SPD
MCID: SYN012
MIFTS: 38

Synpolydactyly (SPD)

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

Aliases & Classifications for Synpolydactyly

MalaCards integrated aliases for Synpolydactyly:

Name: Synpolydactyly 12 76 53 59 37 55 15
Syndactyly Type 2 12 76 53 59
Syndactyly, Type 2 44 73
Spd 53

Characteristics:

Orphanet epidemiological data:

59
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 44 C538153
Orphanet 59 ORPHA93403
ICD10 via Orphanet 34 Q70.0 Q70.2
MESH via Orphanet 45 C538153
UMLS via Orphanet 74 C2699746
KEGG 37 H00459
UMLS 73 C2699746

Summaries for Synpolydactyly

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93403Disease definitionSyndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly.EpidemiologyThe prevalence is unknown.Clinical descriptionIn most cases, SPD affects the 3rd and 4th fingers and the 4th and 5th toes, bilaterally. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.EtiologyThree loci have been identified: SPD1(HOXD13 gene, 2q31 locus), SPD2 (FBLN1 gene; 22q13.31) and SPD3 (14q11.2-q12).Genetic counselingSPD is inherited in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Synpolydactyly, also known as syndactyly type 2, is related to synpolydactyly 1 and synpolydactyly 2. 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 short palm and short foot

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

Wikipedia : 76 Syndactyly (from Greek �?ύν meaning "together" and δάκ�?�?λο�? meaning "finger") is a condition wherein... more...

Related Diseases for Synpolydactyly

Graphical network of the top 20 diseases related to Synpolydactyly:



Diseases related to Synpolydactyly

Symptoms & Phenotypes for Synpolydactyly

Human phenotypes related to Synpolydactyly:

59 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short palm 59 Frequent (79-30%)
2 short foot 59 Frequent (79-30%)
3 clinodactyly of the 5th finger 59 Frequent (79-30%)
4 abnormality of the metacarpal bones 59 Frequent (79-30%)
5 sandal gap 59 Occasional (29-5%)
6 camptodactyly of finger 59 Frequent (79-30%)
7 symphalangism affecting the phalanges of the hand 59 Frequent (79-30%)
8 postaxial foot polydactyly 59 Frequent (79-30%)
9 2-3 toe syndactyly 59 Very frequent (99-80%)
10 preaxial foot polydactyly 59 Occasional (29-5%)
11 mesoaxial polydactyly 59 Occasional (29-5%)
12 3-4 finger syndactyly 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Synpolydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.91 EVX2 FBLN1 GLI3 HOXA13 HOXD10 HOXD11
2 limbs/digits/tail MP:0005371 9.87 EVX2 FBLN1 GLI3 HOXA13 HOXD10 HOXD11
3 renal/urinary system MP:0005367 9.63 FBLN1 GLI3 HOXA13 HOXD10 HOXD11 HOXD13
4 reproductive system MP:0005389 9.5 EVX2 GLI3 HOXA13 HOXD10 HOXD11 HOXD13
5 skeleton MP:0005390 9.17 EVX2 FBLN1 GLI3 HOXA13 HOXD10 HOXD11

Drugs & Therapeutics for Synpolydactyly

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

(show all 10)
# 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 Calciferol
5 Ergocalciferols
6 Trace Elements
7 Bone Density Conservation Agents
8 Vitamin D2
9 Micronutrients
10 Vitamins

Interventional clinical trials:


# 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

Anatomical Context for Synpolydactyly

MalaCards organs/tissues related to Synpolydactyly:

41
Bone

Publications for Synpolydactyly

Articles related to Synpolydactyly:

