MCID: SYN060
MIFTS: 27

Syndactyly, Type Iii

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

Aliases & Classifications for Syndactyly, Type Iii

MalaCards integrated aliases for Syndactyly, Type Iii:

Name: Syndactyly, Type Iii 53 13 69
Syndactyly Type 3 72 49 55 28
Ring and Little Finger Syndactyly 53 49 71
Sdty3 53 49 71
Syndactyly of Fingers Iv and V 53 71
Syndactyly of the Ring and Little Finger 49
Syndactyly of Fingers Four and Five 49
Syndactyly of Fingers 4 and 5 55
Syndactyly Type Iii 71
Syndactyly 3 71
Sd3 55

Characteristics:

Orphanet epidemiological data:

55
syndactyly type 3
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
syndactyly, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 186100
Orphanet 55 ORPHA93404
MESH via Orphanet 42 C538154
UMLS via Orphanet 70 C1861366
ICD10 via Orphanet 33 Q70.1
MedGen 39 C1861366
MeSH 41 D013576
UMLS 69 C1861366

Summaries for Syndactyly, Type Iii

NIH Rare Diseases : 49 Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused. There is evidence that SD3 is caused by mutations in the GJA1 gene, which has also been implicated in a condition called oculodentodigital dysplasia. SD3 is the characteristic digital abnormality in this condition. SD3 is inherited in an autosomal dominant manner. Last updated: 6/3/2013

MalaCards based summary : Syndactyly, Type Iii, also known as syndactyly type 3, is related to oculodentodigital dysplasia and oculodentodigital dysplasia, autosomal recessive, and has symptoms including finger syndactyly, short toe and camptodactyly of finger. An important gene associated with Syndactyly, Type Iii is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include bone and heart.

UniProtKB/Swiss-Prot : 71 Syndactyly 3: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected.

Wikipedia : 72 Syndactyly (from Greek συν- meaning \"together\" and δακτυλος meaning \"finger\") is a condition wherein... more...

Description from OMIM: 186100

Related Diseases for Syndactyly, Type Iii

Diseases in the Syndactyly, Type V family:

Syndactyly, Type Iii Syndactyly, Type Iv
Syndactyly Type 6

Diseases related to Syndactyly, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 oculodentodigital dysplasia 11.1
2 oculodentodigital dysplasia, autosomal recessive 11.0
3 saethre-chotzen syndrome 10.9
4 chromosome 2q35 duplication syndrome 10.0
5 heart disease 9.8
6 47,xyy 9.8

Graphical network of the top 20 diseases related to Syndactyly, Type Iii:



Diseases related to Syndactyly, Type Iii

Symptoms & Phenotypes for Syndactyly, Type Iii

Symptoms via clinical synopsis from OMIM:

53
Limbs:
syndactyly
complete bilateral syndactyly between 4th and 5th fingers
occasional fusion of distal phalanges
short 5th finger with absent/rudimentary middle phalanx
unaffected feet


Clinical features from OMIM:

186100

Human phenotypes related to Syndactyly, Type Iii:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0006101
2 short toe 55 31 occasional (7.5%) Occasional (29-5%) HP:0001831
3 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
4 short 5th finger 31 HP:0009237
5 4-5 finger syndactyly 31 HP:0010705
6 absent middle phalanx of 5th finger 31 HP:0009162

Drugs & Therapeutics for Syndactyly, Type Iii

Search Clinical Trials , NIH Clinical Center for Syndactyly, Type Iii

Genetic Tests for Syndactyly, Type Iii

Genetic tests related to Syndactyly, Type Iii:

# Genetic test Affiliating Genes
1 Syndactyly Type 3 28 GJA1

Anatomical Context for Syndactyly, Type Iii

MalaCards organs/tissues related to Syndactyly, Type Iii:

38
Bone, Heart

Publications for Syndactyly, Type Iii

Articles related to Syndactyly, Type Iii:

# Title Authors Year
1
A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease. ( 27966732 )
2016
2
Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family. ( 22826718 )
2012
3
Familial syndactyly type III--report of a large pedigree. ( 8313625 )
1993

Variations for Syndactyly, Type Iii

UniProtKB/Swiss-Prot genetic disease variations for Syndactyly, Type Iii:

71
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Gly143Ser VAR_038361 rs28931600

ClinVar genetic disease variations for Syndactyly, Type Iii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.4(GJA1): c.427G> A (p.Gly143Ser) single nucleotide variant Pathogenic rs28931600 GRCh37 Chromosome 6, 121768420: 121768420

Expression for Syndactyly, Type Iii

Search GEO for disease gene expression data for Syndactyly, Type Iii.

Pathways for Syndactyly, Type Iii

GO Terms for Syndactyly, Type Iii

Sources for Syndactyly, Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....