MCID: SYN012
MIFTS: 39

Synpolydactyly

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

Aliases & Classifications for Synpolydactyly

MalaCards integrated aliases for Synpolydactyly:

Name: Synpolydactyly 12 50 56 52 14
Syndactyly Type 2 12 50 56
Syndactyly, Type 2 42 69
Synpolydactyly 1 24 69
Syndactyly, Type Ii 24
Polysyndactyly 24
Spd1 24
Spd 50

Characteristics:

Orphanet epidemiological data:

56
syndactyly type 2
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060242
MeSH 42 C538153
NCIt 47 C75003
Orphanet 56 ORPHA93403
MESH via Orphanet 43 C538153
UMLS via Orphanet 70 C2699746
ICD10 via Orphanet 34 Q70.0 Q70.2
UMLS 69 C2699746

Summaries for Synpolydactyly

Disease Ontology : 12 A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene.

MalaCards based summary : Synpolydactyly, also known as syndactyly type 2, is related to synpolydactyly 1 and congenital heart defects, hamartomas of tongue, and polysyndactyly, and has symptoms including sandal gap, mesoaxial polydactyly and 2-3 toe syndactyly. An important gene associated with Synpolydactyly is HOXD13 (Homeobox D13). The drugs Pembrolizumab and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are mortality/aging and limbs/digits/tail

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on syndactyly.

Wikipedia : 72 Synpolydactyly is a joint presentation of syndactyly (fusion of digits) and polydactyly (production of... more...

Related Diseases for Synpolydactyly

Diseases in the Synpolydactyly family:

Synpolydactyly 1 Synpolydactyly 3

Diseases related to Synpolydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
id Related Disease Score Top Affiliating Genes
1 synpolydactyly 1 12.3
2 congenital heart defects, hamartomas of tongue, and polysyndactyly 12.0
3 polysyndactyly with cardiac malformation 12.0
4 polysyndactyly, crossed 11.9
5 synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 11.9
6 synpolydactyly 3 11.9
7 polysyndactyly, unilateral 11.8
8 polysyndactyly, bilateral 11.8
9 hallux varus and preaxial polysyndactyly 11.7
10 heart defect, tongue hamartoma and polysyndactyly 11.7
11 polysyndactyly trigonocephaly agenesis of corpus callosum 11.7
12 short ribs craniosynostosis polysyndactyly 11.7
13 curry-jones syndrome, somatic mosaic 11.6
14 syndactyly, type iv 11.6
15 polydactyly, preaxial type ii 11.5
16 acrofrontofacionasal dysostosis 2 11.4
17 polydactyly, preaxial, type iv 11.3
18 laurin-sandrow syndrome 11.2
19 tibial hemimelia 11.1
20 acrocallosal syndrome 11.1
21 carpenter syndrome 2 10.9
22 jawad syndrome 10.8
23 greig cephalopolysyndactyly syndrome 10.8
24 acrofrontofacionasal dysostosis 10.8
25 short-rib thoracic dysplasia 7 with or without polydactyly 10.8
26 barnicoat baraitser syndrome 10.7
27 hirschsprung disease polydactyly heart disease 10.7
28 kleiner holmes syndrome 10.7
29 laurence prosser rocker syndrome 10.7
30 orstavik lindemann solberg syndrome 10.7
31 piepkorn karp hickok syndrome 10.7
32 triphalangeal thumb 10.2
33 nephrotic syndrome 10.0 HOXD10 HOXD13
34 myelodysplasia and leukemia syndrome with monosomy 7 9.9 HOXD10 HOXD13
35 polydactyly 9.9
36 craniosynostosis 9.9
37 omphalocele 9.8
38 hypospadias 9.8
39 ellis-van creveld syndrome 9.8
40 scoliosis 9.8
41 cardiomyopathy, familial hypertrophic, 9 9.8 EVX2 HOXD13
42 sclerocornea 9.7
43 fibular hemimelia 9.7
44 synostosis 9.7
45 carpenter syndrome 9.7
46 pallister-hall syndrome 9.7
47 ectodermal dysplasia 9.7
48 brachydactyly-syndactyly syndrome 9.4 HOXD10 HOXD11 HOXD13
49 duane retraction syndrome 2 9.4 HOXD10 HOXD11 HOXD13
50 specific language impairment 6.9 EVX2 FBLN1 HOXD10 HOXD11 HOXD13 HOXD@

Graphical network of the top 20 diseases related to Synpolydactyly:



Diseases related to Synpolydactyly

Symptoms & Phenotypes for Synpolydactyly

Human phenotypes related to Synpolydactyly:

56 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sandal gap 56 Occasional (29-5%)
2 mesoaxial polydactyly 56 Occasional (29-5%)
3 2-3 toe syndactyly 56 Very frequent (99-80%)
4 short palm 56 Frequent (79-30%)
5 short foot 56 Frequent (79-30%)
6 clinodactyly of the 5th finger 56 Frequent (79-30%)
7 abnormality of the metacarpal bones 56 Frequent (79-30%)
8 camptodactyly of finger 56 Frequent (79-30%)
9 symphalangism affecting the phalanges of the hand 56 Frequent (79-30%)
10 postaxial foot polydactyly 56 Frequent (79-30%)
11 preaxial foot polydactyly 56 Occasional (29-5%)
12 3-4 finger syndactyly 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Synpolydactyly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.8 EVX2 FBLN1 HOXD10 HOXD11 HOXD13 RASSF8
2 limbs/digits/tail MP:0005371 9.72 EVX2 FBLN1 HOXD10 HOXD11 HOXD13
3 renal/urinary system MP:0005367 9.46 FBLN1 HOXD10 HOXD11 HOXD13
4 reproductive system MP:0005389 9.35 HOXD11 HOXD13 RASSF8 EVX2 HOXD10
5 skeleton MP:0005390 9.02 EVX2 FBLN1 HOXD10 HOXD11 HOXD13

Drugs & Therapeutics for Synpolydactyly

Drugs for Synpolydactyly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved 1374853-91-4
2
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
3
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
4 Bone Density Conservation Agents
5 Ergocalciferols
6 Micronutrients
7 Trace Elements
8 Vitamins
9 Calciferol Nutraceutical
10 Vitamin D2 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Co-stimulatory Markers and Vitamin D Status in Anti-PD1 Treated Melanoma Patients Enrolling by invitation NCT03197636 Pembrolizumab

Search NIH Clinical Center for Synpolydactyly

Cochrane evidence based reviews: syndactyly, type 2

Genetic Tests for Synpolydactyly

Genetic tests related to Synpolydactyly:

id Genetic test Affiliating Genes
1 Syndactyly, Type Ii 24 HOXD13

Anatomical Context for Synpolydactyly

MalaCards organs/tissues related to Synpolydactyly:

39
Bone

Publications for Synpolydactyly

Articles related to Synpolydactyly:

(show top 50) (show all 54)
id Title Authors Year
1
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation. ( 28794915 )
2017
2
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly. ( 27254532 )
2016
3
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. ( 26581570 )
2015
4
Familial pseudotail, scoliosis and synpolydactyly syndrome. ( 26525682 )
2015
5
[Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly]. ( 26252089 )
2015
6
Synpolydactyly of the hand: a radiographic classification. ( 26269507 )
2015
7
Functional classification and mutation analysis of a synpolydactyly kindred. ( 25289061 )
2014
8
A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning. ( 24055421 )
2013
9
Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome. ( 23278251 )
2013
10
Metatarsal transfer for the treatment of post-axial metatarsal-type foot synpolydactyly: a new technique that allows for comfortable shoe wearing. ( 23814245 )
2013
11
A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family. ( 23948678 )
2013
12
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft. ( 22473151 )
2012
13
Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly. ( 22406499 )
2012
14
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning. ( 22373878 )
2012
15
Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly. ( 25759628 )
2012
16
A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family. ( 22374128 )
2012
17
A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. ( 21814222 )
2011
18
[Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis]. ( 22161087 )
2011
19
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. ( 22267994 )
2011
20
Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly. ( 20974300 )
2011
21
Plastic repair for a case with synpolydactyly. ( 21184235 )
2011
22
Prevention of web creep using a new frame after synpolydactyly surgery. ( 21540735 )
2011
23
Type II familial synpolydactyly: report on two families with an emphasis on variations of expression. ( 20717165 )
2011
24
Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly. ( 19686284 )
2009
25
A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype. ( 19060004 )
2009
26
Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly. ( 19546318 )
2009
27
Synpolydactyly: clinical and molecular advances. ( 18177473 )
2008
28
Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice. ( 18729207 )
2008
29
Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. ( 17656229 )
2007
30
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences. ( 18072967 )
2007
31
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. ( 16712704 )
2006
32
Expression of familial middle-ring-little finger syndactyly as either simple syndactyly or synpolydactyly. ( 16139401 )
2006
33
[HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family]. ( 15696469 )
2005
34
Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly. ( 15952114 )
2005
35
[Genetic analysis of a Chinese pedigree with congenital synpolydactyly]. ( 14669516 )
2003
36
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. ( 11850178 )
2002
37
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. ( 11778160 )
2002
38
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. ( 11836357 )
2002
39
The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes. ( 11543619 )
2001
40
Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint. ( 10951517 )
2000
41
A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. ( 9580668 )
1998
42
Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly. ( 9730609 )
1998
43
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. ( 9207113 )
1997
44
Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. ( 9005557 )
1997
45
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. ( 8614804 )
1996
46
Synpolydactyly in mice with a targeted deficiency in the HoxD complex. ( 8900279 )
1996
47
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. ( 8817328 )
1996
48
Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. ( 7581388 )
1995
49
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. ( 7666393 )
1995
50
Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations. ( 7717427 )
1995

Variations for Synpolydactyly

ClinVar genetic disease variations for Synpolydactyly:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13) NT expansion Pathogenic rs193922939 GRCh37 Chromosome 2, 176957787: 176957789
2 HOXD13 NM_000523.3(HOXD13): c.323_336delCAGCACCCACGCCT (p.Pro108Argfs) deletion Pathogenic rs878854343 GRCh37 Chromosome 2, 176957941: 176957954
3 HOXD13 NM_000523.3(HOXD13): c.834delG (p.Lys279Argfs) deletion Pathogenic rs878854344 GRCh37 Chromosome 2, 176959260: 176959260
4 HOXD13 NM_000523.3(HOXD13): c.782-2delA deletion Pathogenic rs764838478 GRCh37 Chromosome 2, 176959206: 176959206
5 HOXD13 NM_000523.3(HOXD13): c.916C> T (p.Arg306Trp) single nucleotide variant Pathogenic rs28933082 GRCh37 Chromosome 2, 176959342: 176959342
6 HOXD13 NM_000523.3(HOXD13): c.683G> T (p.Gly228Val) single nucleotide variant Pathogenic rs121912541 GRCh37 Chromosome 2, 176958301: 176958301
7 HOXD13 NM_000523.3(HOXD13): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic rs878854400 GRCh37 Chromosome 2, 176958360: 176958360
8 HOXD13 NM_000523.3(HOXD13): c.917G> A (p.Arg306Gln) single nucleotide variant Pathogenic rs879255265 GRCh38 Chromosome 2, 176094615: 176094615
9 HOXD13 NM_000523.3(HOXD13): c.781+1G> A single nucleotide variant Pathogenic rs886037831 GRCh37 Chromosome 2, 176958400: 176958400
10 HOXD13 NM_000523.3(HOXD13): c.683G> C (p.Gly228Ala) single nucleotide variant Pathogenic rs121912541 GRCh37 Chromosome 2, 176958301: 176958301
11 HOXD13 NM_000523.3(HOXD13): c.916C> G (p.Arg306Gly) single nucleotide variant Pathogenic rs28933082 GRCh38 Chromosome 2, 176094614: 176094614

Expression for Synpolydactyly

Search GEO for disease gene expression data for Synpolydactyly.

Pathways for Synpolydactyly

GO Terms for Synpolydactyly

Biological processes related to Synpolydactyly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.46 EVX2 HOXD10 HOXD11 HOXD13
2 anterior/posterior pattern specification GO:0009952 9.26 HOXD10 HOXD13
3 embryonic limb morphogenesis GO:0030326 8.96 HOXD10 HOXD13
4 limb morphogenesis GO:0035108 8.62 EVX2 HOXD13

Molecular functions related to Synpolydactyly according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.92 EVX2 HOXD10 HOXD11 HOXD13

Sources for Synpolydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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