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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 31 - 40 of 48 in total
HPO ID HPO Term
HP:0001298 Encephalopathy
HP:0002063 Rigidity
HP:0001265 Hyporeflexia
HP:0001508 Failure to thrive
HP:0011443 Abnormality of coordination
HP:0004305 Involuntary movements
HP:0012547 Abnormal involuntary eye movements
HP:0002509 Limb hypertonia
HP:0012444 Brain atrophy
HP:0100710 Impulsivity
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