SPD
MCID: SYN012
MIFTS: 38

Synpolydactyly (SPD) malady

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

Aliases & Classifications for Synpolydactyly

Aliases & Descriptions for Synpolydactyly:

Name: Synpolydactyly 12 50 56 52 14
Syndactyly Type 2 12 50 56
Syndactyly, Type Ii 24 29
Syndactyly, Type 2 42 69
Synpolydactyly 1 24 69
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
ICD10 via Orphanet 34 Q70.0 Q70.2
MESH via Orphanet 43 C538153
UMLS via Orphanet 70 C2699746
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, type ii and congenital heart defects, hamartomas of tongue, and polysyndactyly, and has symptoms including short palm, short foot and clinodactyly of the 5th finger. An important gene associated with Synpolydactyly is HOXD13 (Homeobox D13). Affiliated tissues include bone, and related phenotypes are limbs/digits/tail and renal/urinary system

Wikipedia : 71 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, Type Ii Synpolydactyly 3

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

(show all 45)
id Related Disease Score Top Affiliating Genes
1 synpolydactyly, type ii 12.4
2 congenital heart defects, hamartomas of tongue, and polysyndactyly 12.1
3 craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development 12.1
4 synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 11.9
5 synpolydactyly 3 11.9
6 polysyndactyly, crossed 11.9
7 polysyndactyly, bilateral 11.8
8 polysyndactyly, unilateral 11.8
9 polysyndactyly with cardiac malformation 11.8
10 hallux varus and preaxial polysyndactyly 11.7
11 polysyndactyly trigonocephaly agenesis of corpus callosum 11.7
12 short ribs craniosynostosis polysyndactyly 11.7
13 heart defect, tongue hamartoma and polysyndactyly 11.7
14 syndactyly, type iv 11.6
15 polydactyly, preaxial type ii 11.5
16 spondyloperipheral dysplasia 11.5
17 polydactyly, preaxial, type iv 11.3
18 tibial hemimelia 11.1
19 laurin-sandrow syndrome 11.1
20 carpenter syndrome 2 10.9
21 isolated delta-storage pool disease 10.9
22 schizoid personality disorder 10.8
23 jawad syndrome 10.8
24 acrofrontofacionasal dysostosis 2 10.8
25 greig cephalopolysyndactyly syndrome 10.8
26 acrofrontofacionasal dysostosis 10.8
27 short-rib thoracic dysplasia 7 with or without polydactyly 10.8
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 barnicoat baraitser syndrome 10.7
33 hirschsprung disease polydactyly heart disease 10.7
34 syndactyly 10.3
35 triphalangeal thumb 10.2
36 nephrotic syndrome 10.0 HOXD10 HOXD13
37 nemaline myopathy 7, autosomal recessive 10.0 FBLN1 SPD3
38 myelodysplasia and leukemia syndrome with monosomy 7 9.9 HOXD10 HOXD13
39 brachydactyly-syndactyly syndrome 9.8 HOXD10 HOXD11 HOXD13
40 duane retraction syndrome 2 9.8 HOXD10 HOXD11 HOXD13
41 ellis-van creveld syndrome 9.8
42 scoliosis 9.8
43 hypospadias 9.8
44 hypoparathyroidism 9.7 HOXD10 HOXD11 HOXD13
45 simpson-golabi-behmel syndrome 8.8 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 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short palm 56 32 Frequent (79-30%) HP:0004279
2 short foot 56 32 Frequent (79-30%) HP:0001773
3 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
4 abnormality of the metacarpal bones 56 32 Frequent (79-30%) HP:0001163
5 sandal gap 56 32 Occasional (29-5%) HP:0001852
6 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
7 symphalangism affecting the phalanges of the hand 56 32 Frequent (79-30%) HP:0009773
8 postaxial foot polydactyly 56 32 Frequent (79-30%) HP:0001830
9 2-3 toe syndactyly 56 32 Very frequent (99-80%) HP:0004691
10 preaxial foot polydactyly 56 32 Occasional (29-5%) HP:0001841
11 3-4 finger syndactyly 56 32 Very frequent (99-80%) HP:0006097
12 mesoaxial polydactyly 56 32 Occasional (29-5%) HP:0100260

