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Standards Ontologies Notations
developmental and epileptic encephalopathy 104

Summary
Synonym
  • DEE104
  • early infantile epileptic encephalopathy 104
Definition
A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21.
Super Class
autosomal dominant disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0070390
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
535 ATP6V0A1 ATPase H+ transporting V0 subunit a1
Displaying 1 entry
Gene ID Gene Symbol Description Source
11975 Atp6v0a1 ATPase, H+ transporting, lysosomal V0 subunit A1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29757 Atp6v0a1 ATPase H+ transporting V0 subunit a1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
174743 vha-6 V-type proton ATPase 116 kDa subunit a 3
177626 vha-5 V-type proton ATPase 116 kDa subunit a 2
178219 vha-7 V-type proton ATPase 116 kDa subunit a 4
The Human Phenotype Ontology
Displaying entries 11 - 20 of 48 in total
HPO ID HPO Term
HP:0000508 Ptosis
HP:0001251 Ataxia
HP:0000639 Nystagmus
HP:0000494 Downslanted palpebral fissures
HP:0000717 Autism
HP:0001315 Reduced tendon reflexes
HP:0002133 Status epilepticus
HP:0001268 Mental deterioration
HP:0001558 Decreased fetal movement
HP:0001263 Global developmental delay
Displaying all 5 entries
Gene ID Gene Symbol Description
1759 DNM1 dynamin 1
523 ATP6V1A ATPase H+ transporting V1 subunit A
781 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
8867 SYNJ1 synaptojanin 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024