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CMT2Q
MCID: CHR489
MIFTS: 32
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Charcot-Marie-Tooth Disease, Axonal, Type 2q (CMT2Q)
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 2q:
Characteristics:Orphanet epidemiological data:58
autosomal dominant charcot-marie-tooth disease type 2q
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
one 5-generation chinese family reported (last curated november 2014) HPO:31Classifications:
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 2Q: 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 2q, also known as cmt2q, is related to tukel syndrome and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2q is DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production. Affiliated tissues include skeletal muscle, and related phenotypes are skeletal muscle atrophy and sensory impairment Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. |
Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2q:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615025MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2q:45
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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2q:40
Skeletal Muscle
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Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2q:
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Genes related to Charcot-Marie-Tooth Disease, Axonal, Type 2q (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 2q:6
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Search
GEO
for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2q.
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Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2q according to GeneCards Suite gene sharing:
Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2q according to GeneCards Suite gene sharing:
Molecular functions related to Charcot-Marie-Tooth Disease, Axonal, Type 2q according to GeneCards Suite gene sharing:
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