PAPA9
MCID: PLY182
MIFTS: 15

Polydactyly, Postaxial, Type A9 (PAPA9)

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

Aliases & Classifications for Polydactyly, Postaxial, Type A9

MalaCards integrated aliases for Polydactyly, Postaxial, Type A9:

Name: Polydactyly, Postaxial, Type A9 57 29 6 39
Polydactyly, Postaxial, A9 72 17
Papa9 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
intrafamilial and intraindividual variability
based on report of 1 family (last curated december 2018)


HPO:

31
polydactyly, postaxial, type a9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618219
OMIM Phenotypic Series 57 PS174200
MeSH 44 D017689
SNOMED-CT via HPO 68 205131007 258211005

Summaries for Polydactyly, Postaxial, Type A9

UniProtKB/Swiss-Prot : 72 Polydactyly, postaxial, A9: 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. PAPA9 is an autosomal recessive condition characterized by one or more posterior or postaxial digits.

MalaCards based summary : Polydactyly, Postaxial, Type A9, is also known as polydactyly, postaxial, a9. An important gene associated with Polydactyly, Postaxial, Type A9 is CIBAR1 (CBY1 Interacting BAR Domain Containing 1). Related phenotypes are postaxial hand polydactyly and postaxial foot polydactyly

OMIM® : 57 Postaxial polydactyly type A9 is characterized by one or more posterior or postaxial digits. There is intrafamilial and intraindividual variability (Schrauwen et al., 2018). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200. (618219) (Updated 05-Apr-2021)

Related Diseases for Polydactyly, Postaxial, Type A9

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A9

Human phenotypes related to Polydactyly, Postaxial, Type A9:

31
# Description HPO Frequency HPO Source Accession
1 postaxial hand polydactyly 31 very rare (1%) HP:0001162
2 postaxial foot polydactyly 31 very rare (1%) HP:0001830

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
postaxial polydactyly

Skeletal Feet:
postaxial polydactyly

Clinical features from OMIM®:

618219 (Updated 05-Apr-2021)

Drugs & Therapeutics for Polydactyly, Postaxial, Type A9

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, Type A9

Genetic Tests for Polydactyly, Postaxial, Type A9

Genetic tests related to Polydactyly, Postaxial, Type A9:

# Genetic test Affiliating Genes
1 Polydactyly, Postaxial, Type A9 29 CIBAR1

Anatomical Context for Polydactyly, Postaxial, Type A9

Publications for Polydactyly, Postaxial, Type A9

Articles related to Polydactyly, Postaxial, Type A9:

# Title Authors PMID Year
1
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. 57 6
30395363 2019

Variations for Polydactyly, Postaxial, Type A9

ClinVar genetic disease variations for Polydactyly, Postaxial, Type A9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CIBAR1 NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter) SNV Pathogenic 592165 rs368652620 GRCh37: 8:94722038-94722038
GRCh38: 8:93709810-93709810

Expression for Polydactyly, Postaxial, Type A9

Search GEO for disease gene expression data for Polydactyly, Postaxial, Type A9.

Pathways for Polydactyly, Postaxial, Type A9

GO Terms for Polydactyly, Postaxial, Type A9

Sources for Polydactyly, Postaxial, Type A9

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
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