MCID: CHR674
MIFTS: 22

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b:

Name: Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 57 75 29 6
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b 57 75
Cmt2a2b 57 75
Charcot-Marie-Tooth Disease 2a2b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in first years of life
most patients become wheelchair-bound


HPO:

32
charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 2A2B: An 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. Nerve conduction velocities are normal or slightly reduced. CMT2A2B is a severe form with autosomal recessive inheritance.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b, is also known as charcot-marie-tooth disease, axonal, type 2a2b. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b is MFN2 (Mitofusin 2). Related phenotypes are hearing impairment and optic disc pallor

OMIM : 57 Autosomal recessive axonal CMT2A2B is a neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy (summary by Polke et al., 2011). (617087)

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
hyporeflexia
distal sensory impairment
axonal neuropathy
sural nerve biopsy shows loss of large myelinated fibers

Respiratory:
respiratory insufficiency due to muscle weakness (in some patients)

Head And Neck Eyes:
optic atrophy
pale optic discs
visual impairment, later onset (in some patients)

Neurologic Central Nervous System:
difficulty walking
delayed gross motor development
foot drop
loss of ambulation

Head And Neck Ears:
hearing impairment (in some patients)

Muscle Soft Tissue:
distal muscle weakness, upper and lower limbs, due to peripheral neuropathy
distal muscle atrophy, upper and lower limbs, due to peripheral neuropathy
proximal muscle weakness may also occur


Clinical features from OMIM:

617087

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 optic disc pallor 32 HP:0000543
3 optic atrophy 32 HP:0000648
4 hyporeflexia 32 HP:0001265
5 pes cavus 32 HP:0001761
6 delayed gross motor development 32 HP:0002194
7 difficulty walking 32 HP:0002355
8 scoliosis 32 HP:0002650
9 respiratory insufficiency due to muscle weakness 32 occasional (7.5%) HP:0002747
10 kyphosis 32 HP:0002808
11 distal sensory impairment 32 HP:0002936
12 peripheral axonal neuropathy 32 HP:0003477
13 foot dorsiflexor weakness 32 HP:0009027

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 29 MFN2

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

Publications for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

Variations for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b:

75
# Symbol AA change Variation ID SNP ID
1 MFN2 p.Arg94Gln VAR_018609 rs28940291
2 MFN2 p.Phe216Ser VAR_076896 rs387906990
3 MFN2 p.Arg707Trp VAR_078443 rs119103267

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MFN2 NM_014874.3(MFN2): c.2119C> T (p.Arg707Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119103267 GRCh37 Chromosome 1, 12069698: 12069698
2 MFN2 NM_014874.3(MFN2): c.2119C> T (p.Arg707Trp) single nucleotide variant Pathogenic/Likely pathogenic rs119103267 GRCh38 Chromosome 1, 12009641: 12009641
3 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh37 Chromosome 1, 12052746: 12052746
4 MFN2 NM_014874.3(MFN2): c.310C> T (p.Arg104Trp) single nucleotide variant Pathogenic rs119103268 GRCh38 Chromosome 1, 11992689: 11992689
5 MFN2 MFN2, 3-BP DEL, 113AGA deletion Pathogenic
6 MFN2 NM_014874.3(MFN2): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906990 GRCh37 Chromosome 1, 12058874: 12058874
7 MFN2 NM_014874.3(MFN2): c.647T> C (p.Phe216Ser) single nucleotide variant Pathogenic/Likely pathogenic rs387906990 GRCh38 Chromosome 1, 11998817: 11998817
8 MFN2 MFN2, EX7-8DEL deletion Pathogenic
9 MFN2 NM_014874.3(MFN2): c.1085C> T (p.Thr362Met) single nucleotide variant Pathogenic rs387906991 GRCh37 Chromosome 1, 12062085: 12062085
10 MFN2 NM_014874.3(MFN2): c.1085C> T (p.Thr362Met) single nucleotide variant Pathogenic rs387906991 GRCh38 Chromosome 1, 12002028: 12002028
11 MFN2 NM_014874.3(MFN2): c.1143_1145delGGC (p.Ala383del) deletion Uncertain significance GRCh38 Chromosome 1, 12002086: 12002088
12 MFN2 NM_014874.3(MFN2): c.1143_1145delGGC (p.Ala383del) deletion Uncertain significance GRCh37 Chromosome 1, 12062143: 12062145

Expression for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

Sources for Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type...

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