ORPHA:68385
Neurometabolic disease
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurometabolic disease | |
| fr | Maladie neurométabolique | |
| de | Neurometabolische Krankheit | |
| es | Enfermedad neurometabólica | |
| it | Malattia neurometabolica | |
| nl | Neurometabole ziekte | |
| pt | Doença neurometabólica | |
| pl | Choroba neurometaboliczna | |
| cs | Neurometabolické onemocnění | |
| uk | Нейрометаболічні захворювання | |
| zh | 神经代谢疾病 | |
| tr | Nörometabolik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 19058 | E | validated | |
| UMLS | C5681332 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:98006Rare neurologic disease
rare neurological diseases
Children (291):
- ORPHA:6562791p36.33 duplication syndrome
- ORPHA:791542-aminoadipic 2-oxoadipic aciduria
- ORPHA:192-hydroxyglutaric aciduria
- ORPHA:791572-methylbutyryl-CoA dehydrogenase deficiency
- ORPHA:1636932p21 microdeletion syndrome
- ORPHA:9393-hydroxyisobutyric aciduria
- ORPHA:670463-methylglutaconic aciduria type 1
- ORPHA:670473-methylglutaconic aciduria type 3
- ORPHA:670483-methylglutaconic aciduria type 4
- ORPHA:5052083-methylglutaconic aciduria type 8
- ORPHA:5052163-methylglutaconic aciduria type 9
- ORPHA:4450383-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- ORPHA:250977AICA-ribosiduria
- ORPHA:14Abetalipoproteinemia
- ORPHA:615964Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
- ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency
- ORPHA:45Adenosine monophosphate deaminase deficiency
- ORPHA:46Adenylosuccinate lyase deficiency
- ORPHA:773Adult Refsum disease
- ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- ORPHA:502444Alkaline ceramidase 3 deficiency
- ORPHA:726Alpers-Huttenlocher syndrome
- ORPHA:3137Alpha-N-acetylgalactosaminidase deficiency
- ORPHA:61Alpha-mannosidosis
- ORPHA:137754Aminoacylase 1 deficiency
- ORPHA:90Argininemia
- ORPHA:35708Aromatic L-amino acid decarboxylase deficiency
- ORPHA:93Aspartylglucosaminuria
- ORPHA:96Ataxia with vitamin E deficiency
- ORPHA:542585Auditory neuropathy-optic atrophy syndrome
- ORPHA:308410Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
- ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance
- ORPHA:250932Autosomal dominant optic atrophy and peripheral neuropathy
- ORPHA:254892Autosomal dominant progressive external ophthalmoplegia
- ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiency
- ORPHA:642954Autosomal recessive ataxia due to PEX16 deficiency
- ORPHA:642965Autosomal recessive ataxia due to PEX2 deficiency
- ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity
- ORPHA:363429Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:435998Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
- ORPHA:254886Autosomal recessive progressive external ophthalmoplegia
- ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathy
- ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- ORPHA:139480Autosomal recessive spastic paraplegia type 39
- ORPHA:306511Autosomal recessive spastic paraplegia type 48
- ORPHA:401820Autosomal recessive spastic paraplegia type 67
- ORPHA:466722Autosomal recessive spastic paraplegia type 77
- ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- ORPHA:65287Beta-ureidopropionase deficiency
- ORPHA:300Bifunctional enzyme deficiency
- ORPHA:415286Bilirubin encephalopathy
- ORPHA:65284Biotin-thiamine-responsive basal ganglia disease
- ORPHA:79241Biotinidase deficiency
- ORPHA:352649Brain dopamine-serotonin vesicular transport disease
- ORPHA:497623C12ORF65-related combined oxidative phosphorylation defect
- ORPHA:448010CAD-CDG
- ORPHA:369942CADDS
- ORPHA:141Canavan disease
- ORPHA:1361Carnosinase deficiency
- ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:909Cerebrotendinous xanthomatosis
- ORPHA:293955Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- ORPHA:401866Childhood-onset spasticity with hyperglycinemia
- ORPHA:2388Choreoacanthocytosis
- ORPHA:618891Chronic neurovisceral acid sphingomyelinase deficiency
- ORPHA:247585Citrullinemia type II
- ORPHA:71277Classic glucose transporter type 1 deficiency syndrome
- ORPHA:35656Coenzyme Q10 deficiency
- ORPHA:324535Combined oxidative phosphorylation defect type 11
- ORPHA:319514Combined oxidative phosphorylation defect type 13
- ORPHA:319519Combined oxidative phosphorylation defect type 14
- ORPHA:319524Combined oxidative phosphorylation defect type 15
- ORPHA:254920Combined oxidative phosphorylation defect type 2
- ORPHA:420728Combined oxidative phosphorylation defect type 20
- ORPHA:420733Combined oxidative phosphorylation defect type 21
- ORPHA:444013Combined oxidative phosphorylation defect type 23
- ORPHA:444458Combined oxidative phosphorylation defect type 24
- ORPHA:447954Combined oxidative phosphorylation defect type 25
- ORPHA:477684Combined oxidative phosphorylation defect type 26
- ORPHA:477774Combined oxidative phosphorylation defect type 27
- ORPHA:478029Combined oxidative phosphorylation defect type 29
- ORPHA:478042Combined oxidative phosphorylation defect type 30
- ORPHA:565624Combined oxidative phosphorylation defect type 39
- ORPHA:254925Combined oxidative phosphorylation defect type 4
- ORPHA:319504Combined oxidative phosphorylation defect type 8
- ORPHA:71278Congenital brain dysgenesis due to glutamine synthetase deficiency
- ORPHA:300313Congenital cataract-hearing loss-severe developmental delay syndrome
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
