PAPA7
MCID: PLY144
MIFTS: 14

Polydactyly, Postaxial, Type A7 (PAPA7)

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

Aliases & Classifications for Polydactyly, Postaxial, Type A7

MalaCards integrated aliases for Polydactyly, Postaxial, Type A7:

Name: Polydactyly, Postaxial, Type A7 58 76 6
Papa7 58 76
Polydactyly, Postaxial, A7 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 family (last curated august 2017)
phenotypic variability among affected individuals in the family


Classifications:



External Ids:

OMIM 58 617642
MeSH 45 D017689

Summaries for Polydactyly, Postaxial, Type A7

UniProtKB/Swiss-Prot : 76 Polydactyly, postaxial, A7: 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. PAPA7 is an autosomal recessive condition characterized by postaxial polydactyly restricted to the feet.

MalaCards based summary : Polydactyly, Postaxial, Type A7, is also known as papa7. An important gene associated with Polydactyly, Postaxial, Type A7 is IQCE (IQ Motif Containing E). Related phenotype is postaxial polydactyly.

OMIM : 58 PAPA7 is characterized by postaxial polydactyly restricted to the feet, with well-developed nails present on the extra digits and attachment of both the fifth and sixth toes to a broad 2-headed fifth metatarsal (Umair et al., 2017). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200. (617642)

Related Diseases for Polydactyly, Postaxial, Type A7

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A7

Human phenotypes related to Polydactyly, Postaxial, Type A7:

33
# Description HPO Frequency HPO Source Accession
1 postaxial polydactyly 33 HP:0100259

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
postaxial polydactyly, unilateral or bilateral
thick, broad, 2-headed fifth metatarsal
cutaneous 2-3 toe syndactyly (in 1 patient)
brachymetatarsia of fifth toe (in 1 patient)

Skin Nails Hair Nails:
well-developed nails in the extra toes

Clinical features from OMIM:

617642

Drugs & Therapeutics for Polydactyly, Postaxial, Type A7

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, Type A7

Genetic Tests for Polydactyly, Postaxial, Type A7

Anatomical Context for Polydactyly, Postaxial, Type A7

Publications for Polydactyly, Postaxial, Type A7

Variations for Polydactyly, Postaxial, Type A7

ClinVar genetic disease variations for Polydactyly, Postaxial, Type A7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IQCE NM_152558.4(IQCE): c.395-1G> A single nucleotide variant Pathogenic rs755938967 GRCh37 Chromosome 7, 2613051: 2613051
2 IQCE NM_152558.4(IQCE): c.395-1G> A single nucleotide variant Pathogenic rs755938967 GRCh38 Chromosome 7, 2573417: 2573417

Expression for Polydactyly, Postaxial, Type A7

Search GEO for disease gene expression data for Polydactyly, Postaxial, Type A7.

Pathways for Polydactyly, Postaxial, Type A7

GO Terms for Polydactyly, Postaxial, Type A7

Sources for Polydactyly, Postaxial, Type A7

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....