PAPA10
MCID: PLY184
MIFTS: 13

Polydactyly, Postaxial, Type A10 (PAPA10)

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

Aliases & Classifications for Polydactyly, Postaxial, Type A10

MalaCards integrated aliases for Polydactyly, Postaxial, Type A10:

Name: Polydactyly, Postaxial, Type A10 57 6 40
Papa10 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
intrafamilial variability
based on a report of 2 pakistani families (last curated july 2019)


Classifications:



External Ids:

Summaries for Polydactyly, Postaxial, Type A10

OMIM : 57 Postaxial polydactyly type A10 is characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed (Ullah et al., 2019). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200. (618498)

MalaCards based summary : Polydactyly, Postaxial, Type A10, is also known as papa10. An important gene associated with Polydactyly, Postaxial, Type A10 is KIAA0825 (KIAA0825).

Related Diseases for Polydactyly, Postaxial, Type A10

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A10

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
postaxial polydactyly, type a
postaxial polydactyly, type b (rare)

Skeletal Feet:
postaxial polydactyly, type a

Clinical features from OMIM:

618498

Drugs & Therapeutics for Polydactyly, Postaxial, Type A10

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, Type A10

Genetic Tests for Polydactyly, Postaxial, Type A10

Anatomical Context for Polydactyly, Postaxial, Type A10

Publications for Polydactyly, Postaxial, Type A10

Articles related to Polydactyly, Postaxial, Type A10:

# Title Authors PMID Year
1
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. 8 71
30982135 2019

Variations for Polydactyly, Postaxial, Type A10

ClinVar genetic disease variations for Polydactyly, Postaxial, Type A10:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KIAA0825 NM_001145678.2(KIAA0825): c.2173A> T (p.Lys725Ter) single nucleotide variant Pathogenic 5:93798165-93798165 5:94462460-94462460
2 KIAA0825 NM_173665.3(KIAA0825): c.591dup (p.Gln198fs) duplication Pathogenic 5:93856332-93856332 5:94520627-94520627

Expression for Polydactyly, Postaxial, Type A10

Search GEO for disease gene expression data for Polydactyly, Postaxial, Type A10.

Pathways for Polydactyly, Postaxial, Type A10

GO Terms for Polydactyly, Postaxial, Type A10

Sources for Polydactyly, Postaxial, Type A10

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....