Progressive myoclonic epilepsy type 3

General Information (adopted from Orphanet):

Synonyms, Signs: CEROID LIPOFUSCINOSIS, NEURONAL, 14
CLN14
EPM3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Number of Symptoms 23
OrphanetNr: 263516
OMIM Id: 611726
ICD-10: G40.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital disorder of glycosylation with neurological involvement
 -Rare genetic disease
 -Rare neurologic disease
Neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Progressive myoclonic epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
2
(HPO:0000618) Blindness 124 / 7739
3
(HPO:0000572) Visual loss rare [HPO:skoehler] 272 / 7739
4
(HPO:0001260) Dysarthria 329 / 7739
5
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
6
(HPO:0002078) Truncal ataxia 41 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0003208) Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 8 / 7739
9
(OMIM) Limited expressive language 1 / 7739
10
(HPO:0002120) Cerebral cortical atrophy 187 / 7739
11
(OMIM) Neurologic regression following seizure onset 1 / 7739
12
(OMIM) Secondary generalization 3 / 7739
13
(HPO:0002059) Cerebral atrophy rare [HPO:skoehler] 171 / 7739
14
(OMIM) Initial normal development 1 / 7739
15
(OMIM) EEG shows slowed dysrhythmia and multifocal discharges 1 / 7739
16
(HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739
17
(OMIM) Granular osmiophilic cytoplasmic deposits (GROD) ultrastructurally in cells 2 / 7739
18
(OMIM) Loss of motor function 3 / 7739
19
(HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
20
(HPO:0003676) Progressive disorder 148 / 7739
21
(OMIM) 'Rectilinear profiles' ultrastructurally in cells 1 / 7739
22
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
(OMIM) Optic atrophy, mild (in 1 patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Van Bogaert et al. (2007) reported a consanguineous Moroccan family in which 3 members had early-onset progressive myoclonic epilepsy. Multifocal myoclonic seizures began between 16 and 24 months of age after normal initial development. Two patients had secondary ...
Molecular genetics OMIM In affected members of a consanguineous Moroccan family with progressive myoclonic epilepsy, Van Bogaert et al. (2007) identified a homozygous mutation in the KCTD7 gene (R99X; 611725.0001).

In 2 Mexican sibs with progressive myoclonic epilepsy and ...