PAPA7
MCID: PLY144
MIFTS: 19

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 57 72 29 6 39
Papa7 57 72
Polydactyly, Postaxial, A7 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
phenotypic variability among affected individuals in the family


HPO:

31
polydactyly, postaxial, type a7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617642
OMIM Phenotypic Series 57 PS174200
MeSH 44 D017689
SNOMED-CT via HPO 68 258211005

Summaries for Polydactyly, Postaxial, Type A7

OMIM® : 57 PAPA7 is an autosomal recessive disorder characterized by postaxial polydactyly and brachydactyly of the hands and/or feet. Other reported features present in some patients include syndactyly of the second and third digits of the feet, learning disabilities, and increased body weight (Umair et al., 2017; Estrada-Cuzcano et al., 2020). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200. (617642) (Updated 20-May-2021)

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.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Polydactyly, Postaxial, Type A7

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A7

Human phenotypes related to Polydactyly, Postaxial, Type A7:

31
# Description HPO Frequency HPO Source Accession
1 postaxial polydactyly 31 HP:0100259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Hands:
brachydactyly
postaxial polydactyly, bilateral

Neurologic Central Nervous System:
learning disabilities

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

Growth Weight:
overweight

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

Clinical features from OMIM®:

617642 (Updated 20-May-2021)

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

Genetic tests related to Polydactyly, Postaxial, Type A7:

# Genetic test Affiliating Genes
1 Polydactyly, Postaxial, Type A7 29 IQCE

Anatomical Context for Polydactyly, Postaxial, Type A7

Publications for Polydactyly, Postaxial, Type A7

Articles related to Polydactyly, Postaxial, Type A7:

# Title Authors PMID Year
1
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. 6 57
31549751 2020
2
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. 6 57
28488682 2017

Variations for Polydactyly, Postaxial, Type A7

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IQCE NM_152558.5(IQCE):c.395-1G>A SNV Pathogenic 437834 rs755938967 GRCh37: 7:2613051-2613051
GRCh38: 7:2573417-2573417
2 IQCE NM_152558.5(IQCE):c.1350_1353del Microsatellite Pathogenic 638150 rs760694987 GRCh37: 7:2634518-2634521
GRCh38: 7:2594884-2594887
3 IQCE NM_152558.5(IQCE):c.1349+1G>A SNV Pathogenic 1034320 GRCh37: 7:2632761-2632761
GRCh38: 7:2593127-2593127
4 IQCE NM_152558.5(IQCE):c.1969+60_1969+61del Deletion Pathogenic 1034321 GRCh37: 7:2646920-2646921
GRCh38: 7:2607286-2607287
5 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs) Deletion Pathogenic 638149 rs773701437 GRCh37: 7:2625907-2625916
GRCh38: 7:2586273-2586282
6 IQCE NM_152558.5(IQCE):c.3G>A (p.Met1Ile) SNV Likely pathogenic 1030264 GRCh37: 7:2598818-2598818
GRCh38: 7:2559184-2559184
7 IQCE NM_152558.5(IQCE):c.1843C>T (p.His615Tyr) SNV Uncertain significance 977081 GRCh37: 7:2645609-2645609
GRCh38: 7:2605975-2605975

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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