SPD2
MCID: SYN088
MIFTS: 24

Synpolydactyly 2 (SPD2)

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

Aliases & Classifications for Synpolydactyly 2

MalaCards integrated aliases for Synpolydactyly 2:

Name: Synpolydactyly 2 57 29 6 70
Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses 57 13
Spd2 57 58
Synpolydactyly, 3/3-Prime/4, Associated with Metacarpal and Metatarsal Synostoses 57
Synpolydactyly, Debeer Type 58
Synpolydactyly, Type 2 39
Synpolydactyly Type 2 58
Sd2, Debeer Type 58
Spd, Debeer Type 58
Sd2b 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
associated with a balanced translocation t(12,22)(p11.2,q13.3)


HPO:

31
synpolydactyly 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 608180
ICD10 via Orphanet 33 Q70.0 Q70.2
UMLS via Orphanet 71 C1842422
Orphanet 58 ORPHA295197
MedGen 41 C1842422
UMLS 70 C1842422

Summaries for Synpolydactyly 2

MalaCards based summary : Synpolydactyly 2, also known as synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, is related to synpolydactyly and chromosome 2q35 duplication syndrome. An important gene associated with Synpolydactyly 2 is FBLN1 (Fibulin 1). Affiliated tissues include thymus and monocytes, and related phenotypes are toe syndactyly and tarsal synostosis

More information from OMIM: 608180

Related Diseases for Synpolydactyly 2

Diseases in the Synpolydactyly family:

Synpolydactyly 1 Synpolydactyly 2
Synpolydactyly 3

Diseases related to Synpolydactyly 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 synpolydactyly 11.2
2 chromosome 2q35 duplication syndrome 10.0
3 synpolydactyly 1 10.0
4 polydactyly 10.0
5 cytokine deficiency 9.9

Graphical network of the top 20 diseases related to Synpolydactyly 2:



Diseases related to Synpolydactyly 2

Symptoms & Phenotypes for Synpolydactyly 2

Human phenotypes related to Synpolydactyly 2:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 toe syndactyly 31 HP:0001770
2 tarsal synostosis 31 HP:0008368
3 carpal synostosis 31 HP:0009702
4 metacarpal synostosis 31 HP:0009701
5 polydactyly 31 HP:0010442
6 metatarsal synostosis 31 HP:0001440

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Hands:
syndactyly (often 3rd and 4th digits)
synpolydactyly (3rd or 4th digits)
metacarpal synostosis (4th and 5th digits)
symmetric, bilateral malformations

Skeletal Feet:
symmetric, bilateral malformations
syndactyly (2nd, 3rd, 4th digits)
metatarsal synostosis (3rd and 4th digits)

Clinical features from OMIM®:

608180 (Updated 20-May-2021)

Drugs & Therapeutics for Synpolydactyly 2

Search Clinical Trials , NIH Clinical Center for Synpolydactyly 2

Genetic Tests for Synpolydactyly 2

Genetic tests related to Synpolydactyly 2:

# Genetic test Affiliating Genes
1 Synpolydactyly 2 29 FBLN1

Anatomical Context for Synpolydactyly 2

MalaCards organs/tissues related to Synpolydactyly 2:

40
Thymus, Monocytes

Publications for Synpolydactyly 2

Articles related to Synpolydactyly 2:

(show all 24)
# Title Authors PMID Year
1
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. 57
11836357 2002
2
Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint. 57
10951517 2000
3
Co-segregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3'/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members. 57
9690000 1998
4
Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly. 57
9730609 1998
5
Cenani-Lenz syndrome in father and daughter. 57
8831136 1996
6
Plk4 Regulates Centriole Asymmetry and Spindle Orientation in Neural Stem Cells. 61
31130353 2019
7
Dietary soybean antigen impairs growth and health through stress-induced non-specific immune responses in Pacific white shrimp, Litopenaeus vannamei. 61
30261296 2019
8
Purification, structural and biophysical characterisation of the major seminal plasma protein from Texel rams. 61
29249516 2018
9
Identification and characterization of suppressors of plant cell death (SPD) effectors from Magnaporthe oryzae. 61
27301772 2017
10
Deoxynucleoside Salvage in Fission Yeast Allows Rescue of Ribonucleotide Reductase Deficiency but Not Spd1-Mediated Inhibition of Replication. 61
28441348 2017
11
Impact of Single- vs. Split-Dose Low-Volume Bowel Preparations on Bowel Movement Kinetics, Patient Inconvenience, and Polyp Detection: A Prospective Trial. 61
27377521 2016
12
Targeting of Fzr/Cdh1 for timely activation of the APC/C at the centrosome during mitotic exit. 61
27558644 2016
13
Spd2 assists Spd1 in the modulation of ribonucleotide reductase architecture but does not regulate deoxynucleotide pools. 61
24652833 2014
14
Stepwise evolution of the centriole-assembly pathway. 61
20392737 2010
15
Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences. 61
18072967 2007
16
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. 61
16712704 2006
17
Regulation of receptor protein-tyrosine phosphatase alpha by oxidative stress. 61
11847098 2002
18
Inhibition of zymosan-induced air-pouch inflammation by rat seminal vesicle protein and by its spermidine derivative. 61
8894615 1996
19
Rat seminal vesicle protein SV-IV and its transglutaminase-synthesized polyaminated derivative SPD2-SV-IV induce cytokine release from human resting lymphocytes and monocytes in vitro. 61
8640860 1996
20
A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype? 61
7666394 1995
21
Biological activities of a major protein secreted from the rat seminal vesicles after structural modification catalyzed by transglutaminase in vitro. 61
8099070 1993
22
Calculation and measurements of absorbed dose in total body irradiation. 61
2206578 1990
23
Comparative study of the condensation of chicken erythrocyte and calf thymus chromatins by di- and multivalent cations. 61
3271492 1988
24
Initiation of sporulation in Saccharomyces cerevisiae. Mutations causing derepressed sporulation and G1 arrest in the cell division cycle. 61
6374028 1984

Variations for Synpolydactyly 2

ClinVar genetic disease variations for Synpolydactyly 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBLN1 NM_006486.3(FBLN1):c.32C>A (p.Pro11Gln) SNV Uncertain significance 1031049 GRCh37: 22:45898897-45898897
GRCh38: 22:45503017-45503017

Expression for Synpolydactyly 2

Search GEO for disease gene expression data for Synpolydactyly 2.

Pathways for Synpolydactyly 2

GO Terms for Synpolydactyly 2

Sources for Synpolydactyly 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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