MCID: CHR618
MIFTS: 26

Charcot-Marie-Tooth Disease, Axonal, Type 2cc

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

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

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

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2cc 57 75 29 6
Cmt2cc 57 12 75
Charcot-Marie-Tooth Disease Axonal Type 2cc 12 15
Charcot-Marie-Tooth Neuropathy, Type 2cc 57 75
Charcot-Marie-Tooth Neuropathy Type 2cc 12
Charcot-Marie-Tooth Disease 2cc 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
two unrelated families have been reported (last curated april 2016)
variable age at onset (range early childhood to fourth decade)


HPO:

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


Classifications:



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

UniProtKB/Swiss-Prot : 75 Charcot-Marie-Tooth disease 2CC: 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2cc, also known as cmt2cc, is related to amyotrophic lateral sclerosis 1 and ewing sarcoma. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2cc is NEFH (Neurofilament Heavy), and among its related pathways/superpathways is Amyotrophic lateral sclerosis (ALS). Related phenotypes are hyporeflexia and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the NEFH gene on chromosome 22q12.

OMIM : 57 Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210). (616924)

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

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

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

# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 1 9.2 CASP3 NEFH
2 ewing sarcoma 9.0 CASP3 NEFH

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
high-arched feet

Neurologic Central Nervous System:
frequent falls
impaired gait due to peripheral neuropathy

Laboratory Abnormalities:
increase serum creatine kinase (in some patients)

Neurologic Peripheral Nervous System:
hyporeflexia
distal sensory impairment
axonal sensorimotor neuropathy
nerve conduction velocities are normal or slightly decreased
decreased amplitudes

Muscle Soft Tissue:
proximal muscle weakness (in some patients)
distal muscle weakness primarily in lower limbs due to peripheral neuropathy
distal muscle atrophy primarily in lower limbs due to peripheral neuropathy
neurogenic changes seen on emg and muscle biopsy
myopathic changes seen on emg and muscle biopsy (in some patients)


Clinical features from OMIM:

616924

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

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 pes cavus 32 HP:0001761
3 pyloric stenosis 32 HP:0002021
4 frequent falls 32 HP:0002359
5 impaired vibratory sensation 32 very rare (1%) HP:0002495
6 waddling gait 32 HP:0002515
7 distal sensory impairment 32 HP:0002936
8 myopathy 32 HP:0003198
9 ragged-red muscle fibers 32 HP:0003200
10 elevated serum creatine phosphokinase 32 very rare (1%) HP:0003236
11 sensory axonal neuropathy 32 HP:0003390
12 emg 32 very rare (1%) HP:0003445
13 upper limb muscle weakness 32 very rare (1%) HP:0003484
14 babinski sign 32 very rare (1%) HP:0003487
15 muscle fiber splitting 32 HP:0003555
16 increased variability in muscle fiber diameter 32 HP:0003557
17 proximal muscle weakness 32 occasional (7.5%) HP:0003701
18 rimmed vacuoles 32 HP:0003805
19 lower limb amyotrophy 32 very rare (1%) HP:0007210
20 lower limb muscle weakness 32 very rare (1%) HP:0007340
21 upper limb amyotrophy 32 very rare (1%) HP:0009129

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

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

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

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

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

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

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

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEFH NM_021076.3(NEFH): c.3010_3011delGA (p.Asp1004Glnfs) deletion Pathogenic rs876657411 GRCh38 Chromosome 22, 29490650: 29490651
2 NEFH NM_021076.3(NEFH): c.3010_3011delGA (p.Asp1004Glnfs) deletion Pathogenic rs876657411 GRCh37 Chromosome 22, 29886639: 29886640
3 NEFH NM_021076.3(NEFH): c.3017_3020dupAGCC (p.Pro1008Alafs) duplication Pathogenic rs876657412 GRCh37 Chromosome 22, 29886646: 29886649
4 NEFH NM_021076.3(NEFH): c.3017_3020dupAGCC (p.Pro1008Alafs) duplication Pathogenic rs876657412 GRCh38 Chromosome 22, 29490657: 29490660

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

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

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

Pathways related to Charcot-Marie-Tooth Disease, Axonal, Type 2cc according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.68 CASP3 NEFH

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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