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 60

Characteristics:

Orphanet epidemiological data:

60

Classifications:



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 skeletal muscle, 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:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0007133
2 progressive leukoencephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0006980
3 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
4 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
5 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
6 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
7 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
8 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
9 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
10 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
11 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
12 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
13 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
14 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
15 proteinuria 60 33 frequent (33%) Frequent (79-30%) HP:0000093
16 renal tubular dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0000124
17 aminoaciduria 60 33 frequent (33%) Frequent (79-30%) HP:0003355
18 hypertrophic cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001639
19 respiratory insufficiency due to muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002747
20 generalized muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003324
21 decreased liver function 60 33 frequent (33%) Frequent (79-30%) HP:0001410
22 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
23 lactic acidosis 60 33 frequent (33%) Frequent (79-30%) HP:0003128
24 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
25 fatigable weakness of swallowing muscles 60 33 frequent (33%) Frequent (79-30%) HP:0030195
26 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
27 excessive daytime somnolence 60 33 frequent (33%) Frequent (79-30%) HP:0001262
28 exertional dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002875
29 glycosuria 60 33 frequent (33%) Frequent (79-30%) HP:0003076
30 diffuse hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0006555
31 pigmentary retinopathy 60 33 frequent (33%) Frequent (79-30%) HP:0000580
32 renal fanconi syndrome 60 33 frequent (33%) Frequent (79-30%) HP:0001994
33 bilateral sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0008619
34 increased csf lactate 60 33 frequent (33%) Frequent (79-30%) HP:0002490
35 hyperphosphaturia 60 33 frequent (33%) Frequent (79-30%) HP:0003109
36 skeletal muscle steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0040291
37 vomiting 60 33 occasional (7.5%) Occasional (29-5%) HP:0002013
38 spastic tetraparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001285

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:

42
Skeletal Muscle

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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