CMT2EE
MCID: CHR683
MIFTS: 22

Charcot-Marie-Tooth Disease, Axonal, Type 2ee (CMT2EE)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2ee:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2ee 58 6
Charcot-Marie-Tooth Neuropathy, Type 2ee 58
Cmt2ee 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
some patients may become wheelchair-bound
juvenile onset (first or second decade)
one patient (patient a) had mild liver involvement


Classifications:



External Ids:

OMIM 58 618400

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

OMIM : 58 Charcot-Marie-Tooth disease type 2EE (CMT2EE) is an autosomal recessive sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs and is slowly progressive, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. There is significant distal muscle weakness and atrophy, usually with foot or hand deformities. Skeletal muscle biopsy shows findings of disturbed mitochondrial maintenance. Cognition is unaffected, and chronic liver disease is absent (summary by Baumann et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210). (618400)

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2ee, is also known as charcot-marie-tooth neuropathy, type 2ee. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2ee is MPV17 (Mitochondrial Inner Membrane Protein MPV17). Affiliated tissues include liver, skeletal muscle and lung.

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus
foot drop
hammertoes
clawed toes

Neurologic Central Nervous System:
impaired gait
nonspecific white matter abnormalities on brain imaging (in some patients)

Laboratory Abnormalities:
mildly increased serum creatine kinase (in some patients)
increased csf lactate (in some patients)
abnormal liver enzymes (patient a)

Skeletal Hands:
clawed hands

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
axonal sensorimotor peripheral neuropathy
sural nerve biopsy shows loss of myelinated fibers
more
Muscle Soft Tissue:
mitochondrial dna deletions (in some patients)
ragged red fibers
lower limbs more affected than upper limbs
distal muscle weakness and atrophy
muscle biopsy shows mitochondrial respiratory chain deficiency
more
Abdomen Liver:
steatosis (patient a)
bridging fibrosis (patient a)

Respiratory Lung:
restrictive lung disease, late-onset (1 patient)

Clinical features from OMIM:

618400

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2ee:

42
Liver, Skeletal Muscle, Lung, Brain, Skin

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2ee:

# Title Authors Year
1
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. ( 30298599 )
2019
2
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. ( 26437932 )
2015
3
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. ( 22508010 )
2012

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2ee:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MPV17 NM_002437.5(MPV17): c.293C> T (p.Pro98Leu) single nucleotide variant Pathogenic rs267607258 GRCh37 Chromosome 2, 27535443: 27535443
2 MPV17 NM_002437.5(MPV17): c.293C> T (p.Pro98Leu) single nucleotide variant Pathogenic rs267607258 GRCh38 Chromosome 2, 27312576: 27312576
3 MPV17 NM_002437.5(MPV17): c.376-9T> G single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 2, 27535123: 27535123
4 MPV17 NM_002437.5(MPV17): c.376-9T> G single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 2, 27312255: 27312255
5 MPV17 NM_002437.5(MPV17): c.122G> A (p.Arg41Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 27313058: 27313058
6 MPV17 NM_002437.5(MPV17): c.122G> A (p.Arg41Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 27535925: 27535925

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2ee.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2ee

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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