CMTDID
MCID: CHR481
MIFTS: 32

Charcot-Marie-Tooth Disease, Dominant Intermediate D (CMTDID)

Categories: Ear diseases, Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

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

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

Name: Charcot-Marie-Tooth Disease, Dominant Intermediate D 57 13 70
Cmtdid 57 12 20 58 72
Charcot-Marie-Tooth Disease Dominant Intermediate D 12 29 6 15
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D 12 20 58
Di-Cmtd 57 12 20
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D 72
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D 39
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D 57
Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy 20
Charcot-Marie-Tooth Neuropathy Dominant Intermediate D 12
Charcot Marie Tooth Disease Dominant Intermediate 3 20

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
upper limb involvement may occur later
begins in feet and legs (peroneal distribution)
features intermediate between demyelinating cmt and axonal cmt


HPO:

31
charcot-marie-tooth disease, dominant intermediate d:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110200
OMIM® 57 607791
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C1843075
Orphanet 58 ORPHA100046
MedGen 41 C1843075
UMLS 70 C1843075

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

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease, dominant, intermediate type, D: A 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. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

MalaCards based summary : Charcot-Marie-Tooth Disease, Dominant Intermediate D, also known as cmtdid, is related to genetic motor neuron disease and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate D is MPZ (Myelin Protein Zero). Related phenotypes are areflexia and hyporeflexia

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

More information from OMIM: 607791 PS118220

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

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 D via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 genetic motor neuron disease 10.0 SH3TC2 MPZ
2 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ KIF1B
3 charcot-marie-tooth disease, dominant intermediate e 10.0 SH3TC2 MPZ
4 charcot-marie-tooth disease, axonal, type 2j 10.0 SH3TC2 MPZ
5 charcot-marie-tooth disease type x 10.0 SH3TC2 MPZ
6 charcot-marie-tooth disease, axonal, type 2l 10.0 MPZ KIF1B
7 hereditary neuropathies 10.0 SH3TC2 MPZ
8 charcot-marie-tooth disease, type 4b3 10.0 SH3TC2 MPZ
9 charcot-marie-tooth disease, demyelinating, type 4f 10.0 SH3TC2 MPZ
10 charcot-marie-tooth disease, demyelinating, type 1f 10.0 MPZ KIF1B
11 mononeuropathy 10.0 SH3TC2 MPZ
12 charcot-marie-tooth disease, axonal, type 2f 10.0 MPZ KIF1B
13 charcot-marie-tooth disease, x-linked dominant, 1 10.0 SH3TC2 MPZ
14 nerve compression syndrome 10.0 SH3TC2 MPZ
15 charcot-marie-tooth disease, type 4h 10.0 SH3TC2 MPZ
16 autosomal dominant distal hereditary motor neuronopathy 9.9 YARS1 SH3TC2
17 charcot-marie-tooth disease, type 4d 9.9 SH3TC2 MPZ
18 charcot-marie-tooth disease, type 4j 9.9 SH3TC2 MPZ
19 charcot-marie-tooth disease, type 4c 9.9 SH3TC2 MPZ
20 carpal tunnel syndrome 9.9 SH3TC2 MPZ
21 charcot-marie-tooth disease, axonal, type 2d 9.8 YARS1 SH3TC2 MPZ
22 charcot-marie-tooth disease, demyelinating, type 1b 9.8 YARS1 SH3TC2 MPZ
23 hereditary paraganglioma-pheochromocytoma syndromes 9.8 MPZ KIF1B
24 charcot-marie-tooth disease, axonal, type 2i 9.8 SH3TC2 MPZ KIF1B
25 hypertrophic neuropathy of dejerine-sottas 9.8 SH3TC2 MPZ KIF1B
26 neuropathy, hereditary, with liability to pressure palsies 9.7 TEKT3 SH3TC2 MPZ
27 charcot-marie-tooth disease, demyelinating, type 1a 9.7 TEKT3 SH3TC2 MPZ
28 polyneuropathy 9.7 SH3TC2 MPZ
29 charcot-marie-tooth disease, dominant intermediate a 9.7 YARS1 MPZ DNM2
30 charcot-marie-tooth disease, dominant intermediate c 9.7 YARS1 MPZ DNM2
31 neuropathy 9.6 SH3TC2 MPZ DNM2
32 hereditary motor and sensory neuropathy, type iic 9.6 SH3TC2 MPZ DNM2
33 charcot-marie-tooth disease, axonal, type 2b2 9.6 MPZ KIF1B DNM2
34 charcot-marie-tooth disease, type 4b1 9.6 SH3TC2 MPZ DNM2
35 charcot-marie-tooth disease, demyelinating, type 1c 9.6 SH3TC2 MPZ DNM2
36 charcot-marie-tooth disease, type 4b2 9.6 SH3TC2 MPZ DNM2
37 charcot-marie-tooth disease intermediate type 9.4 YARS1 SH3TC2 MPZ DNM2
38 charcot-marie-tooth disease, dominant intermediate b 9.4 YARS1 SH3TC2 MPZ DNM2
39 charcot-marie-tooth disease, type 4a 9.4 SH3TC2 MPZ KIF1B DNM2
40 charcot-marie-tooth disease, axonal, type 2b 9.4 SH3TC2 MPZ KIF1B DNM2
41 peripheral nervous system disease 9.3 SH3TC2 MPZ KIF1B DNM2
42 tooth disease 9.1 YARS1 SH3TC2 MPZ KIF1B DNM2
43 neuromuscular disease 9.1 YARS1 SH3TC2 MPZ KIF1B DNM2
44 charcot-marie-tooth disease, axonal, type 2e 9.1 YARS1 SH3TC2 MPZ KIF1B DNM2
45 charcot-marie-tooth disease 8.8 YARS1 TEKT3 SH3TC2 MPZ KIF1B DNM2
46 charcot-marie-tooth disease and deafness 8.8 YARS1 TEKT3 SH3TC2 MPZ KIF1B DNM2
47 neuropathy, congenital hypomyelinating, 1, autosomal recessive 8.8 YARS1 TEKT3 SH3TC2 MPZ KIF1B DNM2

