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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:
Name: Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy
57
Characteristics:Orphanet epidemiological data:59
palmoplantar keratoderma-spastic paralysis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; HPO:32
keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy:
Inheritance autosomal dominant inheritance heterogeneous Classifications: |
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MalaCards based summary
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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 keratoderma palmoplantar spastic paralysis, 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). Affiliated tissues include skin, and related phenotypes are gait disturbance and emg abnormality
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:59 32 (show all 17)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:148360UMLS symptoms related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:muscle spasticity |
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MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:41
Skin
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Articles related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy:
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Genes related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy.
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Molecular functions related to Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy according to GeneCards Suite gene sharing:
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