ETL5
MCID: EPL081
MIFTS: 19

Epilepsy, Familial Temporal Lobe, 5 (ETL5)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Familial Temporal Lobe, 5

MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 5:

Name: Epilepsy, Familial Temporal Lobe, 5 57 75 29 13 6 73
Etl5 57 12 75
Epilepsy, Temporal Lobe, Familial, Type 5 40
Familial Temporal Lobe Epilepsy 5 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive (in 1 patient)

Miscellaneous:
variable age of onset
four unrelated caucasian patients have been reported (as of march 2017)
one patient had compound heterozygous mutations


HPO:

32
epilepsy, familial temporal lobe, 5:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614417
Disease Ontology 12 DOID:0060752
MedGen 42 C3280730
MeSH 44 D004833
UMLS 73 C3280730

Summaries for Epilepsy, Familial Temporal Lobe, 5

UniProtKB/Swiss-Prot : 75 Epilepsy, familial temporal lobe, 5: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature.

MalaCards based summary : Epilepsy, Familial Temporal Lobe, 5, also known as etl5, is related to temporal epilepsy, familial and febrile seizures, familial, 11. An important gene associated with Epilepsy, Familial Temporal Lobe, 5 is CPA6 (Carboxypeptidase A6). Affiliated tissues include temporal lobe, and related phenotype is seizures.

Disease Ontology : 12 A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.

Description from OMIM: 614417

Related Diseases for Epilepsy, Familial Temporal Lobe, 5

Diseases in the Temporal Lobe Epilepsy family:

Epilepsy, Familial Temporal Lobe, 1 Epilepsy, Familial Temporal Lobe, 2
Epilepsy, Familial Temporal Lobe, 3 Epilepsy, Familial Temporal Lobe, 4
Epilepsy, Familial Temporal Lobe, 5 Epilepsy, Familial Temporal Lobe, 6
Epilepsy, Familial Temporal Lobe, 7 Epilepsy, Familial Temporal Lobe, 8

Diseases related to Epilepsy, Familial Temporal Lobe, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 temporal epilepsy, familial 9.8 CPA6 LOC102724708
2 febrile seizures, familial, 11 9.7 CPA6 LOC102724708

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 5

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, temporal lobe
structural changes in the temporal lobe


Clinical features from OMIM:

614417

Human phenotypes related to Epilepsy, Familial Temporal Lobe, 5:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250

Drugs & Therapeutics for Epilepsy, Familial Temporal Lobe, 5

Search Clinical Trials , NIH Clinical Center for Epilepsy, Familial Temporal Lobe, 5

Genetic Tests for Epilepsy, Familial Temporal Lobe, 5

Genetic tests related to Epilepsy, Familial Temporal Lobe, 5:

# Genetic test Affiliating Genes
1 Epilepsy, Familial Temporal Lobe, 5 29 CPA6

Anatomical Context for Epilepsy, Familial Temporal Lobe, 5

MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 5:

41
Temporal Lobe

Publications for Epilepsy, Familial Temporal Lobe, 5

Variations for Epilepsy, Familial Temporal Lobe, 5

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Temporal Lobe, 5:

75
# Symbol AA change Variation ID SNP ID
1 CPA6 p.Gly267Arg VAR_066946 rs61738009

ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CPA6 NM_020361.4(CPA6): c.799G> A (p.Gly267Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61738009 GRCh37 Chromosome 8, 68396042: 68396042
2 CPA6 NM_020361.4(CPA6): c.799G> A (p.Gly267Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61738009 GRCh38 Chromosome 8, 67483807: 67483807
3 CPA6 NM_020361.4(CPA6): c.619C> G (p.Gln207Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs35993949 GRCh37 Chromosome 8, 68419039: 68419039
4 CPA6 NM_020361.4(CPA6): c.619C> G (p.Gln207Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs35993949 GRCh38 Chromosome 8, 67506804: 67506804
5 CPA6 NM_020361.4(CPA6): c.587A> G (p.His196Arg) single nucleotide variant Pathogenic rs376266840 GRCh37 Chromosome 8, 68419071: 68419071
6 CPA6 NM_020361.4(CPA6): c.587A> G (p.His196Arg) single nucleotide variant Pathogenic rs376266840 GRCh38 Chromosome 8, 67506836: 67506836
7 CPA6 NM_020361.4(CPA6): c.994T> C (p.Tyr332His) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 67434085: 67434085
8 CPA6 NM_020361.4(CPA6): c.994T> C (p.Tyr332His) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 68346320: 68346320

Expression for Epilepsy, Familial Temporal Lobe, 5

Search GEO for disease gene expression data for Epilepsy, Familial Temporal Lobe, 5.

Pathways for Epilepsy, Familial Temporal Lobe, 5

GO Terms for Epilepsy, Familial Temporal Lobe, 5

Sources for Epilepsy, Familial Temporal Lobe, 5

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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