MCID: PRD033
MIFTS: 14

Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

MalaCards integrated aliases for Periodic Paralysis with Later-Onset Distal Motor Neuropathy:

Name: Periodic Paralysis with Later-Onset Distal Motor Neuropathy 58

Characteristics:

Orphanet epidemiological data:

58
periodic paralysis with later-onset distal motor neuropathy
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 G72.3
Orphanet 58 ORPHA397750

Summaries for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

MalaCards based summary : Periodic Paralysis with Later-Onset Distal Motor Neuropathy is related to neuropathy and isolated atp synthase deficiency. An important gene associated with Periodic Paralysis with Later-Onset Distal Motor Neuropathy is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6), and among its related pathways/superpathways are Prion disease and purine nucleotides de novo biosynthesis.

Related Diseases for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Graphical network of the top 20 diseases related to Periodic Paralysis with Later-Onset Distal Motor Neuropathy:



Diseases related to Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Symptoms & Phenotypes for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Drugs & Therapeutics for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Search Clinical Trials , NIH Clinical Center for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Genetic Tests for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Anatomical Context for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Publications for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Variations for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Expression for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Search GEO for disease gene expression data for Periodic Paralysis with Later-Onset Distal Motor Neuropathy.

Pathways for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Pathways related to Periodic Paralysis with Later-Onset Distal Motor Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 MT-ATP8 MT-ATP6
2
Show member pathways
10.73 MT-ATP8 MT-ATP6

GO Terms for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Cellular components related to Periodic Paralysis with Later-Onset Distal Motor Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.16 MT-ATP8 MT-ATP6
2 mitochondrial proton-transporting ATP synthase complex GO:0005753 8.96 MT-ATP8 MT-ATP6
3 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 8.62 MT-ATP8 MT-ATP6

Biological processes related to Periodic Paralysis with Later-Onset Distal Motor Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.32 MT-ATP8 MT-ATP6
2 ATP biosynthetic process GO:0006754 9.26 MT-ATP8 MT-ATP6
3 cristae formation GO:0042407 9.16 MT-ATP8 MT-ATP6
4 ATP synthesis coupled proton transport GO:0015986 8.96 MT-ATP8 MT-ATP6
5 mitochondrial ATP synthesis coupled proton transport GO:0042776 8.62 MT-ATP8 MT-ATP6

Molecular functions related to Periodic Paralysis with Later-Onset Distal Motor Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP8 MT-ATP6
2 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 8.62 MT-ATP8 MT-ATP6

Sources for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....