MCID: SYN060
MIFTS: 26

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 57 13 40 73
Syndactyly Type 3 76 53 59 29 6
Ring and Little Finger Syndactyly 57 53 75
Sdty3 57 53 75
Syndactyly of Fingers Iv and V 57 75
Syndactyly of the Ring and Little Finger 53
Syndactyly of Fingers Four and Five 53
Syndactyly of Fingers 4 and 5 59
4-5 Finger Syndactyly 6
Syndactyly Type Iii 75
Syndactyly 3 75
Sd3 59

Characteristics:

Orphanet epidemiological data:

59
syndactyly type 3
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
syndactyly, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 186100
Orphanet 59 ORPHA93404
MESH via Orphanet 45 C538154
UMLS via Orphanet 74 C1861366
ICD10 via Orphanet 34 Q70.1
MedGen 42 C1861366
MeSH 44 D013576
UMLS 73 C1861366

Summaries for Syndactyly, Type Iii

NIH Rare Diseases : 53 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.

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

UniProtKB/Swiss-Prot : 75 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 : 76 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 heart disease 9.8
5 waardenburg's syndrome 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:

57
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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short toe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001831
2 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
3 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
4 absent middle phalanx of 5th finger 32 HP:0009162
5 short 5th finger 32 HP:0009237
6 4-5 finger syndactyly 32 HP:0010705

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 29 GJA1

Anatomical Context for Syndactyly, Type Iii

MalaCards organs/tissues related to Syndactyly, Type Iii:

41
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:

75
# 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
2 GJA1 NM_000165.4(GJA1): c.427G> A (p.Gly143Ser) single nucleotide variant Pathogenic rs28931600 GRCh38 Chromosome 6, 121447274: 121447274
3 GJA1 NM_000165.4(GJA1): c.486G> C (p.Lys162Asn) single nucleotide variant Likely pathogenic rs1057518960 GRCh37 Chromosome 6, 121768479: 121768479
4 GJA1 NM_000165.4(GJA1): c.486G> C (p.Lys162Asn) single nucleotide variant Likely pathogenic rs1057518960 GRCh38 Chromosome 6, 121447333: 121447333
5 HDAC8 NM_018486.2(HDAC8): c.584T> G (p.Val195Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 71710823: 71710823
6 HDAC8 NM_018486.2(HDAC8): c.584T> G (p.Val195Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 72490973: 72490973

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
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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