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PAPA8
MCID: PLY178
MIFTS: 18
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Polydactyly, Postaxial, Type A8 (PAPA8)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Polydactyly, Postaxial, Type A8:
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
phenotypic variability, with only hands or only feet affected in some patients supernumerary digits have well-formed nails HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Skin diseases |
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UniProtKB/Swiss-Prot :
72
Polydactyly, postaxial, A8: 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. PAPA8 is an autosomal recessive condition characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet.
MalaCards based summary : Polydactyly, Postaxial, Type A8, is also known as papa8. An important gene associated with Polydactyly, Postaxial, Type A8 is GLI1 (GLI Family Zinc Finger 1). Related phenotypes are short stature and genu valgum OMIM® : 57 Postaxial polydactyly type A8 is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails (Palencia-Campos et al., 2017). For a discussion of genetic heterogeneity of postaxial polydactyly, see 174200. (618123) (Updated 20-May-2021) |
Human phenotypes related to Polydactyly, Postaxial, Type A8:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:618123 (Updated 20-May-2021) |
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Articles related to Polydactyly, Postaxial, Type A8:
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Genes related to Polydactyly, Postaxial, Type A8 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Polydactyly, Postaxial, Type A8:6
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Search
GEO
for disease gene expression data for Polydactyly, Postaxial, Type A8.
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