(show top 50) (show all 65)
# Title Authors Year
1
Classification of synpolydactyly: experience in 10 children. ( 29022776 )
2018
2
Homozygous <i>CHST11</i> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly. ( 29514872 )
2018
3
Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation. ( 28794915 )
2017
4
[A novel mutation of GLI3 gene underlying synpolydactyly in a family]. ( 28777844 )
2017
5
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly. ( 27254532 )
2016
6
[Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly]. ( 26252089 )
2015
7
Familial pseudotail, scoliosis and synpolydactyly syndrome. ( 26525682 )
2015
8
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. ( 26581570 )
2015
9
Synpolydactyly of the hand: a radiographic classification. ( 26269507 )
2015
10
Functional classification and mutation analysis of a synpolydactyly kindred. ( 25289061 )
2014
11
A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning. ( 24055421 )
2013
12
Metatarsal transfer for the treatment of post-axial metatarsal-type foot synpolydactyly: a new technique that allows for comfortable shoe wearing. ( 23814245 )
2013
13
A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family. ( 23948678 )
2013
14
Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome. ( 23278251 )
2013
15
Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly. ( 22406499 )
2012
16
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning. ( 22373878 )
2012
17
Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly. ( 25759628 )
2012
18
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft. ( 22473151 )
2012
19
A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family. ( 22374128 )
2012
20
[Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis]. ( 22161087 )
2011
21
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. ( 22267994 )
2011
22
Plastic repair for a case with synpolydactyly. ( 21184235 )
2011
23
Prevention of web creep using a new frame after synpolydactyly surgery. ( 21540735 )
2011
24
Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly. ( 20974300 )
2011
25
Type II familial synpolydactyly: report on two families with an emphasis on variations of expression. ( 20717165 )
2011
26
A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. ( 21814222 )
2011
27
A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype. ( 19060004 )
2009
28
Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly. ( 19686284 )
2009
29
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
30
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. ( 19075394 )
2009
31
Synpolydactyly: clinical and molecular advances. ( 18177473 )
2008
32
Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice. ( 18729207 )
2008
33
Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. ( 17656229 )
2007
34
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences. ( 18072967 )
2007
35
Expression of familial middle-ring-little finger syndactyly as either simple syndactyly or synpolydactyly. ( 16139401 )
2006
36
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. ( 16712704 )
2006
37
Synpolydactyly of the foot in homozygotes. ( 16868322 )
2006
38
Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly. ( 15952114 )
2005
39
[HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family]. ( 15696469 )
2005
40
Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly. ( 15947976 )
2005
41
Hypoplastic synpolydactyly as a new clinical subgroup of synpolydactyly. ( 15542226 )
2004
42
[Genetic analysis of a Chinese pedigree with congenital synpolydactyly]. ( 14669516 )
2003
43
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. ( 11850178 )
2002
44
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. ( 11836357 )
2002
45
HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. ( 12116248 )
2002
46
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
47
Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint. ( 10951517 )
2000
48
New type of synpolydactyly of hands and feet in two unrelated males. ( 10232741 )
1999
49
Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly. ( 9730609 )
1998
50
A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. ( 9580668 )
1998

Variations for Synpolydactyly

ClinVar genetic disease variations for Synpolydactyly:

