MCID: PLY144
MIFTS: 14

Polydactyly, Postaxial, Type A7

Categories: Genetic diseases, Bone diseases, Fetal 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 57 75 6
Papa7 57 75
Polydactyly, Postaxial, A7 75

Characteristics:

OMIM:

57
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 57 617642
MeSH 44 D017689

Summaries for Polydactyly, Postaxial, Type A7

UniProtKB/Swiss-Prot : 75 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).

OMIM : 57 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). (617642)

Related Diseases for Polydactyly, Postaxial, Type A7

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A7

Symptoms via clinical synopsis from OMIM:

57
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 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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