PAPA8
MCID: PLY178
MIFTS: 18

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 72 29 6 39
Papa8 57 72
Polydactyly, Postaxial, A8 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
polydactyly, postaxial, type a8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618123
OMIM Phenotypic Series 57 PS174200
MeSH 44 D017689
SNOMED-CT via HPO 68 237836003 258211005 299330008

Summaries for Polydactyly, Postaxial, Type A8

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are short stature and genu valgum

OMIM® : 57 Postaxial polydactyly type A8 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) (Updated 20-May-2021)

Related Diseases for Polydactyly, Postaxial, Type A8

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A8

Human phenotypes related to Polydactyly, Postaxial, Type A8:

31
# Description HPO Frequency HPO Source Accession
1 short stature 31 very rare (1%) HP:0004322
2 genu valgum 31 very rare (1%) HP:0002857
3 postaxial polydactyly 31 HP:0100259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Polydactyly, Postaxial, Type A8:

# Genetic test Affiliating Genes
1 Polydactyly, Postaxial, Type A8 29 GLI1

Anatomical Context for Polydactyly, Postaxial, Type A8

Publications for Polydactyly, Postaxial, Type A8

Articles related to Polydactyly, Postaxial, Type A8:

# Title Authors PMID Year
1
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. 6 57
28973407 2017

Variations for Polydactyly, Postaxial, Type A8

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI1 NM_005269.3(GLI1):c.2340G>A (p.Trp780Ter) SNV Pathogenic 561213 rs1309855392 GRCh37: 12:57864863-57864863
GRCh38: 12:57471080-57471080
2 GLI1 NM_005269.3(GLI1):c.1930C>T (p.Gln644Ter) SNV Pathogenic 561214 rs1565601979 GRCh37: 12:57864453-57864453
GRCh38: 12:57470670-57470670
3 GLI1 NM_005269.3(GLI1):c.337C>T (p.Arg113Ter) SNV Pathogenic 561215 rs748321474 GRCh37: 12:57858599-57858599
GRCh38: 12:57464816-57464816
4 GLI1 NM_005269.3(GLI1):c.985A>T (p.Lys329Ter) SNV Likely pathogenic 982420 GRCh37: 12:57861188-57861188
GRCh38: 12:57467405-57467405
5 GLI1 NM_005269.3(GLI1):c.3065del (p.Gly1022fs) Deletion Uncertain significance 1032306 GRCh37: 12:57865584-57865584
GRCh38: 12:57471801-57471801

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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