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



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

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 hyporeflexia 31 HP:0001265
3 distal muscle weakness 31 HP:0002460
4 distal sensory impairment 31 HP:0002936
5 distal amyotrophy 31 HP:0003693
6 upper limb muscle weakness 31 HP:0003484
7 segmental peripheral demyelination/remyelination 31 HP:0003481
8 axonal degeneration/regeneration 31 HP:0003378

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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®:

607791 (Updated 05-Apr-2021)

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

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

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

Genetic tests related to Charcot-Marie-Tooth Disease, Dominant Intermediate D:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Dominant Intermediate D 29 MPZ

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

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

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

# Title Authors PMID Year
1
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. 6 57
10406984 1999
2
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study. 61
29136549 2018

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

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate D:

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPZ NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) SNV Pathogenic 14170 rs121913586 GRCh37: 1:161276204-161276204
GRCh38: 1:161306414-161306414
2 MPZ NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) SNV Pathogenic 549681 rs1553259707 GRCh37: 1:161276701-161276701
GRCh38: 1:161306911-161306911
3 MPZ NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) SNV Pathogenic 14183 rs121913596 GRCh37: 1:161277179-161277179
GRCh38: 1:161307389-161307389
4 MPZ NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) SNV Pathogenic 14191 rs121913603 GRCh37: 1:161276512-161276512
GRCh38: 1:161306722-161306722
5 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met) SNV Pathogenic 14181 rs121913595 GRCh37: 1:161276575-161276575
GRCh38: 1:161306785-161306785
6 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met) SNV Pathogenic 14181 rs121913595 GRCh37: 1:161276575-161276575
GRCh38: 1:161306785-161306785
7 MPZ NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) SNV Likely pathogenic 216963 rs754068936 GRCh37: 1:161276252-161276252
GRCh38: 1:161306462-161306462
8 MPZ NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) SNV Likely pathogenic 462797 rs1553259648 GRCh37: 1:161276549-161276549
GRCh38: 1:161306759-161306759
9 MPZ NM_000530.8(MPZ):c.398C>T (p.Pro133Leu) SNV Likely pathogenic 636232 rs1558154010 GRCh37: 1:161276548-161276548
GRCh38: 1:161306758-161306758
10 MPZ NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) SNV Uncertain significance 873574 GRCh37: 1:161276502-161276502
GRCh38: 1:161306712-161306712
11 MPZ NM_000530.8(MPZ):c.*341A>G SNV Uncertain significance 874466 GRCh37: 1:161275325-161275325
GRCh38: 1:161305535-161305535
12 MPZ NM_000530.8(MPZ):c.*102C>T SNV Uncertain significance 874516 GRCh37: 1:161275564-161275564
GRCh38: 1:161305774-161305774
13 MPZ NM_000530.8(MPZ):c.*522C>A SNV Uncertain significance 875383 GRCh37: 1:161275144-161275144
GRCh38: 1:161305354-161305354
14 MPZ NM_000530.8(MPZ):c.*435T>G SNV Uncertain significance 875384 GRCh37: 1:161275231-161275231
GRCh38: 1:161305441-161305441
15 MPZ NM_000530.8(MPZ):c.184A>G (p.Ile62Val) SNV Uncertain significance 875495 GRCh37: 1:161277098-161277098
GRCh38: 1:161307308-161307308
16 MPZ NM_000530.8(MPZ):c.*903G>A SNV Uncertain significance 876254 GRCh37: 1:161274763-161274763
GRCh38: 1:161304973-161304973
17 MPZ NM_000530.8(MPZ):c.*752G>A SNV Uncertain significance 876373 GRCh37: 1:161274914-161274914
GRCh38: 1:161305124-161305124
18 MPZ NM_000530.8(MPZ):c.*369C>T SNV Uncertain significance 876415 GRCh37: 1:161275297-161275297
