PAPA2
MCID: PLY163
MIFTS: 17

Polydactyly, Postaxial, Type A2 (PAPA2)

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

Aliases & Classifications for Polydactyly, Postaxial, Type A2

MalaCards integrated aliases for Polydactyly, Postaxial, Type A2:

Name: Polydactyly, Postaxial, Type A2 58 74
Postaxial Polydactyly, Type A2 58 13
Polydactyly, Postaxial, Type A2 ) 41
Papa2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
polydactyly, postaxial, type a2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 602085
MedGen 43 C1865883
SNOMED-CT via HPO 70 205131007 263681008
UMLS 74 C1865883

Summaries for Polydactyly, Postaxial, Type A2

MalaCards based summary : Polydactyly, Postaxial, Type A2, also known as postaxial polydactyly, type a2, is related to polydactyly, postaxial, type a1 and polydactyly. An important gene associated with Polydactyly, Postaxial, Type A2 is PAPA2 (Postaxial Polydactyly, Type A2). Affiliated tissues include skin and bone, and related phenotype is postaxial hand polydactyly.

Description from OMIM: 602085

Related Diseases for Polydactyly, Postaxial, Type A2

Diseases in the Polydactyly, Postaxial, Type A1 family:

Polydactyly, Postaxial, Type A5 Polydactyly, Postaxial, Type A2
Polydactyly, Postaxial, Type A3 Polydactyly, Postaxial, Type A4
Polydactyly, Postaxial, Type A6 Polydactyly, Postaxial, Type A7
Polydactyly, Postaxial, Type A8 Polydactyly, Postaxial, Type A9

Diseases related to Polydactyly, Postaxial, Type A2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polydactyly, postaxial, type a1 11.1
2 polydactyly 10.4

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A2

Human phenotypes related to Polydactyly, Postaxial, Type A2:

33
# Description HPO Frequency HPO Source Accession
1 postaxial hand polydactyly 33 HP:0001162

Symptoms via clinical synopsis from OMIM:

58
Limbs:
postaxial polydactyly

Clinical features from OMIM:

602085

Drugs & Therapeutics for Polydactyly, Postaxial, Type A2

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, Type A2

Genetic Tests for Polydactyly, Postaxial, Type A2

Anatomical Context for Polydactyly, Postaxial, Type A2

MalaCards organs/tissues related to Polydactyly, Postaxial, Type A2:

42
Skin, Bone

Publications for Polydactyly, Postaxial, Type A2

Articles related to Polydactyly, Postaxial, Type A2:

# Title Authors Year
1
An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2. ( 19941983 )
2010
2
DACH: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue. ( 11543628 )
2001

Variations for Polydactyly, Postaxial, Type A2

Expression for Polydactyly, Postaxial, Type A2

Search GEO for disease gene expression data for Polydactyly, Postaxial, Type A2.

Pathways for Polydactyly, Postaxial, Type A2

GO Terms for Polydactyly, Postaxial, Type A2

Sources for Polydactyly, Postaxial, Type A2

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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