- ORPHA:352333Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
- ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- ORPHA:391376Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
- ORPHA:319651Constitutional megaloblastic anemia with severe neurologic disease
- ORPHA:941D-glyceric aciduria
- ORPHA:2962De Barsy syndrome
- ORPHA:619979Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
- ORPHA:2195Dicarboxylic aminoaciduria
- ORPHA:1675Dihydropyrimidine dehydrogenase deficiency
- ORPHA:66634Dilated cardiomyopathy with ataxia
- ORPHA:309819Disorder of pterin metabolism
- ORPHA:230Dopamine beta-hydroxylase deficiency
- ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome
- ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- ORPHA:527276Encephalopathy due to mitochondrial and peroxisomal fission defect
- ORPHA:139406Encephalopathy due to prosaposin deficiency
- ORPHA:833Encephalopathy due to sulfite oxidase deficiency
- ORPHA:353217Epileptic encephalopathy with global cerebral demyelination
- ORPHA:166105FASTKD2-related infantile mitochondrial encephalomyopathy
- ORPHA:333Farber disease
- ORPHA:1561Fatal infantile cytochrome C oxidase deficiency
- ORPHA:168566Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- ORPHA:438178Fatty acyl-CoA reductase 1 deficiency
- ORPHA:397922Ferro-cerebro-cutaneous syndrome
- ORPHA:79097Folinic acid-responsive seizures
- ORPHA:834Free sialic acid storage disease
- ORPHA:95Friedreich ataxia
- ORPHA:349Fucosidosis
- ORPHA:24Fumaric aciduria
- ORPHA:354GM1 gangliosidosis
- ORPHA:309152GM2 gangliosidosis
- ORPHA:351Galactosialidosis
- ORPHA:2066Gamma-aminobutyric acid transaminase deficiency
- ORPHA:33573Gamma-glutamyl transpeptidase deficiency
- ORPHA:77260Gaucher disease type 2
- ORPHA:77261Gaucher disease type 3
- ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- ORPHA:25Glutaryl-CoA dehydrogenase deficiency
- ORPHA:32Glutathione synthetase deficiency
- ORPHA:407Glycine encephalopathy
- ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- ORPHA:391348Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
- ORPHA:382Guanidinoacetate methyltransferase deficiency
- ORPHA:414Gyrate atrophy of choroid and retina
- ORPHA:391417HSD10 disease
- ORPHA:2116Hartnup disease
- ORPHA:137681Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- ORPHA:3197Hereditary hyperekplexia
- ORPHA:36386Hereditary sensory and autonomic neuropathy type 1
- ORPHA:394Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:622Homocystinuria without methylmalonic aciduria
- ORPHA:79155Hydroxykynureninuria
- ORPHA:309147Hyper-beta-alaninemia
- ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiency
- ORPHA:401948Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- ORPHA:2203Hyperlysinemia
- ORPHA:289290Hypermethioninemia encephalopathy due to adenosine kinase deficiency
- ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- ORPHA:247262Hyperphosphatasia-intellectual disability syndrome
- ORPHA:419Hyperprolinemia type 1
- ORPHA:79101Hyperprolinemia type 2
- ORPHA:206428Hypoxanthine-guanine phosphoribosyltransferase deficiency
- ORPHA:457375ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
- ORPHA:313850Infantile cerebellar-retinal degeneration
- ORPHA:77292Infantile neurovisceral acid sphingomyelinase deficiency
- ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- ORPHA:1186Infantile-onset spinocerebellar ataxia
- ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:254913Isolated ATP synthase deficiency
- ORPHA:2609Isolated complex I deficiency
- ORPHA:1460Isolated complex III deficiency
- ORPHA:254905Isolated cytochrome C oxidase deficiency
- ORPHA:480Kearns-Sayre syndrome
- ORPHA:487Krabbe disease
- ORPHA:35704L-Arginine:glycine amidinotransferase deficiency
- ORPHA:506Leigh syndrome
- ORPHA:1187Lethal ataxia with deafness and optic atrophy
- ORPHA:478049Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
- ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
- ORPHA:163684Leukoencephalopathy-dystonia-motor neuropathy syndrome
- ORPHA:314051Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- ORPHA:445110Limb-girdle muscular dystrophy due to POMK deficiency
- ORPHA:401859Lipoic acid synthetase deficiency
- ORPHA:447795Lipoyl transferase 2 deficiency
- ORPHA:171851MEDNIK syndrome
- ORPHA:352328MEGDEL syndrome
- ORPHA:550MELAS
- ORPHA:401973MEND syndrome
- ORPHA:508093MEPAN syndrome
- ORPHA:551MERRF
- ORPHA:597874MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
- ORPHA:943Malonic aciduria
- ORPHA:511Maple syrup urine disease
- ORPHA:59306McLeod neuroacanthocytosis syndrome
- ORPHA:565Menkes disease
- ORPHA:512Metachromatic leukodystrophy
- ORPHA:168598Methionine adenosyltransferase I/III deficiency
- ORPHA:26Methylmalonic acidemia with homocystinuria
- ORPHA:254803Mitochondrial DNA depletion syndrome, encephalomyopathic form
- ORPHA:279934Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- ORPHA:363534Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
- ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
- ORPHA:254851Mitochondrial DNA-related dystonia
- ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
- ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy
- ORPHA:447784Mitochondrial pyruvate carrier deficiency
… and 91 more in the JSON record.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/68385
- This record as JSON: /data/d/68385.json