PAPA5
MCID: PLY103
MIFTS: 18

Polydactyly, Postaxial, Type A5 (PAPA5)

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

Aliases & Classifications for Polydactyly, Postaxial, Type A5

MalaCards integrated aliases for Polydactyly, Postaxial, Type A5:

Name: Polydactyly, Postaxial, Type A5 57 13 40 73
Papa5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
polydactyly, postaxial, type a5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 263450
MedGen 42 C3550661
SNOMED-CT via HPO 69 258211005 373413006 205131007
UMLS 73 C3550661

Summaries for Polydactyly, Postaxial, Type A5

MalaCards based summary : Polydactyly, Postaxial, Type A5, also known as papa5, is related to polydactyly, postaxial, type a1. An important gene associated with Polydactyly, Postaxial, Type A5 is PAPA5 (Polydactyly, Postaxial, Type A5). Affiliated tissues include skin and bone, and related phenotypes are cutaneous finger syndactyly and postaxial hand polydactyly

Description from OMIM: 263450

Related Diseases for Polydactyly, Postaxial, Type A5

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

Diseases related to Polydactyly, Postaxial, Type A5 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A5

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
postaxial polydactyly, bilateral
cutaneous syndactyly (in some patients)

Skeletal Feet:
postaxial polydactyly, bilateral
cutaneous syndactyly of toes 2 and 3 (in some patients)


Clinical features from OMIM:

263450

Human phenotypes related to Polydactyly, Postaxial, Type A5:

32
# Description HPO Frequency HPO Source Accession
1 cutaneous finger syndactyly 32 occasional (7.5%) HP:0010554
2 postaxial hand polydactyly 32 HP:0001162
3 syndactyly 32 HP:0001159
4 metacarpal synostosis 32 HP:0009701

Drugs & Therapeutics for Polydactyly, Postaxial, Type A5

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, Type A5

Genetic Tests for Polydactyly, Postaxial, Type A5

Anatomical Context for Polydactyly, Postaxial, Type A5

MalaCards organs/tissues related to Polydactyly, Postaxial, Type A5:

41
Skin, Bone

Publications for Polydactyly, Postaxial, Type A5

Articles related to Polydactyly, Postaxial, Type A5:

# Title Authors Year
1
Diacyltransferase Activity and Chain Length Specificity of Mycobacterium tuberculosis PapA5 in the Synthesis of Alkyl β-Diol Lipids. ( 26271001 )
2015
2
The mycobacterial acyltransferase PapA5 is required for biosynthesis of cell wall-associated phenolic glycolipids. ( 22361940 )
2012
3
Forkhead-associated domain-containing protein Rv0019c and polyketide-associated protein PapA5, from substrates of serine/threonine protein kinase PknB to interacting proteins of Mycobacterium tuberculosis. ( 19826007 )
2009
4
A homologue of the Mycobacterium tuberculosis PapA5 protein, rif-orf20, is an acetyltransferase involved in the biosynthesis of antitubercular drug rifamycin B by Amycolatopsis mediterranei S699. ( 15791687 )
2005
5
Mycobacterial polyketide-associated proteins are acyltransferases: proof of principle with Mycobacterium tuberculosis PapA5. ( 15070765 )
2004

Variations for Polydactyly, Postaxial, Type A5

Expression for Polydactyly, Postaxial, Type A5

Search GEO for disease gene expression data for Polydactyly, Postaxial, Type A5.

Pathways for Polydactyly, Postaxial, Type A5

GO Terms for Polydactyly, Postaxial, Type A5

Sources for Polydactyly, Postaxial, Type A5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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