MCID: OBS385
MIFTS: 18

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 58
Postaxial Hand Polydactyly 29 6
Postaxial Polydactyly of Hand 58

Classifications:



External Ids:

Orphanet 58 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 congenital heart defects, hamartomas of tongue, and polysyndactyly and orofaciodigital syndrome v. An important gene associated with Obsolete: Postaxial Polydactyly of Fingers is BBIP1 (BBSome Interacting Protein 1), and among its related pathways/superpathways is Cargo trafficking to the periciliary membrane. Affiliated tissues include heart and tongue.

Related Diseases for Obsolete: Postaxial Polydactyly of Fingers

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

MalaCards organs/tissues related to Obsolete: Postaxial Polydactyly of Fingers:

40
Heart, Tongue

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]. 61
17151538 2006
2
Parental consanguinity in specific types of congenital anomalies. 61
11471170 2001

Variations for Obsolete: Postaxial Polydactyly of Fingers

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)SNV Pathogenic 225010 rs768933093 12:76741994-76741994 12:76348214-76348214
2 MT-ATP6 NC_012920.1:m.8993T>GSNV Pathogenic 9641 rs199476133 MT:8993-8993 MT:8993-8993
3 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>TSNV Pathogenic 626905 10:112661299-112661299 10:110901541-110901541
4 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)SNV Pathogenic/Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
5 GLI3 NM_000168.6(GLI3):c.1622C>T (p.Thr541Met)SNV Likely pathogenic 627565 7:42018223-42018223 7:41978624-41978624
6 PIGL NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)SNV Conflicting interpretations of pathogenicity 30544 rs145303331 17:16220000-16220000 17:16316686-16316686
7 PIGL NM_004278.4(PIGL):c.176C>A (p.Pro59His)SNV Uncertain significance 374175 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

Pathways related to Obsolete: Postaxial Polydactyly of Fingers according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.65 BBS10 BBIP1

GO Terms for Obsolete: Postaxial Polydactyly of Fingers

Cellular components related to Obsolete: Postaxial Polydactyly of Fingers according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.13 KIF7 BBS10 BBIP1
2 cilium GO:0005929 8.8 KIF7 BBS10 BBIP1

Molecular functions related to Obsolete: Postaxial Polydactyly of Fingers according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 8.62 MT-ATP6 KIF7

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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