MCID: CHR152
MIFTS: 14

Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Categories: Neuronal diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

MalaCards integrated aliases for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism:

Name: Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 58 77

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant, also other autosomal dominant forms, as well as autosomal recessive, and x-linked forms


HPO:

33
charcot-marie-tooth disease with ptosis and parkinsonism:
Inheritance x-linked inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

MalaCards based summary : Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism Affiliated tissues include heart and spinal cord, and related phenotypes are ptosis and hyperhidrosis

Wikipedia : 77 Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of... more...

Description from OMIM: 118301

Related Diseases for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Human phenotypes related to Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 hyperhidrosis 33 HP:0000975
3 hyperreflexia 33 HP:0001347
4 vomiting 33 HP:0002013
5 atrioventricular block 33 HP:0001678
6 sensory neuropathy 33 HP:0000763
7 decreased nerve conduction velocity 33 HP:0000762
8 pes cavus 33 HP:0001761
9 reduced tendon reflexes 33 HP:0001315
10 dementia 33 HP:0000726
11 chronic diarrhea 33 HP:0002028
12 peroneal muscle atrophy 33 HP:0009049
13 abnormal atrioventricular conduction 33 HP:0005150
14 orthostatic hypotension 33 HP:0001278
15 nausea 33 HP:0002018
16 parkinsonism 33 HP:0001300
17 gliosis 33 HP:0002171
18 central hypoventilation 33 HP:0007110
19 distal amyotrophy 33 HP:0003693
20 axonal loss 33 HP:0003447
21 degeneration of anterior horn cells 33 HP:0002398
22 chronic sensorineural polyneuropathy 33 HP:0001301
23 penetrating foot ulcers 33 HP:0001026
24 trophic limb changes 33 HP:0003091
25 enhanced neurotoxicity of vincristine 33 HP:0003009
26 peroneal muscle weakness 33 HP:0011727

Symptoms via clinical synopsis from OMIM:

58
Neuro:
ptosis
hyperreflexia
dementia
orthostatic hypotension
parkinsonism
more
G I:
vomiting
chronic diarrhea
nausea

Cardiac:
heart block

Oncology:
enhanced neurotoxicity of vincristine

Lab:
normal or slightly reduced nerve conduction velocity
axonal loss with little evidence of demyelination or hypertrophic changes in nerve biopsies
mild to moderate loss of anterior horn cells in the spinal cord and substantia nigral pigmentary loss with gliosis

Skin:
hyperhidrosis
penetrating foot ulcers

Limbs:
pes cavus
trophic limb changes

Muscle:
peroneal muscle atrophy and weakness
distal arm and leg muscle atrophy and weakness

Misc:
more severe in homozygotes

Clinical features from OMIM:

118301

Drugs & Therapeutics for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Genetic Tests for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Anatomical Context for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism:

42
Heart, Spinal Cord

Publications for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Variations for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Expression for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism.

Pathways for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

GO Terms for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

Sources for Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism

3 CDC
7 CNVD
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
38 KEGG
39 LifeMap
41 LOVD
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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