SHFLD3
MCID: CHR663
MIFTS: 14

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 58 76 6
Split-Hand/foot Malformation with Long Bone Deficiency 3 58 76 13
Shfld3 58 76
Split-Hand/foot Malformation with Long Bone Deficiency 3; Shfld3 58
Split-Hand-Foot Malformation with Long Bone Deficiency 3 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
chromosome 17p13.3, telomeric, duplication syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612576
MeSH 45 D017880
MedGen 43 C2675492
UMLS 74 C2675492

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

UniProtKB/Swiss-Prot : 76 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 talipes equinovarus and brachydactyly

Description from OMIM: 612576

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

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

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

33
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 33 HP:0001762
2 brachydactyly 33 HP:0001156
3 split hand 33 HP:0001171
4 oligodactyly 33 HP:0012165

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Bone

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

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 117 genes:PAFAH1B1 GRCh37/hg19 17p13.3-13.2(chr17: 47546-6287620) copy number gain Pathogenic GRCh37 Chromosome 17, 47546: 6287620
2 ABR; BHLHA9; TRARG1; YWHAE GRCh37/hg19 17p13.3(chr17: 1084016-1278527) copy number gain Pathogenic GRCh37 Chromosome 17, 1084016: 1278527

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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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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