Epilepsy, progressive myoclonic, 3, with or without intracellular inclusions

Preferred Label : Epilepsy, progressive myoclonic, 3, with or without intracellular inclusions;

Symbol : EPM3;

CISMeF acronym : CLN14; EPM3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, 14; CLN14;

Description : Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by Staropoli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium channel tetramerisation domain containing 7 gene (KCTD7, 611725.0001);

Laboratory abnormalities : Granular osmiophilic cytoplasmic deposits ultrastructurally in cells; 'Fingerprint profiles' ultrastructurally in cells; 'Rectilinear profiles' ultrastructurally in cells;

Prefixed ID : #611726;

Details

Origin ID

611726;

UMLS CUI

C2673257;

Currated CISMeF NLP mapping
- Progressive myoclonic epilepsy type 3 [ICD-11 More detail]
- Progressive myoclonic epilepsy type 3 [ORDO Disease]
- Progressive myoclonic epilepsy type 3 (disorder) [SNOMED CT concept]
- epilepsy, progressive myoclonic 3 [MeSH concept]
- epilepsy, progressive myoclonic 3 [MeSH Supplementary Concept]
- progressive myoclonus epilepsy 3 [DO Concept]
DO Cross reference
- progressive myoclonus epilepsy 3 [DO Concept]
Genes related to phenotype
- Potassium channel tetramerization domain-containing protein 7 [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Epilepsy [HPO term]
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage material [HPO term]
- Generalized myoclonic seizure [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Myoclonic seizure [HPO term]
- Myoclonic status epilepticus [HPO term]
- Optic atrophy [HPO term]
- Progressive [HPO term]
- Truncal ataxia [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Progressive myoclonic epilepsy type 3 [ORDO Disease]
See also inter- (CISMeF)
- potassium channel tetramerization domain containing 7 [ORDO Gene]
- potassium channel tetramerization domain containing 7 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive myoclonic epilepsy type 3 [ORDO Disease]
- Progressive myoclonic epilepsy type 3 (disorder) [SNOMED CT concept]
- epilepsy, progressive myoclonic 3 [MeSH Supplementary Concept]
- epilepsy, progressive myoclonic 3 [MeSH concept]
- progressive myoclonus epilepsy 3 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients