SDTY3
MCID: SYN060
MIFTS: 27

Syndactyly, Type Iii (SDTY3) malady

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

Aliases & Classifications for Syndactyly, Type Iii

Aliases & Descriptions for Syndactyly, Type Iii:

Name: Syndactyly, Type Iii 54 24 13 69
Ring and Little Finger Syndactyly 50 66
Syndactyly of Fingers Iv and V 24 66
Syndactyly Type Iii 66 29
Syndactyly Type 3 50 56
Sdty3 50 66
Syndactyly of the Ring and Little Finger 50
Syndactyly of Fingers Four and Five 50
Syndactyly of Fingers 4 and 5 56
Syndactyly 3 66
Sd3 56

Characteristics:

Orphanet epidemiological data:

56
syndactyly type 3
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
syndactyly, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 186100
Orphanet 56 ORPHA93404
MESH via Orphanet 43 C538154
UMLS via Orphanet 70 C1861366
ICD10 via Orphanet 34 Q70.1
MedGen 40 C1861366
MeSH 42 D013576

Summaries for Syndactyly, Type Iii

NIH Rare Diseases : 50 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 ring and little finger syndactyly, 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 : 66 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.

Description from OMIM: 186100

Related Diseases for Syndactyly, Type Iii

Diseases in the Syndactyly family:

Syndactyly, Type V 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:

id Related Disease Score Top Affiliating Genes
1 oculodentodigital dysplasia 11.0
2 oculodentodigital dysplasia, autosomal recessive 10.9
3 saethre-chotzen syndrome 10.8
4 syndactyly 9.9
5 heart disease 9.7

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 by clinical synopsis from OMIM:

186100

Clinical features from OMIM:

186100

Human phenotypes related to Syndactyly, Type Iii:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 56 32 Very frequent (99-80%) HP:0006101
2 short toe 56 32 Occasional (29-5%) HP:0001831
3 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
4 short 5th finger 32 HP:0009237
5 4-5 finger syndactyly 32 HP:0010705
6 absent middle phalanx of 5th finger 32 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:

id Genetic test Affiliating Genes
1 Syndactyly Type 3 29
2 Syndactyly, Type Iii 24 GJA1

Anatomical Context for Syndactyly, Type Iii

MalaCards organs/tissues related to Syndactyly, Type Iii:

39
Bone, Heart

Publications for Syndactyly, Type Iii

Articles related to Syndactyly, Type Iii:

id 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:

66
id Symbol AA change Variation ID SNP ID
1 GJA1 p.Gly143Ser VAR_038361 rs28931600

ClinVar genetic disease variations for Syndactyly, Type Iii:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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