SD3
MCID: SYN021
MIFTS: 28

Syndactyly Type 3 (SD3) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Syndactyly Type 3

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NIH Rare Diseases:42 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 3, also known as syndactyly, type iii, is related to oculodentodigital dysplasia and syndactyly, and has symptoms including syndactyly of fingers/interdigital palm, autosomal dominant inheritance and camptodactyly of some fingers. An important gene associated with Syndactyly Type 3 is GJA1 (gap junction protein, alpha 1, 43kDa). Affiliated tissues include bone.

Description from OMIM:46 186100

Aliases & Classifications for Syndactyly Type 3

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Syndactyly Type 3, Aliases & Descriptions:

Name: Syndactyly Type 3 42 20 22 48
Syndactyly, Type Iii 46 62
Syndactyly of the Ring and Little Finger 42
Syndactyly of Fingers Four and Five 42
 
Ring and Little Finger Syndactyly 42
Syndactyly of Fingers 4 and 5 48
Sdty3 42
Sd3 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
syndactyly type 3:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


External Ids:

OMIM46 186100
MESH via Orphanet35 C538154
ICD10 via Orphanet26 Q70.1
UMLS via Orphanet63 C1861366

Related Diseases for Syndactyly Type 3

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Diseases in the Syndactyly Type 3 family:

Syndactyly Syndactyly Type 1
Syndactyly Type 2 Syndactyly Type 4
Syndactyly Type 5 Syndactyly Type 9
Syndactyly Type 6

Diseases related to Syndactyly Type 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1oculodentodigital dysplasia30.2GJA1
2syndactyly10.4
3hypoplastic left heart syndrome 110.1GJA1
4saethre-chotzen syndrome10.1
5atrioventricular septal defect 310.1GJA1

Graphical network of diseases related to Syndactyly Type 3:



Diseases related to syndactyly type 3

Symptoms for Syndactyly Type 3

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Symptoms by clinical synopsis from OMIM:

186100

Clinical features from OMIM:

186100

Symptoms:

48
  • syndactyly of fingers/interdigital palm
  • autosomal dominant inheritance
  • camptodactyly of some fingers
  • short foot/brachydactyly of toes

HPO human phenotypes related to Syndactyly Type 3:

(show all 7)
id Description Frequency HPO Source Accession
1 finger syndactyly hallmark (90%) HP:0006101
2 camptodactyly of finger typical (50%) HP:0100490
3 short toe occasional (7.5%) HP:0001831
4 autosomal dominant inheritance HP:0000006
5 absent middle phalanx of 5th finger HP:0009162
6 short 5th finger HP:0009237
7 4-5 finger syndactyly HP:0010705

Drugs & Therapeutics for Syndactyly Type 3

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Drug clinical trials:

Search ClinicalTrials for Syndactyly Type 3

Search NIH Clinical Center for Syndactyly Type 3

Genetic Tests for Syndactyly Type 3

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Genetic tests related to Syndactyly Type 3:

id Genetic test Affiliating Genes
1 Syndactyly, Type Iii20 GJA1
2 Syndactyly Type 322

Anatomical Context for Syndactyly Type 3

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MalaCards organs/tissues related to Syndactyly Type 3:

32
Bone

Animal Models for Syndactyly Type 3 or affiliated genes

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Publications for Syndactyly Type 3

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Variations for Syndactyly Type 3

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UniProtKB/Swiss-Prot genetic disease variations for Syndactyly Type 3:

64
id Symbol AA change Variation ID SNP ID
1GJA1p.Gly143SerVAR_038361rs28931600

Clinvar genetic disease variations for Syndactyly Type 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1GJA1NM_000165.3(GJA1): c.427G> A (p.Gly143Ser)single nucleotide variantPathogenicrs28931600GRCh37Chr 6, 121768420: 121768420

Expression for genes affiliated with Syndactyly Type 3

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Expression patterns in normal tissues for genes affiliated with Syndactyly Type 3

Search GEO for disease gene expression data for Syndactyly Type 3.

Pathways for genes affiliated with Syndactyly Type 3

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Compounds for genes affiliated with Syndactyly Type 3

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GO Terms for genes affiliated with Syndactyly Type 3

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Products for genes affiliated with Syndactyly Type 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Syndactyly Type 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet