MCID: LKN018
MIFTS: 18

Leukoencephalopathy, Progressive, with Ovarian Failure

Categories: Genetic diseases

Aliases & Classifications for Leukoencephalopathy, Progressive, with Ovarian Failure

MalaCards integrated aliases for Leukoencephalopathy, Progressive, with Ovarian Failure:

Name: Leukoencephalopathy, Progressive, with Ovarian Failure 57 75 29 6 40 73
Lkenp 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset usually in young adulthood
earlier onset may occur


HPO:

32
leukoencephalopathy, progressive, with ovarian failure:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leukoencephalopathy, Progressive, with Ovarian Failure

OMIM : 57 Progressive leukoencephalopathy with ovarian failure is an autosomal recessive neurodegenerative disorder characterized by loss of motor and cognitive skills, usually with onset in young adulthood. Some patients may have a history of delayed motor development or learning difficulties in early childhood. Neurologic decline is severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most patients lose speech and become wheelchair-bound or bedridden. Brain MRI shows progressive white matter signal abnormalities in the deep white matter. Affected females develop premature ovarian failure (summary by Dallabona et al., 2014). (615889)

MalaCards based summary : Leukoencephalopathy, Progressive, with Ovarian Failure, is also known as lkenp, and has symptoms including ataxia, muscle spasticity and tremor. An important gene associated with Leukoencephalopathy, Progressive, with Ovarian Failure is AARS2 (Alanyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include brain, and related phenotypes are nystagmus and depressivity

UniProtKB/Swiss-Prot : 75 Leukoencephalopathy, progressive, with ovarian failure: An autosomal recessive neurodegenerative disorder characterized by childhood- to adulthood-onset of signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Brain MRI shows leukoencephalopathy with striking involvement of deep white matter, and cerebellar atrophy. All female patients develop premature ovarian failure.

Related Diseases for Leukoencephalopathy, Progressive, with Ovarian Failure

Symptoms & Phenotypes for Leukoencephalopathy, Progressive, with Ovarian Failure

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Neurologic Behavioral Psychiatric Manifestations:
depression
executive dysfunction
behavioral abnormalities

Muscle Soft Tissue:
isolated mitochondrial complex iv deficiency seen on biopsy

Neurologic Central Nervous System:
ataxia
spasticity
dysarthria
tremor
dystonia
more
Endocrine Features:
premature ovarian failure


Clinical features from OMIM:

615889

Human phenotypes related to Leukoencephalopathy, Progressive, with Ovarian Failure:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 depressivity 32 HP:0000716
3 ataxia 32 HP:0001251
4 spasticity 32 HP:0001257
5 dysarthria 32 HP:0001260
6 tremor 32 HP:0001337
7 premature ovarian insufficiency 32 HP:0008209
8 dystonia 32 HP:0001332
9 apraxia 32 HP:0002186
10 neurodegeneration 32 HP:0002180
11 dementia 32 HP:0000726
12 cerebellar atrophy 32 occasional (7.5%) HP:0001272
13 periventricular leukomalacia 32 HP:0006970
14 loss of speech 32 HP:0002371
15 progressive leukoencephalopathy 32 HP:0006980

UMLS symptoms related to Leukoencephalopathy, Progressive, with Ovarian Failure:


ataxia, muscle spasticity, tremor

Drugs & Therapeutics for Leukoencephalopathy, Progressive, with Ovarian Failure

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy, Progressive, with Ovarian Failure

Genetic Tests for Leukoencephalopathy, Progressive, with Ovarian Failure

Genetic tests related to Leukoencephalopathy, Progressive, with Ovarian Failure:

# Genetic test Affiliating Genes
1 Leukoencephalopathy, Progressive, with Ovarian Failure 29 AARS2

Anatomical Context for Leukoencephalopathy, Progressive, with Ovarian Failure

MalaCards organs/tissues related to Leukoencephalopathy, Progressive, with Ovarian Failure:

41
Brain

Publications for Leukoencephalopathy, Progressive, with Ovarian Failure

Variations for Leukoencephalopathy, Progressive, with Ovarian Failure

UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy, Progressive, with Ovarian Failure:

75
# Symbol AA change Variation ID SNP ID
1 AARS2 p.Phe50Cys VAR_071837 rs587777590
2 AARS2 p.Glu405Lys VAR_071841 rs587777592
3 AARS2 p.Gly965Arg VAR_071843 rs543267101

ClinVar genetic disease variations for Leukoencephalopathy, Progressive, with Ovarian Failure:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AARS2 NM_020745.3(AARS2): c.647dupG (p.Cys218Leufs) duplication Pathogenic rs587777589 GRCh37 Chromosome 6, 44278833: 44278833
2 AARS2 NM_020745.3(AARS2): c.647dupG (p.Cys218Leufs) duplication Pathogenic rs587777589 GRCh38 Chromosome 6, 44311096: 44311096
3 AARS2 NM_020745.3(AARS2): c.149T> G (p.Phe50Cys) single nucleotide variant Pathogenic rs587777590 GRCh37 Chromosome 6, 44280912: 44280912
4 AARS2 NM_020745.3(AARS2): c.149T> G (p.Phe50Cys) single nucleotide variant Pathogenic rs587777590 GRCh38 Chromosome 6, 44313175: 44313175
5 AARS2 NM_020745.3(AARS2): c.1561C> T (p.Arg521Ter) single nucleotide variant Pathogenic rs587777591 GRCh37 Chromosome 6, 44272809: 44272809
6 AARS2 NM_020745.3(AARS2): c.1561C> T (p.Arg521Ter) single nucleotide variant Pathogenic rs587777591 GRCh38 Chromosome 6, 44305072: 44305072
7 AARS2 NM_020745.3(AARS2): c.2893G> A (p.Gly965Arg) single nucleotide variant Pathogenic rs543267101 GRCh37 Chromosome 6, 44268349: 44268349
8 AARS2 NM_020745.3(AARS2): c.2893G> A (p.Gly965Arg) single nucleotide variant Pathogenic rs543267101 GRCh38 Chromosome 6, 44300612: 44300612
9 AARS2 NM_020745.3(AARS2): c.1213G> A (p.Glu405Lys) single nucleotide variant Pathogenic rs587777592 GRCh37 Chromosome 6, 44274104: 44274104
10 AARS2 NM_020745.3(AARS2): c.1213G> A (p.Glu405Lys) single nucleotide variant Pathogenic rs587777592 GRCh38 Chromosome 6, 44306367: 44306367

Expression for Leukoencephalopathy, Progressive, with Ovarian Failure

Search GEO for disease gene expression data for Leukoencephalopathy, Progressive, with Ovarian Failure.

Pathways for Leukoencephalopathy, Progressive, with Ovarian Failure

GO Terms for Leukoencephalopathy, Progressive, with Ovarian Failure

Sources for Leukoencephalopathy, Progressive, with Ovarian Failure

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69 SNOMED-CT via HPO
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71 TGDB
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73 UMLS
74 UMLS via Orphanet
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