CMT2CC
MCID: CHR618
MIFTS: 27

Charcot-Marie-Tooth Disease, Axonal, Type 2cc (CMT2CC)

Categories: Genetic diseases, Metabolic 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 58 76 30 6
Cmt2cc 58 12 76
Charcot-Marie-Tooth Disease Axonal Type 2cc 12 15
Charcot-Marie-Tooth Neuropathy, Type 2cc 58 76
Charcot-Marie-Tooth Neuropathy Type 2cc 12
Charcot-Marie-Tooth Disease 2cc 76

Characteristics:

OMIM:

58
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:

33
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 : 76 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.

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 proximal muscle weakness and babinski sign

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 : 58 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 Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

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 9.6 CASP3 NEFH
2 ewing sarcoma 9.5 CASP3 NEFH

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

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

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness 33 occasional (7.5%) HP:0003701
2 babinski sign 33 very rare (1%) HP:0003487
3 upper limb muscle weakness 33 very rare (1%) HP:0003484
4 lower limb muscle weakness 33 very rare (1%) HP:0007340
5 lower limb amyotrophy 33 very rare (1%) HP:0007210
6 impaired vibratory sensation 33 very rare (1%) HP:0002495
7 emg: neuropathic changes 33 very rare (1%) HP:0003445
8 upper limb amyotrophy 33 very rare (1%) HP:0009129
9 elevated serum creatine kinase 33 very rare (1%) HP:0003236
10 myopathy 33 HP:0003198
11 pes cavus 33 HP:0001761
12 sensory axonal neuropathy 33 HP:0003390
13 waddling gait 33 HP:0002515
14 rimmed vacuoles 33 HP:0003805
15 ragged-red muscle fibers 33 HP:0003200
16 hyporeflexia 33 HP:0001265
17 pyloric stenosis 33 HP:0002021
18 sensorimotor neuropathy 33 HP:0007141
19 increased variability in muscle fiber diameter 33 HP:0003557
20 frequent falls 33 HP:0002359
21 distal sensory impairment 33 HP:0002936
22 muscle fiber splitting 33 HP:0003555

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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