MCID: MTR078
MIFTS: 14

Motor Neuropathy, Peripheral, with Dysautonomia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Motor Neuropathy, Peripheral, with Dysautonomia

MalaCards integrated aliases for Motor Neuropathy, Peripheral, with Dysautonomia:

Name: Motor Neuropathy, Peripheral, with Dysautonomia 56
Peripheral Motor Neuropathy-Dysautonomia Syndrome 58
Motor Neuropathy Peripheral with Dysautonomia 71
Lisker-Garcia-Ramos Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
motor neuropathy, peripheral, with dysautonomia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 252320
MESH via Orphanet 44 C536988
UMLS via Orphanet 72 C1854961
Orphanet 58 ORPHA2400
MedGen 41 C1854961
UMLS 71 C1854961

Summaries for Motor Neuropathy, Peripheral, with Dysautonomia

MalaCards based summary : Motor Neuropathy, Peripheral, with Dysautonomia, is also known as peripheral motor neuropathy-dysautonomia syndrome. Affiliated tissues include skeletal muscle, and related phenotypes are joint stiffness and hyperhidrosis

More information from OMIM: 252320

Related Diseases for Motor Neuropathy, Peripheral, with Dysautonomia

Symptoms & Phenotypes for Motor Neuropathy, Peripheral, with Dysautonomia

Human phenotypes related to Motor Neuropathy, Peripheral, with Dysautonomia:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
3 acrocyanosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001063
4 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 achalasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002571
7 hyporeflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001265
8 peripheral neuropathy 31 HP:0009830
9 decreased nerve conduction velocity 31 HP:0000762
10 orthostatic hypotension 31 HP:0001278
11 cyanosis 31 HP:0000961
12 progressive muscle weakness 31 HP:0003323
13 peripheral demyelination 31 HP:0011096

Symptoms via clinical synopsis from OMIM:

56
Neuro:
orthostatic hypotension
autonomic dysfunction

Skin:
profuse sweating
distal cyanosis related to cold

Lab:
slow nerve conduction velocity
nonspecific sural nerve demyelination

Muscle:
progressive muscle weakness
muscle hypotrophy

G I:
esophageal achalasia

Clinical features from OMIM:

252320

Drugs & Therapeutics for Motor Neuropathy, Peripheral, with Dysautonomia

Search Clinical Trials , NIH Clinical Center for Motor Neuropathy, Peripheral, with Dysautonomia

Genetic Tests for Motor Neuropathy, Peripheral, with Dysautonomia

Anatomical Context for Motor Neuropathy, Peripheral, with Dysautonomia

MalaCards organs/tissues related to Motor Neuropathy, Peripheral, with Dysautonomia:

40
Skeletal Muscle

Publications for Motor Neuropathy, Peripheral, with Dysautonomia

Articles related to Motor Neuropathy, Peripheral, with Dysautonomia:

# Title Authors PMID Year
1
Peripheral motor neuropathy associated with autonomic dysfunction in two sisters: new hereditary syndrome? 56
7282784 1981

Variations for Motor Neuropathy, Peripheral, with Dysautonomia

Expression for Motor Neuropathy, Peripheral, with Dysautonomia

Search GEO for disease gene expression data for Motor Neuropathy, Peripheral, with Dysautonomia.

Pathways for Motor Neuropathy, Peripheral, with Dysautonomia

GO Terms for Motor Neuropathy, Peripheral, with Dysautonomia

Sources for Motor Neuropathy, Peripheral, with Dysautonomia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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