MCID: KRT067
MIFTS: 20
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Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy
Categories:
Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary...
MalaCards integrated aliases for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:
Characteristics:Orphanet epidemiological data:58
palmoplantar keratoderma-spastic paralysis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; HPO:31
keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy:
Inheritance autosomal dominant inheritance heterogeneous Classifications:
Orphanet: 58
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MalaCards based summary :
Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy, also known as charcot-marie-tooth disease with palmoplantar keratoderma and nail dystrophy, is related to tooth disease and charcot-marie-tooth disease, and has symptoms including muscle spasticity An important gene associated with Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy is KRT1 (Keratin 1). Related phenotypes are gait disturbance and palmoplantar keratoderma
More information from OMIM:
148360
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Diseases related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:58 31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:148360 (Updated 05-Mar-2021)UMLS symptoms related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:muscle spasticity |
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Articles related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:
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GEO
for disease gene expression data for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy.
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