MCID: SYN059
MIFTS: 35

Syndactyly, Type V

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Syndactyly, Type V

MalaCards integrated aliases for Syndactyly, Type V:

Name: Syndactyly, Type V 57 29 13 6 73
Syndactyly Type 5 76 53 59
Syndactyly with Metacarpal and Metatarsal Fusion 57 75
Sdty5 57 75
Syndactyly with Associated Metacarpal and Metatarsal Fusion 53
Postaxial Syndactyly with Metacarpal Synostosis 59
Syndactyly Type V 75
Syndactyly 5 75
Sd5 59

Characteristics:

Orphanet epidemiological data:

59
syndactyly type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
syndactyly, type v:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 186300
Orphanet 59 ORPHA93406
MESH via Orphanet 45 C538155
UMLS via Orphanet 74 C1861348
ICD10 via Orphanet 34 Q70.0 Q70.2
MedGen 42 C1861348
MeSH 44 D013576
ICD10 33 Q70.9
UMLS 73 C1861348

Summaries for Syndactyly, Type V

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93406Disease definitionSyndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.EpidemiologySo far, less than ten reports have been described in the literature.Clinical descriptionSoft tissue syndactyly (involving the 3rd and 4th fingers and the 2nd and 3rd toes) may be present.EtiologyThe locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative.Genetic counselingThe condition is inherited as an autosomal dominanttrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Syndactyly, Type V, also known as syndactyly type 5, is related to brachydactyly-syndactyly syndrome and clubfoot. An important gene associated with Syndactyly, Type V is HOXD13 (Homeobox D13). Affiliated tissues include bone, and related phenotypes are metatarsal synostosis and clinodactyly of the 5th finger

UniProtKB/Swiss-Prot : 75 Syndactyly 5: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. The characteristic finding in SDTY5 is the presence of an associated metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes.

Wikipedia : 76 Syndactyly (from Greek συν- meaning \"together\" and δακτυλος meaning \"finger\") is a condition wherein... more...

Description from OMIM: 186300

Related Diseases for Syndactyly, Type V

Diseases in the Syndactyly, Type V family:

Syndactyly, Type Iii Syndactyly, Type Iv
Syndactyly Type 6

Diseases related to Syndactyly, Type V via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly-syndactyly syndrome 25.2 EPHA7 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
2 clubfoot 9.8 HOXD10 HOXD13
3 brachydactyly 9.8
4 chromosome 2q35 duplication syndrome 9.5 HOXD11 HOXD13
5 synpolydactyly 9.3 HOXD10 HOXD11 HOXD13

Graphical network of the top 20 diseases related to Syndactyly, Type V:



Diseases related to Syndactyly, Type V

Symptoms & Phenotypes for Syndactyly, Type V

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
brachydactyly
camptodactyly
absent distal interphalangeal creases
distal phalangeal hypoplasia
enlarged proximal interphalangeal joints
more
Skeletal Feet:
partial soft tissue syndactyly
2-3 or 4-5 toe syndactyly


Clinical features from OMIM:

186300

Human phenotypes related to Syndactyly, Type V:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 metatarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001440
2 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
3 2-3 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0004691
4 3-4 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006097
5 ulnar deviation of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009465
6 metacarpal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0009701
7 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
8 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
9 absent distal interphalangeal creases 32 HP:0001032
10 brachydactyly 32 HP:0001156
11 4-5 toe syndactyly 32 HP:0004692
12 fused fourth and fifth metacarpals 32 HP:0005867
13 enlarged proximal interphalangeal joints 32 HP:0006185
14 joint contracture of the hand 32 HP:0009473
15 carpal synostosis 32 HP:0009702
16 3-4 toe syndactyly 32 HP:0009779
17 cutaneous finger syndactyly 32 HP:0010554

MGI Mouse Phenotypes related to Syndactyly, Type V:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.72 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
2 muscle MP:0005369 9.56 HOXD10 HOXD12 HOXD13 HOXD9
3 renal/urinary system MP:0005367 9.46 HOXD10 HOXD11 HOXD13 HOXD9
4 reproductive system MP:0005389 9.35 HOXD11 HOXD12 HOXD13 HOXD9 HOXD10
5 skeleton MP:0005390 9.02 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9

Drugs & Therapeutics for Syndactyly, Type V

Search Clinical Trials , NIH Clinical Center for Syndactyly, Type V

Genetic Tests for Syndactyly, Type V

Genetic tests related to Syndactyly, Type V:

# Genetic test Affiliating Genes
1 Syndactyly, Type V 29 HOXD13

Anatomical Context for Syndactyly, Type V

MalaCards organs/tissues related to Syndactyly, Type V:

41
Bone

Publications for Syndactyly, Type V

Articles related to Syndactyly, Type V:

# Title Authors Year
1
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. ( 17236141 )
2007
2
Syndactyly type V. ( 6283889 )
1982

Variations for Syndactyly, Type V

UniProtKB/Swiss-Prot genetic disease variations for Syndactyly, Type V:

75
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Gln325Arg VAR_031652 rs104893635

ClinVar genetic disease variations for Syndactyly, Type V:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13): c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAla) insertion Pathogenic rs878854345 GRCh37 Chromosome 2, 176957827: 176957828
2 HOXD13 NM_000523.3(HOXD13): c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAla) insertion Pathogenic rs878854345 GRCh38 Chromosome 2, 176093099: 176093100
3 HOXD13 NM_000523.3(HOXD13): c.974A> G (p.Gln325Arg) single nucleotide variant Pathogenic rs104893635 GRCh37 Chromosome 2, 176959400: 176959400
4 HOXD13 NM_000523.3(HOXD13): c.974A> G (p.Gln325Arg) single nucleotide variant Pathogenic rs104893635 GRCh38 Chromosome 2, 176094672: 176094672

Expression for Syndactyly, Type V

Search GEO for disease gene expression data for Syndactyly, Type V.

Pathways for Syndactyly, Type V

GO Terms for Syndactyly, Type V

Biological processes related to Syndactyly, Type V according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.89 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
2 transcription, DNA-templated GO:0006351 9.83 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
3 single fertilization GO:0007338 9.56 HOXD10 HOXD9
4 embryonic digit morphogenesis GO:0042733 9.55 HOXD12 HOXD13
5 embryonic limb morphogenesis GO:0030326 9.54 HOXD10 HOXD13
6 skeletal system development GO:0001501 9.54 HOXD10 HOXD12 HOXD13
7 pattern specification process GO:0007389 9.52 HOXD12 HOXD13
8 adult locomotory behavior GO:0008344 9.51 HOXD10 HOXD9
9 skeletal muscle tissue development GO:0007519 9.48 HOXD10 HOXD9
10 embryonic skeletal system morphogenesis GO:0048704 9.46 HOXD10 HOXD9
11 proximal/distal pattern formation GO:0009954 9.4 HOXD10 HOXD9
12 forelimb morphogenesis GO:0035136 9.32 HOXD10 HOXD9
13 hindlimb morphogenesis GO:0035137 9.26 HOXD10 HOXD9
14 peripheral nervous system neuron development GO:0048935 9.16 HOXD10 HOXD9
15 anterior/posterior pattern specification GO:0009952 9.13 HOXD10 HOXD13 HOXD9
16 multicellular organism development GO:0007275 9.1 EPHA7 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9

Molecular functions related to Syndactyly, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.55 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.35 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.26 HOXD10 HOXD13
4 sequence-specific DNA binding GO:0043565 9.02 HOXD10 HOXD11 HOXD12 HOXD13 HOXD9

Sources for Syndactyly, Type V

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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