GRCh38: 1:161305507-161305507
19 MPZ NM_000530.8(MPZ):c.*251C>G SNV Uncertain significance 293309 rs772995394 GRCh37: 1:161275415-161275415
GRCh38: 1:161305625-161305625
20 MPZ NM_000530.8(MPZ):c.*954C>A SNV Uncertain significance 293301 rs372340608 GRCh37: 1:161274712-161274712
GRCh38: 1:161304922-161304922
21 MPZ NM_000530.8(MPZ):c.*1074A>C SNV Uncertain significance 293298 rs886045471 GRCh37: 1:161274592-161274592
GRCh38: 1:161304802-161304802
22 MPZ NM_000530.8(MPZ):c.*1020G>A SNV Uncertain significance 293300 rs886045472 GRCh37: 1:161274646-161274646
GRCh38: 1:161304856-161304856
23 MPZ NM_000530.8(MPZ):c.428C>T (p.Thr143Met) SNV Uncertain significance 531684 rs750724650 GRCh37: 1:161276518-161276518
GRCh38: 1:161306728-161306728
24 MPZ NM_000530.8(MPZ):c.*4T>G SNV Uncertain significance 1030424 GRCh37: 1:161275662-161275662
GRCh38: 1:161305872-161305872
25 MPZ NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) SNV Uncertain significance 246524 rs200151353 GRCh37: 1:161277149-161277149
GRCh38: 1:161307359-161307359
26 MPZ NM_000530.8(MPZ):c.200G>A (p.Arg67His) SNV Uncertain significance 237875 rs201720099 GRCh37: 1:161277082-161277082
GRCh38: 1:161307292-161307292
27 MPZ NM_000530.8(MPZ):c.103G>C (p.Asp35His) SNV Uncertain significance 932295 GRCh37: 1:161277179-161277179
GRCh38: 1:161307389-161307389
28 MPZ NM_000530.8(MPZ):c.127G>A (p.Gly43Ser) SNV Uncertain significance 976361 GRCh37: 1:161277155-161277155
GRCh38: 1:161307365-161307365
29 MPZ NM_000530.8(MPZ):c.*681A>T SNV Uncertain significance 293306 rs886045474 GRCh37: 1:161274985-161274985
GRCh38: 1:161305195-161305195
30 MPZ NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) SNV Likely benign 246572 rs202176679 GRCh37: 1:161275906-161275906
GRCh38: 1:161306116-161306116
31 MPZ NM_000530.8(MPZ):c.504G>A (p.Val168=) SNV Likely benign 293313 rs145592910 GRCh37: 1:161276199-161276199
GRCh38: 1:161306409-161306409
32 MPZ NM_000530.8(MPZ):c.684C>T (p.Ser228=) SNV Benign 129619 rs34307129 GRCh37: 1:161275729-161275729
GRCh38: 1:161305939-161305939
33 MPZ NM_000530.8(MPZ):c.600G>A (p.Gly200=) SNV Benign 138242 rs16832790 GRCh37: 1:161275943-161275943
GRCh38: 1:161306153-161306153
34 MPZ NM_000530.8(MPZ):c.*624C>T SNV Benign 293307 rs60821801 GRCh37: 1:161275042-161275042
GRCh38: 1:161305252-161305252
35 MPZ NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) SNV Benign 293314 rs530923760 GRCh37: 1:161277205-161277205
GRCh38: 1:161307415-161307415
36 MPZ NM_000530.8(MPZ):c.*195G>T SNV Benign 293310 rs150182811 GRCh37: 1:161275471-161275471
GRCh38: 1:161305681-161305681
37 MPZ NM_000530.8(MPZ):c.*1048A>T SNV Benign 293299 rs71639057 GRCh37: 1:161274618-161274618
GRCh38: 1:161304828-161304828
38 MPZ NM_000530.8(MPZ):c.*568C>G SNV Benign 293308 rs60731755 GRCh37: 1:161275098-161275098
GRCh38: 1:161305308-161305308
39 MPZ NM_000530.8(MPZ):c.*743C>T SNV Benign 293305 rs140992541 GRCh37: 1:161274923-161274923
GRCh38: 1:161305133-161305133
40 MPZ NM_000530.8(MPZ):c.*52G>A SNV Benign 293311 rs774701563 GRCh37: 1:161275614-161275614
GRCh38: 1:161305824-161305824
41 MPZ NM_000530.8(MPZ):c.*761A>G SNV Benign 293304 rs16832786 GRCh37: 1:161274905-161274905
GRCh38: 1:161305115-161305115
42 MPZ NM_000530.8(MPZ):c.-49C>A SNV Benign 293315 rs750777955 GRCh37: 1:161279744-161279744
GRCh38: 1:161309954-161309954
43 MPZ NM_000530.8(MPZ):c.*360C>G SNV Benign 876416 GRCh37: 1:161275306-161275306
GRCh38: 1:161305516-161305516

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate D:

72
# Symbol AA change Variation ID SNP ID
1 MPZ p.Asp35Tyr VAR_015971 rs121913596

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

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

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

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

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.92 TEKT3 SH3TC2 KIF1B DNM2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....