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CMT1D
MCID: CHR653
MIFTS: 41
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1d (CMT1D)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:
Name: Charcot-Marie-Tooth Disease, Demyelinating, Type 1d
57
Characteristics:Inheritance:
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:
Autosomal dominant 57
Charcot-Marie-Tooth Disease Type 1d:
Autosomal dominant 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity onset in first or second decade usually begins in feet and legs (peroneal distribution) upper limb involvement may occur later genetic heterogeneity (see cmt1b, ) allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, ) and dejerine-sottas syndrome (dss, ) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases Skin diseases Mental diseases
ICD10:
31
32
Orphanet: 58
Rare neurological diseases External Ids:
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UniProtKB/Swiss-Prot: 73 A dominant demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. MalaCards based summary: Charcot-Marie-Tooth Disease, Demyelinating, Type 1d, also known as charcot-marie-tooth disease type 1d, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1d is EGR2 (Early Growth Response 2), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include skeletal muscle and peripheral nerve, and related phenotypes are peripheral neuropathy and decreased motor nerve conduction velocity Orphanet: 58 Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. OMIM®: 57 For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200). (607678) (Updated 08-Dec-2022) Disease Ontology: 11 A Charcot-Marie-Tooth disease type 1 that has material basis in mutation in the early growth response gene-2 (EGR2). |
Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:30 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:607678 (Updated 08-Dec-2022) |
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Cochrane evidence based reviews: charcot-marie-tooth disease, type 1d |
Organs/tissues related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:
MalaCards :
Skeletal Muscle
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Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:(show all 12)
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Genes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d (1 elite genes):(show all 14) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:5 (show all 36)
UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:73
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Search
GEO
for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d.
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Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:
Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:
Molecular functions related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:
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