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 58 6
Papa9 58 76
Polydactyly, Postaxial, A9 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618219
MeSH 45 D017689
MedGen 43 CN257493

Summaries for Polydactyly, Postaxial, Type A9

UniProtKB/Swiss-Prot : 76 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 papa9. An important gene associated with Polydactyly, Postaxial, Type A9 is FAM92A (Family With Sequence Similarity 92 Member A). Affiliated tissues include skin and bone.

OMIM : 58 Postaxial polydactyly type A9 is characterized by one or more posterior or postaxial digits. There is intrafamilial and intraindividual variability (Schrauwen et al., 2018). (618219)

Related Diseases for Polydactyly, Postaxial, Type A9

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A9

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
postaxial polydactyly

Skeletal Feet:
postaxial polydactyly

Clinical features from OMIM:

618219

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

Anatomical Context for Polydactyly, Postaxial, Type A9

MalaCards organs/tissues related to Polydactyly, Postaxial, Type A9:

42
Skin, Bone

Publications for Polydactyly, Postaxial, Type A9

Articles related to Polydactyly, Postaxial, Type A9:

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

Variations for Polydactyly, Postaxial, Type A9

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM92A NM_001283034.1(FAM92A): c.478C> T (p.Arg160Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 94722038: 94722038
2 FAM92A NM_001283034.1(FAM92A): c.478C> T (p.Arg160Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 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
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
Content
Loading form....