SPD2
MCID: SYN088
MIFTS: 22

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 58 30 74
Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses 58 13
Spd2 58 60
Synpolydactyly, 3/3-Prime/4, Associated with Metacarpal and Metatarsal Synostoses 58
Synpolydactyly, Debeer Type 60
Synpolydactyly, Type 2 41
Synpolydactyly Type 2 60
Sd2, Debeer Type 60
Spd, Debeer Type 60
Sd2b 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
synpolydactyly 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608180
ICD10 via Orphanet 35 Q70.0 Q70.2
UMLS via Orphanet 75 C1842422
Orphanet 60 ORPHA295197
MedGen 43 C1842422
UMLS 74 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 1 and chromosome 2q35 duplication syndrome. An important gene associated with Synpolydactyly 2 is FBLN1 (Fibulin 1). Affiliated tissues include monocytes, and related phenotypes are toe syndactyly and tarsal synostosis

Description 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 1 10.1
2 chromosome 2q35 duplication syndrome 10.0
3 synpolydactyly 10.0

Symptoms & Phenotypes for Synpolydactyly 2

Human phenotypes related to Synpolydactyly 2:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 toe syndactyly 33 HP:0001770
2 tarsal synostosis 33 HP:0008368
3 metacarpal synostosis 33 HP:0009701
4 carpal synostosis 33 HP:0009702
5 metatarsal synostosis 33 HP:0001440
6 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
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

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 30 FBLN1

Anatomical Context for Synpolydactyly 2

MalaCards organs/tissues related to Synpolydactyly 2:

42
Monocytes

Publications for Synpolydactyly 2

Articles related to Synpolydactyly 2:

# Title Authors Year
1
Spd2 assists Spd1 in the modulation of ribonucleotide reductase architecture but does not regulate deoxynucleotide pools. ( 24652833 )
2014
2
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. ( 8640860 )
1996
3
A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype? ( 7666394 )
1995

Variations for Synpolydactyly 2

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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