MCID: NRD036
MIFTS: 16

Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

MalaCards integrated aliases for Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures:

Name: Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures 57 75 6
Nemmlas 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype and severity
onset in early infancy


Classifications:



External Ids:

OMIM 57 617710
MeSH 44 D028361

Summaries for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures: An autosomal recessive, mitochondrial disorder with a broad phenotypic spectrum ranging from severe neonatal lactic acidosis, encephalomyopathy and early death to an attenuated course with milder manifestations. Clinical features include delayed psychomotor development, intellectual disability, hypotonia, dystonia, ataxia, and spasticity. Severe combined respiratory chain deficiency may be found in severely affected individuals.

MalaCards based summary : Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures, is also known as nemmlas. An important gene associated with Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures is WARS2 (Tryptophanyl TRNA Synthetase 2, Mitochondrial).

OMIM : 57 NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017). (617710)

Related Diseases for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

Symptoms & Phenotypes for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
amblyopia
exotropia
more
Muscle Soft Tissue:
muscle weakness
limb hypertonia
muscle atrophy
axial hypotonia

Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding
impaired swallowing

Cardiovascular Heart:
cardiomyopathy (1 patient)

Neurologic Central Nervous System:
ataxia
hyperreflexia
hypertonia
absent speech
dysmetria
more
Laboratory Abnormalities:
hypoglycemia
increased serum lactate
defects in mitochondrial oxidative phosphorylation (oxphos) activity (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Growth Other:
intrauterine growth retardation (iugr)


Clinical features from OMIM:

617710

Drugs & Therapeutics for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures

Genetic Tests for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

Anatomical Context for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

Publications for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

Variations for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures:

75
# Symbol AA change Variation ID SNP ID
1 WARS2 p.Trp13Gly VAR_078435 rs139548132
2 WARS2 p.Gly45Val VAR_079734
3 WARS2 p.Val178Leu VAR_079737
4 WARS2 p.Lys313Met VAR_079738 rs145867327
5 WARS2 p.Val349Leu VAR_079739

ClinVar genetic disease variations for Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 WARS2 NM_015836.3(WARS2): c.325delA (p.Ser109Alafs) deletion Pathogenic GRCh38 Chromosome 1, 119076373: 119076373
2 WARS2 NM_015836.3(WARS2): c.325delA (p.Ser109Alafs) deletion Pathogenic GRCh37 Chromosome 1, 119618996: 119618996
3 WARS2 NM_015836.3(WARS2): c.37T> G (p.Trp13Gly) single nucleotide variant Pathogenic rs139548132 GRCh37 Chromosome 1, 119683231: 119683231
4 WARS2 NM_015836.3(WARS2): c.37T> G (p.Trp13Gly) single nucleotide variant Pathogenic rs139548132 GRCh38 Chromosome 1, 119140608: 119140608
5 WARS2 NM_015836.3(WARS2): c.298_300delCTT (p.Leu100del) deletion Uncertain significance rs772867219 GRCh38 Chromosome 1, 119076398: 119076400
6 WARS2 NM_015836.3(WARS2): c.298_300delCTT (p.Leu100del) deletion Uncertain significance rs772867219 GRCh37 Chromosome 1, 119619021: 119619023
7 WARS2 NM_015836.3(WARS2): c.938A> T (p.Lys313Met) single nucleotide variant Uncertain significance rs145867327 GRCh38 Chromosome 1, 119033056: 119033056
8 WARS2 NM_015836.3(WARS2): c.938A> T (p.Lys313Met) single nucleotide variant Uncertain significance rs145867327 GRCh37 Chromosome 1, 119575679: 119575679
9 WARS2 NM_015836.3(WARS2): c.797delC (p.Pro266Argfs) deletion Uncertain significance rs746478253 GRCh38 Chromosome 1, 119033197: 119033197
10 WARS2 NM_015836.3(WARS2): c.797delC (p.Pro266Argfs) deletion Uncertain significance rs746478253 GRCh37 Chromosome 1, 119575820: 119575820
11 WARS2 NM_015836.3(WARS2): c.134G> T (p.Gly45Val) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 119619187: 119619187
12 WARS2 NM_015836.3(WARS2): c.134G> T (p.Gly45Val) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 119076564: 119076564
13 WARS2 NM_015836.3(WARS2): c.532G> C (p.Val178Leu) single nucleotide variant Pathogenic rs912133959 GRCh37 Chromosome 1, 119576820: 119576820
14 WARS2 NM_015836.3(WARS2): c.532G> C (p.Val178Leu) single nucleotide variant Pathogenic rs912133959 GRCh38 Chromosome 1, 119034197: 119034197

Expression for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

Search GEO for disease gene expression data for Neurodevelopmental Disorder, Mitochondrial, with Abnormal Movements and Lactic Acidosis, with or Without Seizures.

Pathways for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

GO Terms for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

Sources for Neurodevelopmental Disorder, Mitochondrial, with Abnormal...

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