MCID: CHR481
MIFTS: 20

Charcot-Marie-Tooth Disease, Dominant Intermediate D

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Metabolic 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 73
Cmtdid 57 12 53 59 75
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D 12 53 59
Di-Cmtd 57 12 53
Charcot-Marie-Tooth Disease Dominant Intermediate D 12 15
Charcot-Marie-Tooth Disease Dominant Intermediate 3 29 6
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D 75
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D 40
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D 57
Mpz-Related Intermediate Charcot-Marie-Tooth Neuropathy 53
Charcot-Marie-Tooth Neuropathy Dominant Intermediate D 12
Charcot Marie Tooth Disease Dominant Intermediate 3 53

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
charcot-marie-tooth disease, dominant intermediate d:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607791
Disease Ontology 12 DOID:0110200
ICD10 33 G60.0
Orphanet 59 ORPHA100046
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1843075
MedGen 42 C1843075
MeSH 44 D002607
UMLS 73 C1843075

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

UniProtKB/Swiss-Prot : 75 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 hyporeflexia and areflexia

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
hyporeflexia
areflexia
distal sensory impairment
more

Clinical features from OMIM:

607791

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 areflexia 32 HP:0001284
3 distal muscle weakness 32 HP:0002460
4 distal sensory impairment 32 HP:0002936
5 axonal degeneration/regeneration 32 HP:0003378
6 segmental peripheral demyelination/remyelination 32 HP:0003481
7 upper limb muscle weakness 32 HP:0003484
8 distal amyotrophy 32 HP:0003693

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 29 MPZ

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

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

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

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

75
# 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
# 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.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh38 Chromosome 1, 161306462: 161306462
4 MPZ NM_000530.7(MPZ): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs754068936 GRCh37 Chromosome 1, 161276252: 161276252

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
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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