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CMT2O
MCID: CHR668
MIFTS: 30
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Charcot-Marie-Tooth Disease, Axonal, Type 2o (CMT2O)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2o:
Characteristics:Orphanet epidemiological data:58
autosomal dominant charcot-marie-tooth disease type 2o
Inheritance: Autosomal dominant; Age of onset: Childhood; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype onset in childhood slowly progressive one family has been reported (as of september 2011) ambulation is usually maintained during adulthood HPO:31
charcot-marie-tooth disease, axonal, type 2o:
Inheritance autosomal dominant inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Skin diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases |
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UniProtKB/Swiss-Prot :
73
Charcot-Marie-Tooth disease 2O: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2o, is also known as cmt2o. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2o is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1). Affiliated tissues include skin, and related phenotypes are pes cavus and falls Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. |
Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2o:31 (show all 10)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614228 |
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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2o:40
Skin
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Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2o:
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Genes related to Charcot-Marie-Tooth Disease, Axonal, Type 2o (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2o:6 (show top 50) (show all 292)
UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2o:73
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Search
GEO
for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2o.
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