ZD1
MCID: ZYG003
MIFTS: 26

Zygodactyly 1 (ZD1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Zygodactyly 1

MalaCards integrated aliases for Zygodactyly 1:

Name: Zygodactyly 1 57 11 12 43 14 71
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 11 DOID:0111820
OMIM® 57 609815
MeSH 43 C565223
ICD10 via Orphanet 32 Q70.3
UMLS via Orphanet 72 C1853294
Orphanet 58 ORPHA295187
MedGen 40 C1853294
UMLS 71 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 08-Dec-2022)

MalaCards based summary: Zygodactyly 1, also known as syndactyly type 1, weidenreich type, is related to chromosome 2q35 duplication syndrome and craniosynostosis philadelphia type. An important gene associated with Zygodactyly 1 is ZD1 (Zygodactyly 1), and among its related pathways/superpathways are Phospholipase-C Pathway and G-protein signaling_Rap2B regulation pathway. Affiliated tissues include bone, and related phenotype is craniofacial.

Disease Ontology: 11 A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement.

Related Diseases for Zygodactyly 1

Diseases in the Zygodactyly 1 family:

Zygodactyly Type 4 Zygodactyly Type 2
Zygodactyly Type 3

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 chromosome 2q35 duplication syndrome 28.2 ZP2 ZD1 FREM2 FRAS1 FGF16 ALX4
2 craniosynostosis philadelphia type 11.4
3 craniosynostosis 10.0
4 brachydactyly, type a2 9.9 ZP2 ALX4
5 syndactyly, type iii 9.9 ZP2 FGF16
6 dacryocystocele 9.9 FREM2 FRAS1
7 chronic inflammation of lacrimal passage 9.9 FREM2 FRAS1
8 crouzon syndrome 9.9 FGF16 ALX4
9 laryngostenosis 9.9 FREM2 FRAS1
10 congenital symblepharon 9.8 FREM2 FRAS1
11 partial cryptophthalmia 9.8 FREM2 FRAS1
12 acrorenal syndrome 9.8 FREM2 FRAS1
13 cryptophthalmos 9.8 FREM2 FRAS1
14 cryptophthalmos, unilateral or bilateral, isolated 9.8 FREM2 FRAS1
15 renal hypodysplasia/aplasia 3 9.8 FREM2 FRAS1
16 congenital anomalies of kidney and urinary tract 2 9.8 FREM2 FRAS1
17 papillorenal syndrome 9.8 FREM2 FRAS1
18 anus, imperforate 9.8 FREM2 FRAS1
19 townes-brocks syndrome 9.8 FREM2 FRAS1
20 oligohydramnios 9.8 FREM2 FRAS1
21 renal hypodysplasia/aplasia 1 9.8 FREM2 FRAS1
22 fraser syndrome 1 9.8 FREM2 FRAS1
23 vesicoureteral reflux 9.7 FREM2 FRAS1
24 diaphragmatic hernia, congenital 9.7 FREM2 FRAS1
25 treacher collins syndrome 1 9.7 FREM2 FRAS1
26 cakut 9.7 FREM2 FRAS1
27 syndactyly, type iv 9.7 ZP2 FGF16 ALX4
28 chromosomal duplication syndrome 9.6 ZP2 FREM2 FRAS1
29 dysostosis 9.6 FRAS1 ALX4
30 coloboma of macula 9.5 FREM2 FRAS1
31 cleft palate, isolated 9.5 FREM2 FRAS1 ALX4
32 synostosis 9.3 ZP2 FREM2 FRAS1 ALX4

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 08-Dec-2022)

MGI Mouse Phenotypes related to Zygodactyly 1:

45
# 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

Cochrane evidence based reviews: zygodactyly 1

Genetic Tests for Zygodactyly 1

Anatomical Context for Zygodactyly 1

Organs/tissues related to Zygodactyly 1:

MalaCards : Bone

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. 62 57
16189548 2005
2
A simple method for characterising syndactyly in clinical practice. 57
16261692 2005
3
Inheritance of zygodactyly. 57
20281709 1946
4
Characterization of a Deep-Branching Heterolobosean, Pharyngomonas turkanaensis n. sp., Isolated from a Non-Hypersaline Habitat, and Ultrastructural Comparison of Cysts and Amoebae Among Pharyngomonas Strains. 62
26291784 2016
5
Characterization of Pharyngomonas kirbyi (= "Macropharyngomonas halophila" nomen nudum), a very deep-branching, obligately halophilic heterolobosean flagellate. 62
21723194 2011
6
Topology of the disulfide bonds in the antiviral lectin scytovirin. 62
20572021 2010
7
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? 62
18680190 2008
8
An intact U5-leader stem is important for efficient replication of simian immunodeficiency virus. 62
11689678 2001
9
Accumulation of highly acidic sulfated glycosphingolipids in human hepatocellular carcinoma defined by a series of monoclonal antibodies. 62
2159366 1990

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 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 9.26 FREM2 FRAS1
2 collagen-containing extracellular matrix GO:0062023 9.1 ZP2 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 9.56 FRAS1 ALX4
2 embryonic digit morphogenesis GO:0042733 9.46 FREM2 ALX4
3 cell communication GO:0007154 9.26 FREM2 FRAS1
4 morphogenesis of an epithelium GO:0002009 8.92 FREM2 FRAS1

Sources for Zygodactyly 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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