MCID: PLZ009
MIFTS: 13

Pelizaeus-Merzbacher Disease in Female Carriers

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pelizaeus-Merzbacher Disease in Female Carriers

MalaCards integrated aliases for Pelizaeus-Merzbacher Disease in Female Carriers:

Name: Pelizaeus-Merzbacher Disease in Female Carriers 58

Characteristics:

Orphanet epidemiological data:

58
pelizaeus-merzbacher disease in female carriers
Inheritance: X-linked recessive; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Pelizaeus-Merzbacher Disease in Female Carriers

MalaCards based summary : Pelizaeus-Merzbacher Disease in Female Carriers An important gene associated with Pelizaeus-Merzbacher Disease in Female Carriers is PLP1 (Proteolipid Protein 1). Affiliated tissues include eye, and related phenotypes are hyperreflexia and developmental regression

Related Diseases for Pelizaeus-Merzbacher Disease in Female Carriers

Symptoms & Phenotypes for Pelizaeus-Merzbacher Disease in Female Carriers

Human phenotypes related to Pelizaeus-Merzbacher Disease in Female Carriers:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
2 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
3 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
4 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
5 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
6 mental deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001268
7 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
8 moderate global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011343
9 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
10 mild global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011342
11 spastic paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002313
12 nevus flammeus of the forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0007413
13 generalized-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002197
14 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
15 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
16 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
17 neurogenic bladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0000011
18 abnormal corpus callosum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001273
19 cns hypomyelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0003429
20 hyperintensity of cerebral white matter on mri 58 31 occasional (7.5%) Occasional (29-5%) HP:0030890
21 anomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0030784
22 decreased vigilance 58 31 occasional (7.5%) Occasional (29-5%) HP:0032044
23 hand apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0032588
24 hypotonia 31 occasional (7.5%) HP:0001252
25 neurological speech impairment 58 Occasional (29-5%)
26 nystagmus 58 Occasional (29-5%)
27 gait disturbance 58 Occasional (29-5%)
28 muscular hypotonia 58 Occasional (29-5%)
29 lower limb spasticity 58 Occasional (29-5%)
30 abnormality of the lower urinary tract 58 Occasional (29-5%)

Drugs & Therapeutics for Pelizaeus-Merzbacher Disease in Female Carriers

Search Clinical Trials , NIH Clinical Center for Pelizaeus-Merzbacher Disease in Female Carriers

Genetic Tests for Pelizaeus-Merzbacher Disease in Female Carriers

Anatomical Context for Pelizaeus-Merzbacher Disease in Female Carriers

MalaCards organs/tissues related to Pelizaeus-Merzbacher Disease in Female Carriers:

40
Eye

Publications for Pelizaeus-Merzbacher Disease in Female Carriers

Variations for Pelizaeus-Merzbacher Disease in Female Carriers

Expression for Pelizaeus-Merzbacher Disease in Female Carriers

Search GEO for disease gene expression data for Pelizaeus-Merzbacher Disease in Female Carriers.

Pathways for Pelizaeus-Merzbacher Disease in Female Carriers

GO Terms for Pelizaeus-Merzbacher Disease in Female Carriers

Sources for Pelizaeus-Merzbacher Disease in Female Carriers

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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