ZD1
MCID: ZYG003
MIFTS: 24

Zygodactyly 1 (ZD1)

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

Aliases & Classifications for Zygodactyly 1

MalaCards integrated aliases for Zygodactyly 1:

Name: Zygodactyly 1 57 12 13 15 70
Syndactyly Type 1, Weidenreich Type 58
Zygodactyly, Weidenreich Type 58
Sd1, Weidenreich Type 58
Zygodactyly Type 1 58
Syndactyly Type 1a 58
Sd1a 58
Zd1 57

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111820
OMIM® 57 609815
ICD10 via Orphanet 33 Q70.3
UMLS via Orphanet 71 C1853294
Orphanet 58 ORPHA295187
MedGen 41 C1853294
UMLS 70 C1853294

Summaries for Zygodactyly 1

OMIM® : 57 Syndactyly type I (185900) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. Zygodactyly is a subtype of type I syndactyly in which webbing of second and third toes occurs without hand involvement (summary by Malik et al., 2005). (609815) (Updated 05-Apr-2021)

MalaCards based summary : Zygodactyly 1, also known as syndactyly type 1, weidenreich type, is related to chromosome 2q35 duplication syndrome and craniosynostosis. An important gene associated with Zygodactyly 1 is ZD1 (Zygodactyly 1), and among its related pathways/superpathways are Phospholipase-C Pathway and ECM-receptor interaction. Related phenotype is craniofacial.

Disease Ontology : 12 A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement.

Related Diseases for Zygodactyly 1

Graphical network of the top 20 diseases related to Zygodactyly 1:



Diseases related to Zygodactyly 1

Symptoms & Phenotypes for Zygodactyly 1

Clinical features from OMIM®:

609815 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Zygodactyly 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 ALX4 FGF16 FRAS1 FREM2

Drugs & Therapeutics for Zygodactyly 1

Search Clinical Trials , NIH Clinical Center for Zygodactyly 1

Genetic Tests for Zygodactyly 1

Anatomical Context for Zygodactyly 1

Publications for Zygodactyly 1

Articles related to Zygodactyly 1:

# Title Authors PMID Year
1
Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31. 57 61
16189548 2005
2
A simple method for characterising syndactyly in clinical practice. 57
16261692 2005
3
Inheritance of zygodactyly. 57
20281709 1946

Variations for Zygodactyly 1

Expression for Zygodactyly 1

Search GEO for disease gene expression data for Zygodactyly 1.

Pathways for Zygodactyly 1

Pathways related to Zygodactyly 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.03 FREM2 FRAS1 FGF16
2
Show member pathways
11.35 FREM2 FRAS1
3 9.7 FREM2 FRAS1 FGF16

GO Terms for Zygodactyly 1

Cellular components related to Zygodactyly 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.62 FREM2 FRAS1

Biological processes related to Zygodactyly 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 roof of mouth development GO:0060021 9.26 FRAS1 ALX4
2 embryonic digit morphogenesis GO:0042733 9.16 FREM2 ALX4
3 cell communication GO:0007154 8.96 FREM2 FRAS1
4 morphogenesis of an epithelium GO:0002009 8.62 FREM2 FRAS1

Sources for Zygodactyly 1

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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