PAPA10
MCID: PLY184
MIFTS: 17

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 56 6 39
Papa10 56 73
Polydactyly, Postaxial, A10 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
polydactyly, postaxial, type a10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618498
OMIM Phenotypic Series 56 PS174200
MeSH 43 D017689
SNOMED-CT via HPO 68 258211005 715704001

Summaries for Polydactyly, Postaxial, Type A10

UniProtKB/Swiss-Prot : 73 Polydactyly, postaxial, A10: 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. PAPA10 is an autosomal recessive condition 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.

MalaCards based summary : Polydactyly, Postaxial, Type A10, is also known as papa10. An important gene associated with Polydactyly, Postaxial, Type A10 is KIAA0825 (KIAA0825). Affiliated tissues include bone and skin, and related phenotypes are postaxial foot polydactyly and postaxial polydactyly type a

OMIM : 56 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)

Related Diseases for Polydactyly, Postaxial, Type A10

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A10

Human phenotypes related to Polydactyly, Postaxial, Type A10:

31
# Description HPO Frequency HPO Source Accession
1 postaxial foot polydactyly 31 HP:0001830
2 postaxial polydactyly type a 31 HP:0005696

Symptoms via clinical synopsis from OMIM:

56
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

MalaCards organs/tissues related to Polydactyly, Postaxial, Type A10:

40
Bone, Skin

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. 56 6
30982135 2019

Variations for Polydactyly, Postaxial, Type A10

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIAA0825 NM_001145678.2(KIAA0825):c.2173A>T (p.Lys725Ter)SNV Pathogenic 599402 5:93798165-93798165 5:94462460-94462460
2 KIAA0825 NM_173665.3(KIAA0825):c.591dup (p.Gln198fs)duplication Pathogenic 599403 5:93856331-93856332 5:94520626-94520627

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 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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