MCID: CHR152
MIFTS: 16

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 57
Charcotmarietooth Disease with Ptosis and Parkinsonism 76

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant, also other autosomal dominant forms, as well as autosomal recessive, and x-linked forms


HPO:

32
charcot-marie-tooth disease with ptosis and parkinsonism:
Inheritance x-linked inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



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

MalaCards based summary : Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism, is also known as charcotmarietooth disease with ptosis and parkinsonism. Affiliated tissues include heart and spinal cord, and related phenotypes are ptosis and hyperhidrosis

Wikipedia : 76 Charcot�??Marie�??Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group... 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 hyperhidrosis 32 HP:0000975
3 hyperreflexia 32 HP:0001347
4 vomiting 32 HP:0002013
5 atrioventricular block 32 HP:0001678
6 sensory neuropathy 32 HP:0000763
7 decreased nerve conduction velocity 32 HP:0000762
8 pes cavus 32 HP:0001761
9 reduced tendon reflexes 32 HP:0001315
10 dementia 32 HP:0000726
11 chronic diarrhea 32 HP:0002028
12 peroneal muscle atrophy 32 HP:0009049
13 abnormal atrioventricular conduction 32 HP:0005150
14 orthostatic hypotension 32 HP:0001278
15 parkinsonism 32 HP:0001300
16 central hypoventilation 32 HP:0007110
17 distal amyotrophy 32 HP:0003693
18 gliosis 32 HP:0002171
19 nausea 32 HP:0002018
20 axonal loss 32 HP:0003447
21 chronic sensorineural polyneuropathy 32 HP:0001301
22 degeneration of anterior horn cells 32 HP:0002398
23 penetrating foot ulcers 32 HP:0001026
24 trophic limb changes 32 HP:0003091
25 enhanced neurotoxicity of vincristine 32 HP:0003009
26 peroneal muscle weakness 32 HP:0011727

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:

41
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 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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