3billion
back to listBack to List
Gene BrowserrightALDH4A1

ALDH4A1

aldehyde dehydrogenase 4 family member A1

HCNC Approved Symbol
ALDH4A1 (HGNC:406)
Genomic Coordinates
1:18,871,430 - 18,902,555 (1p36.13)
Synonyms
P5CDh, ALDH4
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

Total 3 patients were diagnosed with a variant in the ALDH4A1 gene.

Frequently observed phenotypes (Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

03
Patient count
Epilepsy
 2(66.7%)
Patient Count: 2 (66.7%)

% of total patients presenting each phenotype is shown in parentheses.

 2(66.7%)
Hyperprolinemia
 2(66.7%)
Patient Count: 2 (66.7%)

% of total patients presenting each phenotype is shown in parentheses.

 2(66.7%)
Abnormality of the periventricular white matter
 1(33.3%)
Patient Count: 1 (33.3%)

% of total patients presenting each phenotype is shown in parentheses.

 1(33.3%)
Global development delay
 1(33.3%)
Patient Count: 1 (33.3%)

% of total patients presenting each phenotype is shown in parentheses.

 1(33.3%)
Global developmental delay
 1(33.3%)
Patient Count: 1 (33.3%)

% of total patients presenting each phenotype is shown in parentheses.

 1(33.3%)
No Results
• Last updated: 2024-06-30
3billion logo

Searching for a Patient?

If you are searching for a patient with atypical phenotype or potential novel disease mechanism, or a patient with a specific variant*, please contact us.

*3billion is an active ClinVar submitter.
Your variant of interest may already be in ClinVar.