ASAH1 - Gene browser

ASAH1

N-acylsphingosine amidohydrolase 1

HCNC Approved Symbol: ASAH1 (HGNC:735)
Genomic Coordinates: 8:18,055,992 - 18,084,961 (8p22)
Synonyms: AC, PHP32, FLJ21558, ACDase, ASAH
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the ASAH1 gene.

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

08
Patient count

Hepatosplenomegaly: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Areflexia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Axial weakness: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Contractures: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Delay in motor development: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)