Log In|Sign Up
ENN-Acetylaspartate Deficiency (NACED)
Alias:
Hypoacetylaspartia
Naa Deficiency
Naced
Deficiency, N-Acetylaspartate
Favorite
N-Acetylaspartate Deficiency, also known as hypoacetylaspartia, is related to estrogen-receptor positive breast cancer and microcephaly, and has symptoms including ataxia, truncal An important gene associated with N-Acetylaspartate Deficiency is NAT8L (N-Acetyltransferase 8 Like). Affiliated tissues include brain and breast, and related phenotypes are seizure and global developmental delay
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
