CMTDIA
MCID: CHR491
MIFTS: 31

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

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological 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 56 52 13 71
Cmtdia 56 12 52 58
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a 12 52 58
Di-Cmta 56 12 52
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate a 56 52
Charcot-Marie-Tooth Disease Dominant Intermediate a 12 15
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type a 39
Charcot-Marie-Tooth Neuropathy Dominant Intermediate a 12

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
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:

31
charcot-marie-tooth disease, dominant intermediate a:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110202
OMIM 56 606483
OMIM Phenotypic Series 56 PS118220
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1847896
Orphanet 58 ORPHA100043
MedGen 41 C1847896
UMLS 71 C1847896

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

OMIM : 56 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 and charcot-marie-tooth disease, axonal, type 2n, 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 are Neural Crest Differentiation and Gap junction trafficking. Affiliated tissues include eye, and related phenotypes are areflexia and pes cavus

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 D
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, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
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 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l 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:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 28.5 YARS1 PRX MPZ GJB1 GDAP1 DNM2
2 charcot-marie-tooth disease, axonal, type 2n 10.0 YARS1 GDAP1
3 charcot-marie-tooth disease x-linked recessive 4 9.9 MPZ GJB1
4 charcot-marie-tooth disease, x-linked recessive, 2 9.9 MPZ GJB1
5 autoimmune peripheral neuropathy 9.9 MPZ GJB1
6 argyll robertson pupil 9.9 MPZ GDAP1
7 abnormal pupillary function 9.9 MPZ GDAP1
8 pupil disease 9.9 MPZ GDAP1
9 charcot-marie-tooth disease, axonal, type 2a1 9.8 MPZ GDAP1
10 charcot-marie-tooth disease, axonal, type 2j 9.8 MPZ GDAP1
11 charcot-marie-tooth disease, demyelinating, type 1f 9.8 MPZ GJB1
12 charcot-marie-tooth disease, axonal, type 2l 9.8 MPZ GDAP1
13 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.8 MPZ GJB1
14 charcot-marie-tooth disease, axonal, type 2cc 9.8 MPZ GJB1
15 charcot-marie-tooth disease, axonal, type 2b2 9.8 MPZ GDAP1
16 charcot-marie-tooth disease, type 4j 9.7 PRX GDAP1
17 charcot-marie-tooth disease, dominant intermediate d 9.7 YARS1 MPZ DNM2
18 charcot-marie-tooth disease, axonal, type 2q 9.7 MPZ GJB1
19 neuropathy, hereditary motor and sensory, russe type 9.7 GDAP1 CTDP1
20 charcot-marie-tooth disease, dominant intermediate e 9.6 MPZ GDAP1 DNM2
21 waardenburg syndrome, type 4a 9.6 MPZ GJB1
22 charcot-marie-tooth disease type 2a2a 9.6 MPZ GJB1 GDAP1
23 charcot-marie-tooth disease, axonal, type 2i 9.6 MPZ GJB1 GDAP1
24 charcot-marie-tooth disease, axonal, type 2f 9.6 MPZ GJB1 GDAP1
25 charcot-marie-tooth disease type x 9.6 MPZ GJB1 GDAP1
26 hereditary neuropathies 9.6 PRX MPZ GJB1
27 hereditary motor and sensory neuropathy, type iic 9.5 MPZ GJB1 GDAP1
28 charcot-marie-tooth disease, type 4c 9.5 MPZ GJB1 GDAP1
29 motor peripheral neuropathy 9.5 GJB1 GDAP1
30 charcot-marie-tooth disease, type 4h 9.5 PRX MPZ GDAP1
31 charcot-marie-tooth disease, dominant intermediate c 9.4 YARS1 MPZ GDAP1 DNM2
32 charcot-marie-tooth disease, axonal, type 2b 9.3 MPZ GJB1 GDAP1 DNM2
33 charcot-marie-tooth disease, axonal, type 2d 9.3 YARS1 MPZ GJB1 GDAP1
34 charcot-marie-tooth disease, type 4b1 9.3 PRX MPZ GDAP1 DNM2
35 charcot-marie-tooth disease, demyelinating, type 1d 9.2 PRX MPZ GJB1 GDAP1
36 charcot-marie-tooth disease, demyelinating, type 4f 9.2 PRX MPZ GJB1 GDAP1
37 charcot-marie-tooth disease, x-linked dominant, 1 9.2 PRX MPZ GJB1 GDAP1
38 charcot-marie-tooth disease, type 4a 9.2 PRX MPZ GJB1 GDAP1
39 charcot-marie-tooth disease, demyelinating, type 1b 9.2 PRX MPZ GJB1 GDAP1
40 charcot-marie-tooth disease, demyelinating, type 1c 9.2 PRX MPZ GJB1 GDAP1
41 charcot-marie-tooth disease, demyelinating, type 1a 9.2 PRX MPZ GJB1 GDAP1
42 neuropathy, hereditary, with liability to pressure palsies 9.2 PRX MPZ GJB1 GDAP1
43 hypertrophic neuropathy of dejerine-sottas 9.2 PRX MPZ GJB1 GDAP1
44 sensory peripheral neuropathy 9.2 PRX MPZ GJB1 GDAP1
45 polyneuropathy 9.1 PRX MPZ GJB1 GDAP1
46 charcot-marie-tooth disease intermediate type 9.0 YARS1 MPZ GJB1 GDAP1 DNM2
47 charcot-marie-tooth disease, dominant intermediate b 9.0 YARS1 MPZ GJB1 GDAP1 DNM2
48 charcot-marie-tooth disease, type 4d 9.0 MPZ GJB1 GDAP1 CTDP1
49 charcot-marie-tooth disease, type 4b2 8.9 PRX MPZ GJB1 GDAP1 DNM2
50 peripheral nervous system disease 8.9 PRX MPZ GJB1 GDAP1 DNM2

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 pes cavus 31 HP:0001761
3 hyporeflexia 31 HP:0001265
4 distal amyotrophy 31 HP:0003693
5 foot dorsiflexor weakness 31 HP:0009027
6 distal muscle weakness 31 HP:0002460
7 steppage gait 31 HP:0003376
8 segmental peripheral demyelination/remyelination 31 HP:0003481
9 distal sensory impairment 31 HP:0002936
10 onion bulb formation 31 HP:0003383
11 muscle spasm 31 HP:0003394
12 axonal degeneration/regeneration 31 HP:0003378
13 segmental peripheral demyelination 31 HP:0007107

Symptoms via clinical synopsis from OMIM:

56
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
Skeletal Feet:
pes cavus

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

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Dominant Intermediate a:

40
Eye

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

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

# Title Authors PMID Year
1
Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. 56
11533914 2001
2
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
3
Charcot-Marie-Tooth disease: an intermediate form. 56
9713856 1998
4
Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. 56
4020397 1985
5
The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. 56
752065 1978
6
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. 61
28364294 2017
7
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 61
15731758 2005

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 10.96 MPZ GJB1
2
Show member pathways
10.61 GJB1 DNM2

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

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fission GO:0000266 8.62 GDAP1 DNM2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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