MCID: SYN084
MIFTS: 28

Synpolydactyly 1

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

Aliases & Classifications for Synpolydactyly 1

MalaCards integrated aliases for Synpolydactyly 1:

Name: Synpolydactyly 1 57 75 29 6 73
Spd1 57 59 75
Synpolydactyly, Vordingborg Type 59
Syndactyly, Type Ii; Sdty2 57
Synpolydactyly, Type 1 ) 40
Synpolydactyly Type 1 59
Sd2, Vordingborg Type 59
Spd, Vordingborg Type 59
Syndactyly, Type Ii 57
Syndactyly Type 2 75
Sdty2 57
Sdyt2 75
Sd2a 59

Characteristics:

Orphanet epidemiological data:

59
synpolydactyly type 1
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
marked intrafamilial variability, with homozygotes exhibiting a more severe phenotype and heterozygotes showing milder features


HPO:

32
synpolydactyly 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 186000
Orphanet 59 ORPHA295195
UMLS via Orphanet 74 C1861367
ICD10 via Orphanet 34 Q70.2 Q70.0
UMLS 73 C1861367

Summaries for Synpolydactyly 1

OMIM : 57 Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986). In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998). Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. (186000)

MalaCards based summary : Synpolydactyly 1, also known as spd1, is related to synpolydactyly. An important gene associated with Synpolydactyly 1 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 finger syndactyly and short palm

UniProtKB/Swiss-Prot : 75 Synpolydactyly 1: Limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance.

Related Diseases for Synpolydactyly 1

Diseases in the Synpolydactyly family:

Synpolydactyly 1 Synpolydactyly 2
Synpolydactyly 3

Diseases related to Synpolydactyly 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 synpolydactyly 9.9

Symptoms & Phenotypes for Synpolydactyly 1

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
broad hallux
postaxial polydactyly
2nd-5th toe middle phalangeal hypoplasia
4th-5th toe syndactyly
preaxial polydactyly (rare)
more
Skin Nails Hair Nails:
absent or underdeveloped nails (in some patients)
absent or rudimentary nails in syndactylous web (in some patients)

Skeletal Hands:
mesoaxial polydactyly
6 metacarpals
brachydactyly (in some patients)
syndactyly, 3rd-4th finger
partial or complete duplication of digit in syndactylous web
more

Clinical features from OMIM:

186000

Human phenotypes related to Synpolydactyly 1:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 finger syndactyly 32 HP:0006101
2 short palm 32 frequent (33%) HP:0004279
3 short foot 32 frequent (33%) HP:0001773
4 clinodactyly of the 5th finger 32 frequent (33%) HP:0004209
5 abnormality of the metacarpal bones 32 frequent (33%) HP:0001163
6 sandal gap 32 occasional (7.5%) HP:0001852
7 camptodactyly of finger 32 frequent (33%) HP:0100490
8 symphalangism affecting the phalanges of the hand 32 frequent (33%) HP:0009773
9 postaxial foot polydactyly 32 frequent (33%) HP:0001830
10 2-3 toe syndactyly 32 hallmark (90%) HP:0004691
11 short middle phalanx of the 5th finger 32 HP:0004220
12 preaxial foot polydactyly 32 occasional (7.5%) HP:0001841
13 contracture of the proximal interphalangeal joint of the 5th finger 32 HP:0009185
14 broad hallux 32 HP:0010055
15 mesoaxial polydactyly 32 occasional (7.5%) HP:0100260
16 mesoaxial hand polydactyly 32 HP:0006159
17 3-4 finger syndactyly 32 hallmark (90%) HP:0006097
18 6 metacarpals 32 HP:0001501
19 2nd-5th toe middle phalangeal hypoplasia 32 HP:0008083
20 y-shaped metacarpals 32 HP:0006042
21 4-5 toe syndactyly 32 HP:0004692

Drugs & Therapeutics for Synpolydactyly 1

Drugs for Synpolydactyly 1 (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 Bone Density Conservation Agents
5 Ergocalciferols
6 Micronutrients
7 Trace Elements
8 Vitamins
9 Calciferol Nutraceutical
10 Vitamin D2 Nutraceutical

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 1

Genetic Tests for Synpolydactyly 1

Genetic tests related to Synpolydactyly 1:

# Genetic test Affiliating Genes
1 Synpolydactyly 1 29 HOXD13

Anatomical Context for Synpolydactyly 1

MalaCards organs/tissues related to Synpolydactyly 1:

41
Bone

Publications for Synpolydactyly 1

Articles related to Synpolydactyly 1:

# Title Authors Year
1
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. ( 7666393 )
1995

Variations for Synpolydactyly 1

UniProtKB/Swiss-Prot genetic disease variations for Synpolydactyly 1:

75
# Symbol AA change Variation ID SNP ID
1 HOXD13 p.Arg306Trp VAR_031651 rs28933082
2 HOXD13 p.Thr313Arg VAR_075400
3 HOXD13 p.Arg306Gly VAR_076833 rs28933082
4 HOXD13 p.Arg306Gln VAR_076834 rs879255265

ClinVar genetic disease variations for Synpolydactyly 1:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13): c.834delG (p.Lys279Argfs) deletion Pathogenic rs878854344 GRCh38 Chromosome 2, 176094532: 176094532
2 HOXD13 NM_000523.3(HOXD13) NT expansion Pathogenic rs193922939 GRCh37 Chromosome 2, 176957787: 176957789
3 HOXD13 NM_000523.3(HOXD13) NT expansion Pathogenic rs193922939 GRCh38 Chromosome 2, 176093059: 176093061
4 HOXD13 NM_000523.3(HOXD13): c.323_336delCAGCACCCACGCCT (p.Pro108Argfs) deletion Pathogenic rs878854343 GRCh37 Chromosome 2, 176957941: 176957954
5 HOXD13 NM_000523.3(HOXD13): c.323_336delCAGCACCCACGCCT (p.Pro108Argfs) deletion Pathogenic rs878854343 GRCh38 Chromosome 2, 176093213: 176093226
6 HOXD13 NM_000523.3(HOXD13): c.834delG (p.Lys279Argfs) deletion Pathogenic rs878854344 GRCh37 Chromosome 2, 176959260: 176959260
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

Expression for Synpolydactyly 1

Search GEO for disease gene expression data for Synpolydactyly 1.

Pathways for Synpolydactyly 1

GO Terms for Synpolydactyly 1

Sources for Synpolydactyly 1

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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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