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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
External Links
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 1 - 10 of 48 in total
HPO ID HPO Term
HP:0000648 Optic atrophy
HP:0000504 Abnormality of vision
HP:0000750 Delayed speech and language development
HP:0000348 High forehead
HP:0000708 Atypical behavior
HP:0001250 Seizure
HP:0000546 Retinal degeneration
HP:0000252 Microcephaly
HP:0000668 Hypodontia
HP:0001249 Intellectual disability
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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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024