PAPA6
MCID: PLY101
MIFTS: 16

Polydactyly, Postaxial, Type A6 (PAPA6)

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

Aliases & Classifications for Polydactyly, Postaxial, Type A6

MalaCards integrated aliases for Polydactyly, Postaxial, Type A6:

Name: Polydactyly, Postaxial, Type A6 56 13 39 71
Papa6 56 73
Postaxial Polydactyly Type A6 6
Polydactyly, Postaxial A6 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
reported in 1 family (last curated may 2013)
variable degree of severity of widening and deviation of fifth fingers, both within and between affected individuals


HPO:

31
polydactyly, postaxial, type a6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 615226
OMIM Phenotypic Series 56 PS174200
MeSH 43 D017689
SNOMED-CT via HPO 68 205131007 258211005
UMLS 71 C3808889

Summaries for Polydactyly, Postaxial, Type A6

UniProtKB/Swiss-Prot : 73 Polydactyly, postaxial A6: 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.

MalaCards based summary : Polydactyly, Postaxial, Type A6, is also known as papa6. An important gene associated with Polydactyly, Postaxial, Type A6 is ZNF141 (Zinc Finger Protein 141). Affiliated tissues include bone and skin, and related phenotypes are postaxial hand polydactyly and broad phalanges of the 5th finger

More information from OMIM: 615226 PS174200

Related Diseases for Polydactyly, Postaxial, Type A6

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A6

Human phenotypes related to Polydactyly, Postaxial, Type A6:

31
# Description HPO Frequency HPO Source Accession
1 postaxial hand polydactyly 31 HP:0001162
2 broad phalanges of the 5th finger 31 HP:0009374

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
fifth finger duplication, well-formed
broad fifth finger, unilateral or bilateral
deviation of fifth finger, radial or ulnar, to variable degree
duplicated distal phalanx of fifth finger (in some patients)
small central phalanx of fifth finger (in some patients)

Skeletal Feet:
fifth toe duplication, well-formed

Clinical features from OMIM:

615226

Drugs & Therapeutics for Polydactyly, Postaxial, Type A6

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, Type A6

Genetic Tests for Polydactyly, Postaxial, Type A6

Anatomical Context for Polydactyly, Postaxial, Type A6

MalaCards organs/tissues related to Polydactyly, Postaxial, Type A6:

40
Bone, Skin

Publications for Polydactyly, Postaxial, Type A6

Articles related to Polydactyly, Postaxial, Type A6:

# Title Authors PMID Year
1
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. 56 6
23160277 2013

Variations for Polydactyly, Postaxial, Type A6

ClinVar genetic disease variations for Polydactyly, Postaxial, Type A6:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF141 NM_003441.4(ZNF141):c.1421C>T (p.Thr474Ile)SNV Pathogenic/Likely pathogenic 50294 rs587776959 4:367647-367647 4:373858-373858

UniProtKB/Swiss-Prot genetic disease variations for Polydactyly, Postaxial, Type A6:

73
# Symbol AA change Variation ID SNP ID
1 ZNF141 p.Thr474Ile VAR_069637 rs587776959

Expression for Polydactyly, Postaxial, Type A6

Search GEO for disease gene expression data for Polydactyly, Postaxial, Type A6.

Pathways for Polydactyly, Postaxial, Type A6

GO Terms for Polydactyly, Postaxial, Type A6

Sources for Polydactyly, Postaxial, Type A6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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