CMTDIA
MCID: CHR491
MIFTS: 26

Charcot-Marie-Tooth Disease, Dominant Intermediate a (CMTDIA)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Dominant Intermediate a

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Dominant Intermediate a:

Name: Charcot-Marie-Tooth Disease, Dominant Intermediate a 58 54 13 74
Cmtdia 58 12 54 60
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a 12 54 60
Di-Cmta 58 12 54
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate a 58 54
Charcot-Marie-Tooth Disease Dominant Intermediate a 12 15
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type a 41
Charcot-Marie-Tooth Neuropathy Dominant Intermediate a 12

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in second decade
upper limb involvement occurs later
begins in feet and legs (peroneal distribution)
features intermediate between demyelinating cmt and axonal cmt
rapid disease progression from ages 40 to 50 years
genetic heterogeneity (see, e.g., cmtdib )


HPO:

33
charcot-marie-tooth disease, dominant intermediate a:
Inheritance heterogeneous autosomal dominant inheritance
Onset and clinical course onset


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110202
OMIM 58 606483
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1847896
Orphanet 60 ORPHA100043
MedGen 43 C1847896
UMLS 74 C1847896

Summaries for Charcot-Marie-Tooth Disease, Dominant Intermediate a

OMIM : 58 Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous 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. CMT neuropathy is subdivided into CMT1 (see 118200) and CMT2 (see 118210) types on the basis of electrophysiologic and neuropathologic criteria. CMT1 is a demyelinating neuropathy, whereas CMT2 is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. Davis et al. (1978) proposed that this form be designated 'intermediate' CMT. For a phenotypic description and a discussion of genetic heterogeneity of dominant intermediate CMT neuropathy, see CMTDIB (606482). (606483)

MalaCards based summary : Charcot-Marie-Tooth Disease, Dominant Intermediate a, also known as cmtdia, is related to charcot-marie-tooth disease, dominant intermediate b and charcot-marie-tooth disease, dominant intermediate c, and has symptoms including muscle cramp An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate a is CMTDIA (Charcot-Marie-Tooth Disease, Dominant Intermediate 2), and among its related pathways/superpathways is Gap junction trafficking. Related phenotypes are pes cavus and areflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in variation in the region 10q24.1-q25.1.

Related Diseases for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease Type 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate b 9.9 DNM2 PLEK
2 charcot-marie-tooth disease, dominant intermediate c 9.8 DNM2 PLEK
3 charcot-marie-tooth disease 9.7 DNM2 GJB1
4 charcot-marie-tooth disease, axonal, type 2b 9.6 DNM2 GJB1
5 neuropathy 9.6 DNM2 GJB1
6 peripheral nervous system disease 9.4 DNM2 GJB1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate a:



Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate a

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Human phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate a:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 pes cavus 33 HP:0001761
2 areflexia 33 HP:0001284
3 hyporeflexia 33 HP:0001265
4 foot dorsiflexor weakness 33 HP:0009027
5 distal muscle weakness 33 HP:0002460
6 steppage gait 33 HP:0003376
7 distal amyotrophy 33 HP:0003693
8 segmental peripheral demyelination/remyelination 33 HP:0003481
9 distal sensory impairment 33 HP:0002936
10 onion bulb formation 33 HP:0003383
11 axonal degeneration/regeneration 33 HP:0003378
12 muscle spasm 33 HP:0003394
13 segmental peripheral demyelination 33 HP:0007107

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more

Clinical features from OMIM:

606483

UMLS symptoms related to Charcot-Marie-Tooth Disease, Dominant Intermediate a:


muscle cramp

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Genetic Tests for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Anatomical Context for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Publications for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Variations for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Expression for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Dominant Intermediate a.

Pathways for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Pathways related to Charcot-Marie-Tooth Disease, Dominant Intermediate a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.61 DNM2 GJB1

GO Terms for Charcot-Marie-Tooth Disease, Dominant Intermediate a

Cellular components related to Charcot-Marie-Tooth Disease, Dominant Intermediate a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ruffle membrane GO:0032587 8.62 DNM2 PLEK

Sources for Charcot-Marie-Tooth Disease, Dominant Intermediate a

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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