MCID: CHR491
MIFTS: 27

Charcot-Marie-Tooth Disease, Dominant Intermediate a

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Metabolic diseases, Muscle 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 57 53 13 73
Cmtdia 57 12 53 59
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a 12 53 59
Di-Cmta 57 12 53
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate a 57 53
Charcot-Marie-Tooth Disease Dominant Intermediate a 12 15
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type a 40
Charcot-Marie-Tooth Neuropathy Dominant Intermediate a 12

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
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:

32
charcot-marie-tooth disease, dominant intermediate a:
Inheritance heterogeneous autosomal dominant inheritance
Onset and clinical course onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 606483
Disease Ontology 12 DOID:0110202
ICD10 33 G60.0
Orphanet 59 ORPHA100043
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1847896
MedGen 42 C1847896
UMLS 73 C1847896

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

OMIM : 57 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 muscle cramps

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 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
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 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 9.8 DNM2 PLEK
2 charcot-marie-tooth disease, dominant intermediate c 9.7 DNM2 PLEK
3 charcot-marie-tooth disease, axonal, type 2b 9.3 DNM2 GJB1
4 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.2 DNM2 GJB1
5 neuropathy 9.1 DNM2 GJB1
6 charcot-marie-tooth disease 8.9 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 pes cavus 32 HP:0001761
2 muscle cramps 32 HP:0003394
3 areflexia 32 HP:0001284
4 hyporeflexia 32 HP:0001265
5 foot dorsiflexor weakness 32 HP:0009027
6 distal muscle weakness 32 HP:0002460
7 steppage gait 32 HP:0003376
8 distal amyotrophy 32 HP:0003693
9 segmental peripheral demyelination/remyelination 32 HP:0003481
10 distal sensory impairment 32 HP:0002936
11 onion bulb formation 32 HP:0003383
12 axonal degeneration/regeneration 32 HP:0003378
13 segmental peripheral demyelination 32 HP:0007107

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 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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