PAPA8
MCID: PLY178
MIFTS: 16

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 58 76 6
Papa8 58 76
Polydactyly, Postaxial, A8 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
phenotypic variability, with only hands or only feet affected in some patients
supernumerary digits have well-formed nails


Classifications:



External Ids:

OMIM 58 618123
MeSH 45 D017689
MedGen 43 CN253836

Summaries for Polydactyly, Postaxial, Type A8

UniProtKB/Swiss-Prot : 76 Polydactyly, postaxial, A8: A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet.

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, and related phenotype is postaxial polydactyly.

OMIM : 58 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)

Related Diseases for Polydactyly, Postaxial, Type A8

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A8

Human phenotypes related to Polydactyly, Postaxial, Type A8:

33
# Description HPO Frequency HPO Source Accession
1 postaxial polydactyly 33 HP:0100259

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
postaxial polydactyly
no duplication of metacarpals

Growth Height:
short stature (in some patients)

Skeletal Feet:
postaxial polydactyly

Skeletal Limbs:
genu valgum (in some patients)

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:

42
Skin, Bone

Publications for Polydactyly, Postaxial, Type A8

Articles related to Polydactyly, Postaxial, Type A8:

# Title Authors Year
1
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. ( 28973407 )
2017

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 GRCh37 Chromosome 12, 57858599: 57858599
6 GLI1 NM_005269.2(GLI1): c.337C> T (p.Arg113Ter) single nucleotide variant Pathogenic 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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