ETL5
MCID: EPL081
MIFTS: 22

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 74 29 13 6 72
Etl5 57 12 74
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 dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060752
MeSH 44 D004833
MedGen 42 C3280730
UMLS 72 C3280730

Summaries for Epilepsy, Familial Temporal Lobe, 5

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 614417 PS600512

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 9.4 LOC102724708 CPA6
2 febrile seizures, familial, 11 9.2 LOC102724708 CPA6

Symptoms & Phenotypes for Epilepsy, Familial Temporal Lobe, 5

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

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

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

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

Articles related to Epilepsy, Familial Temporal Lobe, 5:

# Title Authors PMID Year
1
Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy. 8 71
23105115 2012
2
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. 8 71
21922598 2012

Variations for Epilepsy, Familial Temporal Lobe, 5

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CPA6 NM_020361.5(CPA6): c.587A> G (p.His196Arg) single nucleotide variant Pathogenic rs376266840 8:68419071-68419071 8:67506836-67506836
2 CPA6 NM_020361.5(CPA6): c.619C> G (p.Gln207Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs35993949 8:68419039-68419039 8:67506804-67506804
3 CPA6 NM_020361.5(CPA6): c.759G> A (p.Trp253Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs139178030 8:68396082-68396082 8:67483847-67483847
4 CPA6 NM_020361.5(CPA6): c.544C> T (p.Arg182Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs773734224 8:68419114-68419114 8:67506879-67506879
5 CPA6 NM_020361.5(CPA6): c.799G> A (p.Gly267Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61738009 8:68396042-68396042 8:67483807-67483807
6 CPA6 NM_020361.5(CPA6): c.994T> C (p.Tyr332His) single nucleotide variant Uncertain significance rs1554662194 8:68346320-68346320 8:67434085-67434085
7 CPA6 NM_020361.5(CPA6): c.902C> T (p.Pro301Leu) single nucleotide variant Uncertain significance rs753468111 8:68346412-68346412 8:67434177-67434177
8 CPA6 NM_020361.5(CPA6): c.534+4A> G single nucleotide variant Uncertain significance rs766728291 8:68421748-68421748 8:67509513-67509513

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

74
# Symbol AA change Variation ID SNP ID
1 CPA6 p.Gly267Arg VAR_066946 rs61738009

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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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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