CMTDID
MCID: CHR481
MIFTS: 20

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

Categories: Genetic diseases, Metabolic 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 58 13 74
Cmtdid 58 12 54 60 76
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D 12 54 60
Di-Cmtd 58 12 54
Charcot-Marie-Tooth Disease Dominant Intermediate D 12 15
Charcot-Marie-Tooth Disease Dominant Intermediate 3 30 6
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D 76
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D 41
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D 58
Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy 54
Charcot-Marie-Tooth Neuropathy Dominant Intermediate D 12
Charcot Marie Tooth Disease Dominant Intermediate 3 54

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
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:

33
charcot-marie-tooth disease, dominant intermediate d:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110200
OMIM 58 607791
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1843075
Orphanet 60 ORPHA100046
MedGen 43 C1843075
UMLS 74 C1843075

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

UniProtKB/Swiss-Prot : 76 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, is also known as cmtdid. 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.

Description from OMIM: 607791

Related Diseases for 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 areflexia 33 HP:0001284
2 hyporeflexia 33 HP:0001265
3 upper limb muscle weakness 33 HP:0003484
4 distal muscle weakness 33 HP:0002460
5 distal amyotrophy 33 HP:0003693
6 segmental peripheral demyelination/remyelination 33 HP:0003481
7 distal sensory impairment 33 HP:0002936
8 axonal degeneration/regeneration 33 HP:0003378

Symptoms via clinical synopsis from OMIM:

58
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

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 3 30 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 Year
1
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. ( 10406984 )
1999

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

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

76
# Symbol AA change Variation ID SNP ID
1 MPZ p.Asp35Tyr VAR_015971 rs121913596

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh37 Chromosome 1, 161276204: 161276204
2 MPZ NM_000530.7(MPZ): c.499G> C (p.Gly167Arg) single nucleotide variant Pathogenic rs121913586 GRCh38 Chromosome 1, 161306414: 161306414
3 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh37 Chromosome 1, 161276575: 161276575
4 MPZ NM_000530.7(MPZ): c.371C> T (p.Thr124Met) single nucleotide variant Pathogenic rs121913595 GRCh38 Chromosome 1, 161306785: 161306785
5 MPZ NM_000530.7(MPZ): c.103G> T (p.Asp35Tyr) single nucleotide variant Uncertain significance rs121913596 GRCh37 Chromosome 1, 161277179: 161277179
6 MPZ NM_000530.7(MPZ): c.103G> T (p.Asp35Tyr) single nucleotide variant Uncertain significance rs121913596 GRCh38 Chromosome 1, 161307389: 161307389
7 MPZ NM_000530.6(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh37 Chromosome 1, 161276512: 161276512
8 MPZ NM_000530.6(MPZ): c.434A> C (p.Tyr145Ser) single nucleotide variant Pathogenic rs121913603 GRCh38 Chromosome 1, 161306722: 161306722
9 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 161306462: 161306462
10 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 161276252: 161276252
11 MPZ NM_000530.6(MPZ): c.133C> T (p.Arg45Trp) single nucleotide variant Uncertain significance rs200151353 GRCh37 Chromosome 1, 161277149: 161277149
12 MPZ NM_000530.6(MPZ): c.133C> T (p.Arg45Trp) single nucleotide variant Uncertain significance rs200151353 GRCh38 Chromosome 1, 161307359: 161307359
13 MPZ NM_000530.7(MPZ): c.397C> A (p.Pro133Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1553259648 GRCh37 Chromosome 1, 161276549: 161276549
14 MPZ NM_000530.7(MPZ): c.397C> A (p.Pro133Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1553259648 GRCh38 Chromosome 1, 161306759: 161306759
15 MPZ NM_000530.7(MPZ): c.245A> G (p.Tyr82Cys) single nucleotide variant Pathogenic rs1553259707 GRCh37 Chromosome 1, 161276701: 161276701
16 MPZ NM_000530.7(MPZ): c.245A> G (p.Tyr82Cys) single nucleotide variant Pathogenic rs1553259707 GRCh38 Chromosome 1, 161306911: 161306911

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

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

3 CDC
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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
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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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