PAPA8
MCID: PLY178
MIFTS: 10

Polydactyly, Postaxial, Type A8 (PAPA8)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Polydactyly, Postaxial, Type A8

MalaCards integrated aliases for Polydactyly, Postaxial, Type A8:

Name: Polydactyly, Postaxial, Type A8 57 6
Papa8 57

Classifications:



External Ids:

OMIM 57 618123

Summaries for Polydactyly, Postaxial, Type A8

OMIM : 57 Postaxial polydactyly type 8A is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails (Palencia-Campos et al., 2017). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200. (618123)

MalaCards based summary : Polydactyly, Postaxial, Type A8, is also known as papa8. An important gene associated with Polydactyly, Postaxial, Type A8 is GLI1 (GLI Family Zinc Finger 1). Affiliated tissues include skin and bone.

Related Diseases for Polydactyly, Postaxial, Type A8

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A8

Clinical features from OMIM:

618123

Drugs & Therapeutics for Polydactyly, Postaxial, Type A8

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, Type A8

Genetic Tests for Polydactyly, Postaxial, Type A8

Anatomical Context for Polydactyly, Postaxial, Type A8

MalaCards organs/tissues related to Polydactyly, Postaxial, Type A8:

41
Skin, Bone

Publications for Polydactyly, Postaxial, Type A8

Variations for Polydactyly, Postaxial, Type A8

ClinVar genetic disease variations for Polydactyly, Postaxial, Type A8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLI1 NM_005269.2(GLI1): c.2340G> A (p.Trp780Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 57864863: 57864863
2 GLI1 NM_005269.2(GLI1): c.2340G> A (p.Trp780Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 57471080: 57471080
3 GLI1 NM_005269.2(GLI1): c.1930C> T (p.Gln644Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 57470670: 57470670
4 GLI1 NM_005269.2(GLI1): c.1930C> T (p.Gln644Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 57864453: 57864453
5 GLI1 NM_005269.2(GLI1): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic rs748321474 GRCh37 Chromosome 12, 57858599: 57858599
6 GLI1 NM_005269.2(GLI1): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic rs748321474 GRCh38 Chromosome 12, 57464816: 57464816

Expression for Polydactyly, Postaxial, Type A8

Search GEO for disease gene expression data for Polydactyly, Postaxial, Type A8.

Pathways for Polydactyly, Postaxial, Type A8

GO Terms for Polydactyly, Postaxial, Type A8

Sources for Polydactyly, Postaxial, Type A8

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
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49 NCI
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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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