Split-Hand/foot Malformation with Long Bone Deficiency 3 57 72 13
Shfld3 57 72
Split-Hand/foot Malformation with Long Bone Deficiency 3; Shfld3 57
Split-Hand/foot Malformation with Long Bone Deficiency, Type 3 39
Split-Hand-Foot Malformation with Long Bone Deficiency 3 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
chromosome 17p13.3, telomeric, duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 612576
MeSH 44 D017880
MedGen 41 C2675492
UMLS 70 C2675492

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

UniProtKB/Swiss-Prot : 72 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, also known as split-hand/foot malformation with long bone deficiency 3, is related to split hand-foot malformation. 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 talipes equinovarus and brachydactyly

More information from OMIM: 612576

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

Diseases related to Chromosome 17p13.3, Telomeric, Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 split hand-foot malformation 11.0

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

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

31
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 31 HP:0001762
2 brachydactyly 31 HP:0001156
3 split hand 31 HP:0001171
4 oligodactyly 31 HP:0012165

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
brachydactyly
oligodactyly
ectrodactyly
monodactyly
syndactyly, third and fourth digits (in some patients)
more
Skeletal Limbs:
tibial aplasia and/or hypoplasia
distal femoral bifurcation (rare)

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

Clinical features from OMIM®:

612576 (Updated 05-Apr-2021)

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

Genetic tests related to Chromosome 17p13.3, Telomeric, Duplication Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 17p13.3, Telomeric, Duplication Syndrome 29

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

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

40
Bone

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

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

# Title Authors PMID Year
1
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. 57
22147889 2012
2
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD). 57
21629300 2011
3
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. 57
20452996 2010
4
A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. 57
18493797 2008
5
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. 57
15779011 2005
6
Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family. 57
3688036 1987
7
The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency. 61
31307755 2019
8
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. 61
28496997 2017
9
Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly. 61
24852374 2014
10
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. 61
23202277 2013

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

ClinVar genetic disease variations for Chromosome 17p13.3, Telomeric, Duplication Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 117 genes GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Pathogenic 625578 GRCh37: 17:47546-6287620
GRCh38:
2 overlap with 4 genes GRCh37/hg19 17p13.3(chr17:1084016-1278527) copy number gain Pathogenic 625580 GRCh37: 17:1084016-1278527
GRCh38:

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....