MCID: OBS385
MIFTS: 12

Obsolete: Postaxial Polydactyly of Fingers

Categories: Rare diseases

Aliases & Classifications for Obsolete: Postaxial Polydactyly of Fingers

MalaCards integrated aliases for Obsolete: Postaxial Polydactyly of Fingers:

Name: Obsolete: Postaxial Polydactyly of Fingers 59
Postaxial Hand Polydactyly 29 6
Postaxial Polydactyly of Hand 59

Classifications:



External Ids:

Orphanet 59 ORPHA294942

Summaries for Obsolete: Postaxial Polydactyly of Fingers

MalaCards based summary : Obsolete: Postaxial Polydactyly of Fingers, also known as postaxial hand polydactyly, is related to heart defect-tongue hamartoma-polysyndactyly syndrome and orofaciodigital syndrome v. An important gene associated with Obsolete: Postaxial Polydactyly of Fingers is BBS10 (Bardet-Biedl Syndrome 10).

Related Diseases for Obsolete: Postaxial Polydactyly of Fingers

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

# Related Disease Score Top Affiliating Genes
1 heart defect-tongue hamartoma-polysyndactyly syndrome 11.4
2 orofaciodigital syndrome v 11.3
3 dandy-walker malformation with postaxial polydactyly 11.3
4 orofaciodigital syndrome xiv 11.3
5 retinitis pigmentosa 9.5 MT-ATP6 BBS10

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



Diseases related to Obsolete: Postaxial Polydactyly of Fingers

Symptoms & Phenotypes for Obsolete: Postaxial Polydactyly of Fingers

Drugs & Therapeutics for Obsolete: Postaxial Polydactyly of Fingers

Search Clinical Trials , NIH Clinical Center for Obsolete: Postaxial Polydactyly of Fingers

Genetic Tests for Obsolete: Postaxial Polydactyly of Fingers

Genetic tests related to Obsolete: Postaxial Polydactyly of Fingers:

# Genetic test Affiliating Genes
1 Postaxial Hand Polydactyly 29

Anatomical Context for Obsolete: Postaxial Polydactyly of Fingers

Publications for Obsolete: Postaxial Polydactyly of Fingers

Articles related to Obsolete: Postaxial Polydactyly of Fingers:

# Title Authors PMID Year
1
[Association of neonatal polydactyly and maternal glucose tolerance impairment in the Congolese environment]. 38
17151538 2006
2
Parental consanguinity in specific types of congenital anomalies. 38
11471170 2001

Variations for Obsolete: Postaxial Polydactyly of Fingers

ClinVar genetic disease variations for Obsolete: Postaxial Polydactyly of Fingers:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MT-ATP6 NC_012920.1: m.8993T> G single nucleotide variant Pathogenic rs199476133 MT:8993-8993 MT:8993-8993
2 BBS10 NM_024685.4(BBS10): c.145C> T (p.Arg49Trp) single nucleotide variant Pathogenic rs768933093 12:76741994-76741994 12:76348214-76348214
3 KIF7 NM_198525.3(KIF7): c.434A> C (p.Tyr145Ser) single nucleotide variant Likely pathogenic rs758361736 15:90193067-90193067 15:89649836-89649836
4 PIGL NM_004278.4(PIGL): c.500T> C (p.Leu167Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145303331 17:16220000-16220000 17:16316686-16316686
5 PIGL NM_004278.4(PIGL): c.176C> A (p.Pro59His) single nucleotide variant Uncertain significance rs1057518948 17:16120716-16120716 17:16217402-16217402

Expression for Obsolete: Postaxial Polydactyly of Fingers

Search GEO for disease gene expression data for Obsolete: Postaxial Polydactyly of Fingers.

Pathways for Obsolete: Postaxial Polydactyly of Fingers

GO Terms for Obsolete: Postaxial Polydactyly of Fingers

Sources for Obsolete: Postaxial Polydactyly of Fingers

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....