MCID: PLY101
MIFTS: 15

Polydactyly, Postaxial, Type A6

Categories: Genetic diseases, Bone diseases, Fetal 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 57 13 40 73
Papa6 57 75
Postaxial Polydactyly Type A6 6
Polydactyly, Postaxial A6 75

Characteristics:

OMIM:

57
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:

32
polydactyly, postaxial, type a6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615226
MeSH 44 D017689
SNOMED-CT via HPO 69 258211005 205131007
UMLS 73 C3808889

Summaries for Polydactyly, Postaxial, Type A6

UniProtKB/Swiss-Prot : 75 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). Related phenotypes are postaxial hand polydactyly and broad phalanges of the 5th finger

Description from OMIM: 615226

Related Diseases for Polydactyly, Postaxial, Type A6

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A6

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Polydactyly, Postaxial, Type A6:

32
# Description HPO Frequency HPO Source Accession
1 postaxial hand polydactyly 32 HP:0001162
2 broad phalanges of the 5th finger 32 HP:0009374

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

Publications for Polydactyly, Postaxial, Type A6

Variations for Polydactyly, Postaxial, Type A6

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

75
# Symbol AA change Variation ID SNP ID
1 ZNF141 p.Thr474Ile VAR_069637 rs587776959

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF141 NM_003441.3(ZNF141): c.1421C> T (p.Thr474Ile) single nucleotide variant Pathogenic/Likely pathogenic rs587776959 GRCh37 Chromosome 4, 367647: 367647
2 ZNF141 NM_003441.3(ZNF141): c.1421C> T (p.Thr474Ile) single nucleotide variant Pathogenic/Likely pathogenic rs587776959 GRCh38 Chromosome 4, 373858: 373858

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 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
Content
Loading form....