ORPHA:166472
Monogenic disease with epilepsy
- 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 | Monogenic disease with epilepsy | |
| fr | Maladie monogénique avec épilepsie | |
| de | Monogene Krankheit mit Epilepsie | |
| es | Enfermedad monogénica con epilepsia | |
| it | Malattia monogenica con epilessia | |
| nl | Monogene ziekte met epilepsie | |
| pt | Doença monogénica com epilepsia | |
| pl | Choroba monogenowa z padaczką | |
| cs | Monogenní onemocnění s epilepsií | |
| uk | Моногенне захворювання з епілепсією | |
| zh | 单基因遗传性癫痫 | |
| tr | Epilepsi ile seyreden monojenik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15653 | E | validated | |
| UMLS | C5680430 | 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:101998Rare epilepsy
rare neurological diseases - ORPHA:183512Rare genetic epilepsy
rare genetic diseases
Children (54):
- ORPHA:182079ARX-related epileptic encephalopathy
- ORPHA:163696Action myoclonus-renal failure syndrome
- ORPHA:209978Alternating hemiplegia
- ORPHA:3095Atypical Rett syndrome
- ORPHA:428Autosomal dominant hypocalcemia
- ORPHA:404481Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
- ORPHA:127Borjeson-Forssman-Lehmann syndrome
- ORPHA:182083Channelopathy with epilepsy
- ORPHA:694922Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome
- ORPHA:565858Craniosynostosis-microretrognathia-severe intellectual disability syndrome
- ORPHA:79134DEND syndrome
- ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- ORPHA:1951Epilepsy-telangiectasia syndrome
- ORPHA:37612Episodic ataxia type 1
- ORPHA:561854FOXG1 syndrome
- ORPHA:708171Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy
- ORPHA:352587Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
- ORPHA:592564GNAO1-related developmental delay-seizures-movement disorder spectrum
- ORPHA:717884Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome
- ORPHA:724148Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome
- ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- ORPHA:3173Infantile spasms-broad thumbs syndrome
- ORPHA:684232Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome
- ORPHA:684216Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome
- ORPHA:708203Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome
- ORPHA:99989Intermediate DEND syndrome
- ORPHA:85279KDM5C-related syndromic X-linked intellectual disability
- ORPHA:435845Lethal neonatal spasticity-epileptic encephalopathy syndrome
- ORPHA:209370MECP2-related severe neonatal encephalopathy
- ORPHA:2152Mowat-Wilson syndrome
- ORPHA:662367NESCAV syndrome
- ORPHA:684240Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
- ORPHA:442835Non-specific early-onset epileptic encephalopathy
- ORPHA:1947Northern epilepsy
- ORPHA:2836PEHO syndrome
- ORPHA:99807PEHO-like syndrome
- ORPHA:589515PUM1-associated developmental disability-ataxia-seizure syndrome
- ORPHA:2896Pitt-Hopkins syndrome
- ORPHA:689397Poirier-Bienvenu neurodevelopmental syndrome
- ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
- ORPHA:564178Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
- ORPHA:352596Progressive myoclonic epilepsy with dystonia
- ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
- ORPHA:101685Rare non-syndromic intellectual disability
- ORPHA:778Rett syndrome
- ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndrome
- ORPHA:391316TNK2-related epilepsy with severe cognitive regression
- ORPHA:199348Thiamine-responsive encephalopathy
- ORPHA:85294X-linked epilepsy-learning disabilities-behavior disorders syndrome
- ORPHA:2076X-linked intellectual disability-epilepsy syndrome
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/166472
- This record as JSON: /data/d/166472.json