MGI Mouse Phenotypes related to Synpolydactyly:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.65 EVX2 FBLN1 HOXD10 HOXD11 HOXD13
2 renal/urinary system MP:0005367 9.46 HOXD10 HOXD11 HOXD13 FBLN1
3 reproductive system MP:0005389 9.35 EVX2 HOXD10 HOXD11 HOXD13 RASSF8
4 skeleton MP:0005390 9.02 EVX2 FBLN1 HOXD10 HOXD11 HOXD13

Drugs & Therapeutics for Synpolydactyly

Search Clinical Trials , 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 2 29
2 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 53)
id Title Authors Year
1
Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly. ( 27254532 )
2016
2
Synpolydactyly of the hand: a radiographic classification. ( 26269507 )
2015
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
Functional classification and mutation analysis of a synpolydactyly kindred. ( 25289061 )
2014
7
Mental retardation, short stature and synpolydactyly in a manifesting heterozygote of Bartsocas-Papas syndrome. ( 23278251 )
2013
8
A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning. ( 24055421 )
2013
9
A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family. ( 23948678 )
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 non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family. ( 22374128 )
2012
12
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft. ( 22473151 )
2012
13
Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly. ( 25759628 )
2012
14
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning. ( 22373878 )
2012
15
Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly. ( 22406499 )
2012
16
Type II familial synpolydactyly: report on two families with an emphasis on variations of expression. ( 20717165 )
2011
17
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. ( 22267994 )
2011
18
Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly. ( 20974300 )
2011
19
A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance. ( 21814222 )
2011
20
Prevention of web creep using a new frame after synpolydactyly surgery. ( 21540735 )
2011
21
[Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis]. ( 22161087 )
2011
22
Plastic repair for a case with synpolydactyly. ( 21184235 )
2011
23
Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly. ( 19686284 )
2009
24
A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype. ( 19060004 )
2009
25
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
26
Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice. ( 18729207 )
2008
27
Synpolydactyly: clinical and molecular advances. ( 18177473 )
2008
28
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences. ( 18072967 )
2007
29
Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. ( 17656229 )
2007
30
Expression of familial middle-ring-little finger syndactyly as either simple syndactyly or synpolydactyly. ( 16139401 )
2006
31
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. ( 16712704 )
2006
32
[HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family]. ( 15696469 )
2005
33
Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly. ( 15952114 )
2005
34
[Genetic analysis of a Chinese pedigree with congenital synpolydactyly]. ( 14669516 )
2003
35
A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. ( 11778160 )
2002
36
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. ( 11850178 )
2002
37
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. ( 11836357 )
2002
38
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
39
Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint. ( 10951517 )
2000
40
A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly. ( 9580668 )
1998
41
Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly. ( 9730609 )
1998
42
Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13. ( 9005557 )
1997
43
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. ( 9207113 )
1997
44
Synpolydactyly in mice with a targeted deficiency in the HoxD complex. ( 8900279 )
1996
45
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. ( 8817328 )
1996
46
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. ( 8614804 )
1996
47
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
48
A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype? ( 7666394 )
1995
49
Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. ( 7581388 )
1995
50
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. ( 7666393 )
1995

Variations for Synpolydactyly

ClinVar genetic disease variations for Synpolydactyly:

6 (show all 12)
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.32G> C (p.Gly11Ala) single nucleotide variant Pathogenic rs536639583 GRCh37 Chromosome 2, 176957650: 176957650
9 HOXD13 NM_000523.3(HOXD13): c.917G> A (p.Arg306Gln) single nucleotide variant Pathogenic rs879255265 GRCh38 Chromosome 2, 176094615: 176094615
10 HOXD13 NM_000523.3(HOXD13): c.781+1G> A single nucleotide variant Pathogenic rs886037831 GRCh37 Chromosome 2, 176958400: 176958400
11 HOXD13 NM_000523.3(HOXD13): c.683G> C (p.Gly228Ala) single nucleotide variant Pathogenic rs121912541 GRCh37 Chromosome 2, 176958301: 176958301
12 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 skeletal system development GO:0001501 9.32 HOXD10 HOXD13
3 anterior/posterior pattern specification GO:0009952 9.26 HOXD10 HOXD13
4 embryonic limb morphogenesis GO:0030326 8.96 HOXD10 HOXD13
5 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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