MCID: SYN088
MIFTS: 20

Synpolydactyly 2

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

Aliases & Classifications for Synpolydactyly 2

MalaCards integrated aliases for Synpolydactyly 2:

Name: Synpolydactyly 2 57 37 29 73
Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses 57 13
Spd2 57 59
Synpolydactyly, 3/3-Prime/4, Associated with Metacarpal and Metatarsal Synostoses 57
Synpolydactyly, Debeer Type 59
Synpolydactyly, Type 2 40
Synpolydactyly Type 2 59
Sd2, Debeer Type 59
Spd, Debeer Type 59
Sd2b 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
synpolydactyly 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608180
Orphanet 59 ORPHA295197
UMLS via Orphanet 74 C1842422
ICD10 via Orphanet 34 Q70.0 Q70.2
MedGen 42 C1842422
KEGG 37 H00851
UMLS 73 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. An important gene associated with Synpolydactyly 2 is FBLN1 (Fibulin 1). Affiliated tissues include bone, 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 9.9

Symptoms & Phenotypes for Synpolydactyly 2

Symptoms via clinical synopsis from OMIM:

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

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


Clinical features from OMIM:

608180

Human phenotypes related to Synpolydactyly 2:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 toe syndactyly 32 HP:0001770
2 tarsal synostosis 32 HP:0008368
3 metacarpal synostosis 32 HP:0009701
4 carpal synostosis 32 HP:0009702
5 metatarsal synostosis 32 HP:0001440
6 polydactyly 32 HP:0010442

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:

41
Bone

Publications for Synpolydactyly 2

Articles related to Synpolydactyly 2:

# Title Authors Year
1
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 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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