Visit Metagene.de!
Summary
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
NEMMLAS
617710
OMIM = Online Medalian Inheritance of Men
88616
1p12
very rare
autosomal recessive
mutation in the WARS2 gene
symptoms
abnormal movement
ataxia
behavior. aggressive
cardiomyopathy
cerebral atrophy
defect of walking, running, rising or climbing
dystonia
epilepsy
feeding difficulties, poor feeding
hyperreflexia
hypoglycemia
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
intrauterine growth retardation
lactic acidosis
leukoencephalopathy
microcephaly (<2 SD for age)
muscle atrophy
muscle weakness
myelination, incomplete, hypomyelination
nystagmus
onset, infancy
optic atrophy
periventricular white matter changes
psychomotor retardation
retinitis pigmentosa
seizures
speech development, delayed, abnormal
strabismus
swallowing difficulties
laboratory finding
MRI, brain, abnormalities -
L-Lactic acid mmol/lplasma
D-Glucose mmol/lplasma
Literature
Tong A,et al.A Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushings Syndrome.J Clin Endocrinol Metab101114290-42972016
Torpy DJ,et al.Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) geneJ Clin Endocrinol Metab8393214-32181998
Aglony M,et al.Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentationHypertension5761117-11212011
Mulatero P,et al.Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigreeJ Clin Endocrinol Metab8773187-31912002
Mulatero P,et al.Is familial hyperaldosteronism underdiagnosed in hypertensive children?Hypertension5761053-10552011
Lafferty AR,et al.A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)J Med Genet3711831-8352000
Gomez-Sanchez CE,et al.Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3Mol Cell Endocrinol439074-802017