CMT2EE
MCID: CHR683
MIFTS: 26

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 56 12 73 29 6
Cmt2ee 56 12 73
Charcot-Marie-Tooth Neuropathy, Type 2ee 56 73
Charcot-Marie-Tooth Disease, Axonal, 2ee 73
Charcot-Marie-Tooth Disease Type 2ee 12

Characteristics:

OMIM:

56
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


HPO:

31
charcot-marie-tooth disease, axonal, type 2ee:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset progressive


Classifications:



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

UniProtKB/Swiss-Prot : 73 Charcot-Marie-Tooth disease, axonal, 2EE: A recessive axonal 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). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2EE is a slowly progressive, sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs, sometimes resulting in loss of ambulation, with later onset of upper limb involvement.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2ee, is also known as cmt2ee. 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 brain, and related phenotypes are hepatic steatosis and increased csf lactate

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has material basis in homozygous or compound heterozygous mutation in MPV17 on chromosome 2p23.3.

OMIM : 56 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)

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

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

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hepatic steatosis 31 very rare (1%) HP:0001397
2 increased csf lactate 31 very rare (1%) HP:0002490
3 peripheral axonal neuropathy 31 very rare (1%) HP:0003477
4 gait disturbance 31 HP:0001288
5 areflexia 31 HP:0001284
6 elevated hepatic transaminase 31 HP:0002910
7 pes cavus 31 HP:0001761
8 hyporeflexia 31 HP:0001265
9 distal amyotrophy 31 HP:0003693
10 foot dorsiflexor weakness 31 HP:0009027
11 hammertoe 31 HP:0001765
12 distal muscle weakness 31 HP:0002460
13 emg: chronic denervation signs 31 HP:0003444
14 impaired distal tactile sensation 31 HP:0006937
15 decreased distal sensory nerve action potential 31 HP:0007230
16 ulnar claw 31 HP:0001178
17 mildly elevated creatine kinase 31 HP:0008180

Symptoms via clinical synopsis from OMIM:

56
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
axonal sensorimotor peripheral neuropathy
sural nerve biopsy shows loss of myelinated fibers
more
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

Skeletal Feet:
pes cavus
foot drop
hammertoes
clawed toes

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

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

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 29 MPV17

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

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

40
Liver, Skeletal Muscle, Brain, Lung, Skin

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

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

# Title Authors PMID Year
1
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. 56 6
30298599 2019
2
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. 56 6
26437932 2015
3
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. 56 6
22508010 2012
4
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998

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

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MPV17 NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)SNV Pathogenic 38355 rs267607258 2:27535443-27535443 2:27312576-27312576
2 MPV17 NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)SNV Pathogenic/Likely pathogenic 626263 rs140992482 2:27535925-27535925 2:27313058-27313058
3 MPV17 NM_002437.5(MPV17):c.376-9T>GSNV Conflicting interpretations of pathogenicity 593343 rs368900406 2:27535123-27535123 2:27312255-27312255

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2ee:

73
# Symbol AA change Variation ID SNP ID
1 MPV17 p.Pro98Leu VAR_076203 rs267607258
2 MPV17 p.Arg41Gln VAR_082230 rs140992482

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

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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