ABCD1 - Gene browser

ABCD1

ATP binding cassette subfamily D member 1

HCNC Approved Symbol: ABCD1 (HGNC:61)
Genomic Coordinates: 23:153,724,856 - 153,744,755 (Xq28)
Synonyms: AMN, ALDP, adrenoleukodystrophy, ALD
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

40Patients

In total, 40 patients were diagnosed with a variant in the ABCD1 gene.

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

040
Patient count

Spastic paraplegia: 8 (20.0%)
Patient Count: 8 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
8 (20.0%)
Spasticity: 7 (17.5%)
Patient Count: 7 (17.5%)
% of total patients presenting each phenotype is shown in parentheses.
7 (17.5%)
Spastic paraparesis: 5 (12.5%)
Patient Count: 5 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (12.5%)
Addison's disease: 4 (10.0%)
Patient Count: 4 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.0%)
Lower limb spasticity: 4 (10.0%)
Patient Count: 4 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.0%)