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PAPA8
MCID: PLY178
MIFTS: 13
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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:58
Inheritance:
autosomal recessive
Miscellaneous:
phenotypic variability, with only hands or only feet affected in some patients supernumerary digits have well-formed nails Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Skin diseases Bone diseases |
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UniProtKB/Swiss-Prot
:
76
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). OMIM : 58 Postaxial polydactyly type 8A 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) |
Diseases in the Polydactyly, Postaxial, Type A1 family: |
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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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