6 (show all 26)
# 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) NT expansion Pathogenic rs193922939 GRCh38 Chromosome 2, 176093059: 176093061
3 HOXD13 NM_000523.3(HOXD13): c.323_336delCAGCACCCACGCCT (p.Pro108Argfs) deletion Pathogenic rs878854343 GRCh37 Chromosome 2, 176957941: 176957954
4 HOXD13 NM_000523.3(HOXD13): c.323_336delCAGCACCCACGCCT (p.Pro108Argfs) deletion Pathogenic rs878854343 GRCh38 Chromosome 2, 176093213: 176093226
5 HOXD13 NM_000523.3(HOXD13): c.834delG (p.Lys279Argfs) deletion Pathogenic rs878854344 GRCh37 Chromosome 2, 176959260: 176959260
6 HOXD13 NM_000523.3(HOXD13): c.834delG (p.Lys279Argfs) deletion Pathogenic rs878854344 GRCh38 Chromosome 2, 176094532: 176094532
7 HOXD13 NM_000523.3(HOXD13): c.782-2delA deletion Pathogenic rs764838478 GRCh37 Chromosome 2, 176959206: 176959206
8 HOXD13 NM_000523.3(HOXD13): c.782-2delA deletion Pathogenic rs764838478 GRCh38 Chromosome 2, 176094478: 176094478
9 HOXD13 NM_000523.3(HOXD13): c.916C> T (p.Arg306Trp) single nucleotide variant Pathogenic rs28933082 GRCh37 Chromosome 2, 176959342: 176959342
10 HOXD13 NM_000523.3(HOXD13): c.916C> T (p.Arg306Trp) single nucleotide variant Pathogenic rs28933082 GRCh38 Chromosome 2, 176094614: 176094614
11 HOXD13 NM_000523.3(HOXD13): c.683G> T (p.Gly228Val) single nucleotide variant Pathogenic rs121912541 GRCh37 Chromosome 2, 176958301: 176958301
12 HOXD13 NM_000523.3(HOXD13): c.683G> T (p.Gly228Val) single nucleotide variant Pathogenic rs121912541 GRCh38 Chromosome 2, 176093573: 176093573
13 HOXD13 NM_000523.3(HOXD13): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic rs878854400 GRCh37 Chromosome 2, 176958360: 176958360
14 HOXD13 NM_000523.3(HOXD13): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic rs878854400 GRCh38 Chromosome 2, 176093632: 176093632
15 HOXD13 NM_000523.3(HOXD13): c.32G> C (p.Gly11Ala) single nucleotide variant Uncertain significance rs536639583 GRCh37 Chromosome 2, 176957650: 176957650
16 HOXD13 NM_000523.3(HOXD13): c.32G> C (p.Gly11Ala) single nucleotide variant Uncertain significance rs536639583 GRCh38 Chromosome 2, 176092922: 176092922
17 HOXD13 NM_000523.3(HOXD13): c.917G> A (p.Arg306Gln) single nucleotide variant Pathogenic rs879255265 GRCh38 Chromosome 2, 176094615: 176094615
18 HOXD13 NM_000523.3(HOXD13): c.917G> A (p.Arg306Gln) single nucleotide variant Pathogenic rs879255265 GRCh37 Chromosome 2, 176959343: 176959343
19 HOXD13 NM_000523.3(HOXD13): c.781+1G> A single nucleotide variant Pathogenic rs886037831 GRCh37 Chromosome 2, 176958400: 176958400
20 HOXD13 NM_000523.3(HOXD13): c.781+1G> A single nucleotide variant Pathogenic rs886037831 GRCh38 Chromosome 2, 176093672: 176093672
21 HOXD13 NM_000523.3(HOXD13): c.683G> C (p.Gly228Ala) single nucleotide variant Pathogenic rs121912541 GRCh37 Chromosome 2, 176958301: 176958301
22 HOXD13 NM_000523.3(HOXD13): c.683G> C (p.Gly228Ala) single nucleotide variant Pathogenic rs121912541 GRCh38 Chromosome 2, 176093573: 176093573
23 HOXD13 NM_000523.3(HOXD13): c.916C> G (p.Arg306Gly) single nucleotide variant Pathogenic rs28933082 GRCh38 Chromosome 2, 176094614: 176094614
24 HOXD13 NM_000523.3(HOXD13): c.916C> G (p.Arg306Gly) single nucleotide variant Pathogenic rs28933082 GRCh37 Chromosome 2, 176959342: 176959342
25 CHST11 NM_001173982.1(CHST11): c.467_481del (p.Leu156_Asn160del) deletion Uncertain significance GRCh37 Chromosome 12, 105151004: 105151018
26 CHST11 NM_001173982.1(CHST11): c.467_481del (p.Leu156_Asn160del) deletion Uncertain significance GRCh38 Chromosome 12, 104757226: 104757240

Expression for Synpolydactyly

Search GEO for disease gene expression data for Synpolydactyly.

Pathways for Synpolydactyly

GO Terms for Synpolydactyly

Cellular components related to Synpolydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional repressor complex GO:0017053 8.62 GLI3 RBBP8

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.83 EVX2 HOXA13 HOXD10 HOXD11 HOXD13
2 regulation of transcription, DNA-templated GO:0006355 9.73 EVX2 GLI3 HOXA13 HOXD10 HOXD11 HOXD13
3 skeletal system development GO:0001501 9.54 HOXA13 HOXD10 HOXD13
4 pattern specification process GO:0007389 9.52 GLI3 HOXD13
5 embryonic digit morphogenesis GO:0042733 9.51 GLI3 HOXD13
6 embryonic skeletal system morphogenesis GO:0048704 9.49 GLI3 HOXD10
7 branching involved in ureteric bud morphogenesis GO:0001658 9.48 GLI3 HOXD11
8 dorsal/ventral pattern formation GO:0009953 9.46 GLI3 HOXD11
9 proximal/distal pattern formation GO:0009954 9.4 GLI3 HOXD10
10 anterior/posterior pattern specification GO:0009952 9.33 GLI3 HOXD10 HOXD13
11 prostate gland development GO:0030850 9.32 GLI3 HOXD13
12 embryonic limb morphogenesis GO:0030326 9.13 GLI3 HOXD10 HOXD13
13 limb morphogenesis GO:0035108 8.8 EVX2 GLI3 HOXD13

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 EVX2 GLI3 HOXA13 HOXD10 HOXD11 HOXD13
2 DNA binding GO:0003677 9.5 EVX2 GLI3 HOXA13 HOXD10 HOXD11 HOXD13
3 sequence-specific DNA binding GO:0043565 9.1 EVX2 GLI3 HOXA13 HOXD10 HOXD11 HOXD13

Sources for Synpolydactyly

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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