CMT2A2B
MCID: CHR674
MIFTS: 26

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b (CMT2A2B)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle 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 72 29 6
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b 57 72 29
Cmt2a2b 57 72
Charcot-Marie-Tooth Disease 2a2b 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
charcot-marie-tooth disease, axonal, autosomal recessive, type 2a2b:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



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

UniProtKB/Swiss-Prot : 72 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. CMT2A2B is a severe form with autosomal recessive inheritance.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b, also known as charcot-marie-tooth disease, axonal, type 2a2b, is related to charcot-marie-tooth disease 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 respiratory insufficiency due to muscle weakness

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) (Updated 20-May-2021)

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

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2a2b 11.0

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

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 respiratory insufficiency due to muscle weakness 31 occasional (7.5%) HP:0002747
3 scoliosis 31 HP:0002650
4 kyphosis 31 HP:0002808
5 optic atrophy 31 HP:0000648
6 pes cavus 31 HP:0001761
7 hyporeflexia 31 HP:0001265
8 optic disc pallor 31 HP:0000543
9 delayed gross motor development 31 HP:0002194
10 proximal muscle weakness 31 HP:0003701
11 difficulty walking 31 HP:0002355
12 distal sensory impairment 31 HP:0002936
13 peripheral axonal neuropathy 31 HP:0003477
14 foot dorsiflexor weakness 31 HP:0009027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis

Skeletal Feet:
pes cavus

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

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

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

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)

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 (Updated 20-May-2021)

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
2 Charcot-Marie-Tooth Disease, Axonal, Type 2a2b 29

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

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

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

# Title Authors PMID Year
1
MFN2 deletion of exons 7 and 8: founder mutation in the UK population. 57 6
26114802 2015
2
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. 6 57
21715711 2011
3
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. 6 57
18458227 2008
4
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. 57
26955893 2016
5
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. 6
26085578 2015
6
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. 6
16835246 2006

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

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

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MFN2 MFN2, EX7-8DEL Deletion Pathogenic 30737 GRCh37:
GRCh38:
2 MFN2 NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) SNV Pathogenic 30736 rs387906990 GRCh37: 1:12058874-12058874
GRCh38: 1:11998817-11998817
3 MFN2 NM_001127660.1(MFN2):c.107_109AGA[2] (p.Lys38del) Microsatellite Pathogenic 30734 rs1478175861 GRCh37: 1:12049331-12049333
GRCh38: 1:11989274-11989276
4 MFN2 NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) SNV Pathogenic 2281 rs119103268 GRCh37: 1:12052746-12052746
GRCh38: 1:11992689-11992689
5 MFN2 NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) SNV Pathogenic 2280 rs119103267 GRCh37: 1:12069698-12069698
GRCh38: 1:12009641-12009641
6 MFN2 NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) SNV Pathogenic 2269 rs28940292 GRCh37: 1:12071567-12071567
GRCh38: 1:12011510-12011510
7 MFN2 NM_014874.3(MFN2):c.271G>T (p.Val91Leu) SNV Likely pathogenic 581439 rs1557519001 GRCh37: 1:12052707-12052707
GRCh38: 1:11992650-11992650
8 MFN2 NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) SNV Likely pathogenic 30738 rs387906991 GRCh37: 1:12062085-12062085
GRCh38: 1:12002028-12002028
9 MFN2 NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) SNV Likely pathogenic 2280 rs119103267 GRCh37: 1:12069698-12069698
GRCh38: 1:12009641-12009641
10 MFN2 NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys) SNV Likely pathogenic 549684 rs1553141017 GRCh37: 1:12049379-12049379
GRCh38: 1:11989322-11989322
11 MFN2 NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser) SNV Likely pathogenic 243074 rs879253862 GRCh37: 1:12057405-12057405
GRCh38: 1:11997348-11997348
12 MFN2 NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) SNV Likely pathogenic 549683 rs1443036026 GRCh37: 1:12056305-12056305
GRCh38: 1:11996248-11996248
13 MFN2 NM_014874.3(MFN2):c.334G>A (p.Val112Met) SNV Likely pathogenic 587402 rs757937208 GRCh37: 1:12056235-12056235
GRCh38: 1:11996178-11996178
14 MFN2 NM_014874.4(MFN2):c.1963A>G (p.Lys655Glu) SNV Uncertain significance 810632 GRCh37: 1:12067200-12067200
GRCh38: 1:12007143-12007143
15 MFN2 NM_001127660.1(MFN2):c.1143_1145GGC[1] (p.Ala383del) Microsatellite Uncertain significance 446368 rs1553144065 GRCh37: 1:12062143-12062145
GRCh38: 1:12002086-12002088
16 MFN2 NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) SNV Uncertain significance 214642 rs147136530 GRCh37: 1:12061483-12061483
GRCh38: 1:12001426-12001426
17 MFN2 NM_014874.3(MFN2):c.491C>T (p.Ala164Val) SNV Uncertain significance 549490 rs1553142699 GRCh37: 1:12057370-12057370
GRCh38: 1:11997313-11997313

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

72
# 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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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