MCID: PRX078
MIFTS: 9

Preaxial Polydactyly of Fingers

Categories: Rare diseases

Aliases & Classifications for Preaxial Polydactyly of Fingers

MalaCards integrated aliases for Preaxial Polydactyly of Fingers:

Name: Preaxial Polydactyly of Fingers 20
Preaxial Hand Polydactyly 29 6
Obsolete: Preaxial Polydactyly of Fingers 20
Preaxial Polydactyly of Hand 20

Classifications:



Summaries for Preaxial Polydactyly of Fingers

MalaCards based summary : Preaxial Polydactyly of Fingers, also known as preaxial hand polydactyly, is related to polydactyly, preaxial i and polydactyly, preaxial ii. An important gene associated with Preaxial Polydactyly of Fingers is GLI1 (GLI Family Zinc Finger 1).

Related Diseases for Preaxial Polydactyly of Fingers

Diseases related to Preaxial Polydactyly of Fingers via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial i 11.2
2 polydactyly, preaxial ii 11.2
3 polydactyly, preaxial iii 11.2
4 polydactyly, preaxial iv 11.2
5 polydactyly 10.1

Graphical network of the top 20 diseases related to Preaxial Polydactyly of Fingers:



Diseases related to Preaxial Polydactyly of Fingers

Symptoms & Phenotypes for Preaxial Polydactyly of Fingers

Drugs & Therapeutics for Preaxial Polydactyly of Fingers

Search Clinical Trials , NIH Clinical Center for Preaxial Polydactyly of Fingers

Genetic Tests for Preaxial Polydactyly of Fingers

Genetic tests related to Preaxial Polydactyly of Fingers:

# Genetic test Affiliating Genes
1 Preaxial Hand Polydactyly 29 GLI1

Anatomical Context for Preaxial Polydactyly of Fingers

Publications for Preaxial Polydactyly of Fingers

Articles related to Preaxial Polydactyly of Fingers:

# Title Authors PMID Year
1
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. 6
30620395 2019
2
Preaxial hand polydactyly in association with lumbar hemivertebra. 61
32029517 2020

Variations for Preaxial Polydactyly of Fingers

ClinVar genetic disease variations for Preaxial Polydactyly of Fingers:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLI1 NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln) SNV Uncertain significance 626906 rs753690500 12:57863422-57863422 12:57469639-57469639

Expression for Preaxial Polydactyly of Fingers

Search GEO for disease gene expression data for Preaxial Polydactyly of Fingers.

Pathways for Preaxial Polydactyly of Fingers

GO Terms for Preaxial Polydactyly of Fingers

Sources for Preaxial Polydactyly of Fingers

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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