MCID: PRD033
MIFTS: 16

Periodic Paralysis with Later-Onset Distal Motor Neuropathy

Categories: Neuronal diseases, Metabolic 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 59

Characteristics:

Orphanet epidemiological data:

59
periodic paralysis with later-onset distal motor neuropathy
Inheritance: Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA397750
ICD10 via Orphanet 34 G72.3
ICD10 33 G72.3

Summaries for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

MalaCards based summary : Periodic Paralysis with Later-Onset Distal Motor Neuropathy is related to isolated atp synthase deficiency and sideroblastic anemia acquired. An important gene associated with Periodic Paralysis with Later-Onset Distal Motor Neuropathy is MT-ATP8 (Mitochondrially Encoded ATP Synthase Membrane Subunit 8), and among its related pathways/superpathways is 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
10.73 MT-ATP6 MT-ATP8

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-ATP6 MT-ATP8
2 mitochondrial proton-transporting ATP synthase complex GO:0005753 8.96 MT-ATP6 MT-ATP8
3 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 8.62 MT-ATP6 MT-ATP8

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-ATP6 MT-ATP8
2 ATP biosynthetic process GO:0006754 9.26 MT-ATP6 MT-ATP8
3 cristae formation GO:0042407 9.16 MT-ATP6 MT-ATP8
4 ATP synthesis coupled proton transport GO:0015986 8.96 MT-ATP6 MT-ATP8
5 mitochondrial ATP synthesis coupled proton transport GO:0042776 8.62 MT-ATP6 MT-ATP8

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 ATPase activity GO:0016887 9.16 MT-ATP6 MT-ATP8
2 transmembrane transporter activity GO:0022857 8.96 MT-ATP6 MT-ATP8
3 proton transmembrane transporter activity GO:0015078 8.62 MT-ATP6 MT-ATP8

Sources for Periodic Paralysis with Later-Onset Distal Motor Neuropathy

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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