MCID: NNP016
MIFTS: 17

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 59

Characteristics:

Orphanet epidemiological data:

59

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 APOPT1 (Apoptogenic 1, Mitochondrial). Affiliated tissues include liver and skeletal muscle, and related phenotypes are ptosis and intellectual disability

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:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
5 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
6 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
7 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
10 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
11 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
12 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
13 renal tubular dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0000124
14 vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002013
15 aminoaciduria 59 32 frequent (33%) Frequent (79-30%) HP:0003355
16 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
17 respiratory insufficiency due to muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002747
18 generalized muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003324
19 decreased liver function 59 32 frequent (33%) Frequent (79-30%) HP:0001410
20 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
21 lactic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0003128
22 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
23 fatigable weakness of swallowing muscles 59 32 frequent (33%) Frequent (79-30%) HP:0030195
24 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
25 spastic tetraparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001285
26 exertional dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002875
27 excessive daytime somnolence 59 32 frequent (33%) Frequent (79-30%) HP:0001262
28 glycosuria 59 32 frequent (33%) Frequent (79-30%) HP:0003076
29 pigmentary retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0000580
30 increased csf lactate 59 32 frequent (33%) Frequent (79-30%) HP:0002490
31 bilateral sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0008619
32 renal fanconi syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0001994
33 hyperphosphaturia 59 32 frequent (33%) Frequent (79-30%) HP:0003109
34 progressive peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007133
35 progressive leukoencephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006980
36 diffuse hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0006555
37 skeletal muscle steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0040291
38 abnormal pyramidal signs 59 Frequent (79-30%)
39 abnormal pyramidal sign 32 frequent (33%) HP:0007256

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:

41
Liver, 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 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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