MCID: NNP016
MIFTS: 15

Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Non-Progressive Predominantly Posterior Cavitating...

MalaCards integrated aliases for Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy:

Name: Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Non-Progressive Predominantly Posterior Cavitating...

MalaCards based summary : Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy An important gene associated with Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy is COA8 (Cytochrome C Oxidase Assembly Factor 8). Affiliated tissues include brain, skeletal muscle and liver, and related phenotypes are progressive peripheral neuropathy and progressive leukoencephalopathy

Related Diseases for Non-Progressive Predominantly Posterior Cavitating...

Symptoms & Phenotypes for Non-Progressive Predominantly Posterior Cavitating...

Human phenotypes related to Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007133
2 progressive leukoencephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006980
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
6 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
7 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
8 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
9 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
10 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
11 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
12 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
13 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
14 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
15 aminoaciduria 58 31 frequent (33%) Frequent (79-30%) HP:0003355
16 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
17 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
18 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
19 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
20 increased csf lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002490
21 lactic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0003128
22 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
23 fatigable weakness of swallowing muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030195
24 pigmentary retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000580
25 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
26 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
27 excessive daytime somnolence 58 31 frequent (33%) Frequent (79-30%) HP:0001262
28 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
29 glycosuria 58 31 frequent (33%) Frequent (79-30%) HP:0003076
30 renal fanconi syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0001994
31 decreased liver function 58 31 frequent (33%) Frequent (79-30%) HP:0001410
32 hyperphosphaturia 58 31 frequent (33%) Frequent (79-30%) HP:0003109
33 diffuse hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0006555
34 skeletal muscle steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0040291
35 seizure 31 frequent (33%) HP:0001250
36 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
37 spastic tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001285
38 seizures 58 Frequent (79-30%)
39 renal tubular dysfunction 58 Frequent (79-30%)

Drugs & Therapeutics for Non-Progressive Predominantly Posterior Cavitating...

Search Clinical Trials , NIH Clinical Center for Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy

Genetic Tests for Non-Progressive Predominantly Posterior Cavitating...

Anatomical Context for Non-Progressive Predominantly Posterior Cavitating...

MalaCards organs/tissues related to Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy:

40
Brain, Skeletal Muscle, Liver

Publications for Non-Progressive Predominantly Posterior Cavitating...

Variations for Non-Progressive Predominantly Posterior Cavitating...

Expression for Non-Progressive Predominantly Posterior Cavitating...

Search GEO for disease gene expression data for Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy.

Pathways for Non-Progressive Predominantly Posterior Cavitating...

GO Terms for Non-Progressive Predominantly Posterior Cavitating...

Sources for Non-Progressive Predominantly Posterior Cavitating...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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