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PSAP

prosaposin

HCNC Approved Symbol
PSAP (HGNC:9498)
Genomic Coordinates
10:71,816,298 - 71,851,251 (10q22.1)
Synonyms
SAP1, GLBA, SAP2
Disease Associations
This gene is associated with the following 5 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
{Parkinson disease 24, autosomal dominant, susceptibility to}
619491AD
Combined SAP deficiency
611721AR
Gaucher disease, atypical
610539-
Krabbe disease, atypical
611722AR
Metachromatic leukodystrophy due to SAP-b deficiency
249900AR

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PSAP gene.

Frequently observed phenotypes

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

Cerebral palsy
 1 (100.0%)
Poor speech
 1 (100.0%)