Atypical Gaucher disease due to saposin C deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr: 309252
OMIM Id: 610539
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases - PMID: 22652185 [IBIS]
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Gaucher disease
 -Rare cardiac disease
 -Rare eye disease
 -Rare genetic disease

Comment:

Saposin C deficiency due to mutations in PSAP results in a Gaucher-like phenotype, despite normal in vitro glucocerebrosidase activity. (PMID:22652185)

Symptom Information: Sort by abundance 

1
(HPO:0000602) Ophthalmoplegia 2615292 IBIS 56 / 7739
2
(HPO:0012378) Fatigue 17919309 IBIS 50 / 7739
3
(HPO:0001336) Myoclonus 2615292 IBIS 115 / 7739
4
(HPO:0001337) Tremor 2615292 IBIS 200 / 7739
5
(HPO:0007185) Loss of consciousness 2615292 IBIS 9 / 7739
6
(HPO:0001285) Spastic tetraparesis 2615292 IBIS 29 / 7739
7
(HPO:0001256) Intellectual disability, mild 2615292 IBIS 141 / 7739
8
(HPO:0001251) Ataxia 2615292 IBIS 413 / 7739
9
(HPO:0002197) Generalized seizures 2615292 IBIS 30 / 7739
10
(HPO:0001260) Dysarthria 2615292 IBIS 329 / 7739
11
(HPO:0007256) Abnormal pyramidal signs 2615292 IBIS 116 / 7739
12
(HPO:0000938) Osteopenia 17919309 IBIS 138 / 7739
13
(HPO:0004975) Erlenmeyer flask deformity of the femurs 17919309 IBIS 8 / 7739
14
(HPO:0002653) Bone pain 17919309 IBIS 75 / 7739
15
(HPO:0001971) Hypersplenism 17919309 IBIS 8 / 7739
16
(HPO:0001433) Hepatosplenomegaly 2615292; 17919309 IBIS 78 / 7739
17
(HPO:0004326) Cachexia 17919309 IBIS 71 / 7739
18
(HPO:0001873) Thrombocytopenia 17919309 IBIS 224 / 7739
19
(HPO:0001903) Anemia 17919309 IBIS 289 / 7739
20
(HPO:0003148) Elevated serum acid phosphatase 2615292 IBIS 7 / 7739
21
(OMIM) Gaucher cells in bone marrow 2615292; 17919309 IBIS 5 / 7739
22
(HPO:0001317) Abnormality of the cerebellum 2615292 IBIS 36 / 7739

Associated genes:

PSAP;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
PSAP rs121918105 pathogenic RCV000014292.24
PSAP rs121918106 pathogenic RCV000014294.17
PSAP rs121918108 pathogenic RCV000014299.25
PSAP rs121918109 pathogenic RCV000014300.23
PSAP rs121918110 pathogenic RCV000014301.24

Additional Information:

Clinical Description OMIM Christomanou et al. (1986) reported a patient with an atypical form of Gaucher disease associated with normal beta-glucosidase activity and deficiency of saposin C, an activator protein that enhances beta-glucosidase activity. The patient had neurologic onset at about ...
Genotype-Phenotype Correlations OMIM Vaccaro et al. (2010) characterized the biologic properties of cells from 4 Gaucher patients carrying mutations in the saposin C domain of the PSAP gene. Two patients had mutations involving cysteine residues, whereas the other 2 were compound ...
Molecular genetics OMIM In the patient with atypical Gaucher disease and saposin C deficiency reported by Christomanou et al. (1986), Schnabel et al. (1991) identified a heterozygous mutation in the PSAP gene (176801.0004). Studies suggested that the patient was compound heterozygous ...