SMPD1 - Gene browser

SMPD1

sphingomyelin phosphodiesterase 1

HCNC Approved Symbol: SMPD1 (HGNC:11120)
Genomic Coordinates: 11:6,390,474 - 6,394,996 (11p15.4)
Synonyms: ASM
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

18Patients

In total, 18 patients were diagnosed with a variant in the SMPD1 gene.

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

018
Patient count

Hepatosplenomegaly: 10 (55.6%)
Patient Count: 10 (55.6%)
% of total patients presenting each phenotype is shown in parentheses.
10 (55.6%)
Hepatomegaly: 7 (38.9%)
Patient Count: 7 (38.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (38.9%)
Splenomegaly: 5 (27.8%)
Patient Count: 5 (27.8%)
% of total patients presenting each phenotype is shown in parentheses.
5 (27.8%)
Jaundice: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)
Epistaxis: 4 (22.2%)
Patient Count: 4 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (22.2%)