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MCID: CHR653
MIFTS: 36
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1d
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases
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MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:
Characteristics:Orphanet epidemiological data:59
charcot-marie-tooth disease type 1d
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in first or second decade usually begins in feet and legs (peroneal distribution) upper limb involvement may occur later variable severity genetic heterogeneity (see cmt1b, ) allelic disorders with overlapping phenotypes include congenital hypomyelinating neuropathy (chn, ) and dejerine-sottas syndrome (dss, ) HPO:32
charcot-marie-tooth disease, demyelinating, type 1d:
Inheritance autosomal dominant inheritance heterogeneous Onset and clinical course juvenile onset variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
34
External Ids:
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UniProtKB/Swiss-Prot
:
75
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 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 distal muscle weakness and steppage gait 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) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:607678Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:32 (show all 6)
GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:26 (show all 11)
MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:46
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Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:
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- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:75
ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d:6
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Search
GEO
for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1d.
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Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1d according to GeneCards Suite gene sharing:
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