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CMT1A
MCID: CHR627
MIFTS: 48
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (CMT1A)
Categories:
Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle diseases
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MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:
Characteristics:Orphanet epidemiological data:59
charcot-marie-tooth disease type 1a
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable severity slowly progressive onset in first or second decade usually begins in feet and legs (peroneal distribution) upper limb involvement usually occurs later insidious onset genetic heterogeneity (see cmt1b, ) allelic disorders with overlapping phenotypes include dejerine-sottas syndrome (dss, ), hereditary neuropathy with liability to pressure palsies (hnpp, ), and cmt with deafness HPO:32
charcot-marie-tooth disease, demyelinating, type 1a:
Onset and clinical course variable expressivity insidious onset slow progression juvenile onset Inheritance heterogeneous autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
34
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NIH Rare Diseases
:
53
Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they can also have hand weakness and sensory loss. In CMT1A, abnormal nerve conduction studies can be found in babies or toddlers, but the symptoms that are characteristic of the disease may not occur until 20 years of age or later. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications. The severity and degree of disability varies very much among the affected people.
MalaCards based summary : Charcot-Marie-Tooth Disease, Demyelinating, Type 1a, also known as charcot-marie-tooth disease, type ia, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Vitamin C and 4-des-dimethylaminotetracycline have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotypes are pes cavus and abnormal motor neuron morphology Disease Ontology : 12 A Charcot-Marie-Tooth disease type 1 that has material basis in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). OMIM : 57 For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (118200). CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age (36,39:Lupski et al., 1991, 1992). (118220) UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 1A: 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:118220Human phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:32 (show all 27)
MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:46
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Drugs for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 12)
Interventional clinical trials:(show all 20)
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MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:41
Testes
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Articles related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:
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Genes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:75 (show all 11)
ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a:6
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Search
GEO
for disease gene expression data for Charcot-Marie-Tooth Disease, Demyelinating, Type 1a.
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Cellular components related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:
Biological processes related to Charcot-Marie-Tooth Disease, Demyelinating, Type 1a according to GeneCards Suite gene sharing:
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