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CMT1D
MCID: CHR653
MIFTS: 39
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1d (CMT1D)
Categories:
Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:
Characteristics:Orphanet epidemiological data:58
charcot-marie-tooth disease type 1d
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
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, ) HPO:31
charcot-marie-tooth disease, demyelinating, type 1d:
Inheritance autosomal dominant inheritance heterogeneous Onset and clinical course variable expressivity juvenile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases External Ids:
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UniProtKB/Swiss-Prot :
73
Charcot-Marie-Tooth disease 1D: 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 charcot-marie-tooth disease and deafness 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 is Neural Crest Differentiation. Related phenotypes are peripheral neuropathy and decreased motor nerve conduction velocity Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in mutation in the early growth response gene-2 (EGR2). 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 05-Mar-2021) |
Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:31 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:607678 (Updated 05-Mar-2021) |
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Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:
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Genes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d (1 elite genes):(show all 12) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:6 (show all 35)
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:
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