PAPA2
MCID: PLY163
MIFTS: 15

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 57 70
Postaxial Polydactyly, Type A2 57 13
Polydactyly, Postaxial, Type A2 ) 39
Papa2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
polydactyly, postaxial, type a2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 602085
OMIM Phenotypic Series 57 PS174200
MedGen 41 C1865883
SNOMED-CT via HPO 68 205131007 263681008
UMLS 70 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 and simpson-golabi-behmel syndrome. An important gene associated with Polydactyly, Postaxial, Type A2 is PAPA2 (Postaxial Polydactyly, Type A2). Related phenotype is postaxial hand polydactyly.

More information from OMIM: 602085 PS174200

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
Polydactyly, Postaxial, Type A10

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 11.1
2 simpson-golabi-behmel syndrome 10.2
3 partial duplication of the long arm of chromosome 13 10.2
4 overgrowth syndrome 10.2

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A2

Human phenotypes related to Polydactyly, Postaxial, Type A2:

31
# Description HPO Frequency HPO Source Accession
1 postaxial hand polydactyly 31 HP:0001162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Limbs:
postaxial polydactyly

Clinical features from OMIM®:

602085 (Updated 05-Apr-2021)

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

Publications for Polydactyly, Postaxial, Type A2

Articles related to Polydactyly, Postaxial, Type A2:

# Title Authors PMID Year
1
An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2. 61 57
19941983 2010
2
DACH: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue. 61
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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....