PAPA5
MCID: PLY103
MIFTS: 16

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 39 70
Papa5 57

Characteristics:

OMIM®:

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


HPO:

31
polydactyly, postaxial, type a5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 263450
OMIM Phenotypic Series 57 PS174200
MedGen 41 C3550661
SNOMED-CT via HPO 68 205131007 258211005 373413006
UMLS 70 C3550661

Summaries for Polydactyly, Postaxial, Type A5

MalaCards based summary : Polydactyly, Postaxial, Type A5, also known as papa5, is related to mycobacterium tuberculosis 1. An important gene associated with Polydactyly, Postaxial, Type A5 is PAPA5 (Polydactyly, Postaxial, Type A5). Related phenotypes are cutaneous finger syndactyly and postaxial hand polydactyly

More information from OMIM: 263450 PS174200

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 Polydactyly, Postaxial, Type A9
Polydactyly, Postaxial, Type A10

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

# Related Disease Score Top Affiliating Genes
1 mycobacterium tuberculosis 1 10.1

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A5

Human phenotypes related to Polydactyly, Postaxial, Type A5:

31
# Description HPO Frequency HPO Source Accession
1 cutaneous finger syndactyly 31 occasional (7.5%) HP:0010554
2 postaxial hand polydactyly 31 HP:0001162
3 metacarpal synostosis 31 HP:0009701
4 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Publications for Polydactyly, Postaxial, Type A5

Articles related to Polydactyly, Postaxial, Type A5:

(show all 14)
# Title Authors PMID Year
1
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes. 57
21877132 2012
2
[Recessive form of polysyndactyly]. 57
6306160 1982
3
Autosomal recessive postaxial polydactyly type A in a Sicilian family. 57
27639 1978
4
Postaxial polydactyly in three Indian families. 57
5801468 1969
5
Modification of PapA5 acyltransferase substrate selectivity for optimization of short-chain alcohol-derived multimethyl-branched ester production in Escherichia coli. 61
32910267 2020
6
Identification of robust genes in transcriptional regulatory network of Mycobacterium tuberculosis. 61
33095750 2020
7
Diacyltransferase Activity and Chain Length Specificity of Mycobacterium tuberculosis PapA5 in the Synthesis of Alkyl β-Diol Lipids. 61
26271001 2015
8
Expanding the chemical diversity of natural esters by engineering a polyketide-derived pathway into Escherichia coli. 61
24831705 2014
9
The mycobacterial acyltransferase PapA5 is required for biosynthesis of cell wall-associated phenolic glycolipids. 61
22361940 2012
10
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. 61
19826007 2009
11
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. 61
15791687 2005
12
Dissecting the mechanism and assembly of a complex virulence mycobacterial lipid. 61
15749014 2005
13
Crystal structure of PapA5, a phthiocerol dimycocerosyl transferase from Mycobacterium tuberculosis. 61
15123643 2004
14
Mycobacterial polyketide-associated proteins are acyltransferases: proof of principle with Mycobacterium tuberculosis PapA5. 61
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 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....