Encephalopathy due to prosaposin deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PROSAPOSIN DEFICIENCY
COMBINED SAP DEFICIENCY
PSAPD
Combined prosaposin deficiency
Number of Symptoms 38
OrphanetNr: 139406
OMIM Id: 611721
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Sphingolipidosis
 -Rare genetic disease
Sphingolipidosis with epilepsy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy rare [HPO:skoehler] 238 / 7739
2
 (HPO:0000496) Abnormality of eye movement Very frequent [Orphanet] 79 / 7739
3
 (HPO:0002380) Fasciculations 42 / 7739
4
 (HPO:0002487) Hyperkinesis 7 / 7739
5
 (HPO:0001332) Dystonia Very frequent [Orphanet] 197 / 7739
6
 (HPO:0011169) Generalized clonic seizures 2 / 7739
7
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
8
 (HPO:0004305) Involuntary movements Very frequent [Orphanet] 50 / 7739
9
 (HPO:0001336) Myoclonus 115 / 7739
10
 (HPO:0003487) Babinski sign 179 / 7739
11
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
12
 (HPO:0011968) Feeding difficulties 240 / 7739
13
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
14
 (HPO:0004343) Abnormality of glycosphingolipid metabolism 3 / 7739
15
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
16
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
17
 (HPO:0001324) Muscle weakness 859 / 7739
18
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
19
 (HPO:0010547) Muscle flaccidity 466 / 7739
20
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
21
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739
22
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
23
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
24
 (OMIM) Increased urinary glycosphingolipids, particularly globotriaosylceramide 1 / 7739
25
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
26
 (OMIM) Periventricular white matter changes 7 / 7739
27
 (MedDRA:10028975) Neonatal respiratory failure 3 / 7739
28
 (OMIM) Exaggerated Moro reflex 1 / 7739
29
 (HPO:0007305) CNS demyelination 21 / 7739
30
 (OMIM) Fibrillary astrocytes 1 / 7739
31
 (OMIM) Multiple tissue biopsies show lysosomal storage disease 1 / 7739
32
 (OMIM) Deficiency of saposins A, B, C, and D 1 / 7739
33
 (OMIM) Hypo- and demyelination of the brain 1 / 7739
34
 (OMIM) Clonic seizures 3 / 7739
35
 (OMIM) Decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes 1 / 7739
36
 (OMIM) Hyperkinetic movements 4 / 7739
37
 (HPO:0003577) Congenital onset 133 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Harzer et al. (1989) described a patient, born of consanguineous parents, with combined SAP deficiency. Shortly after birth, the proband presented hyperkinetic behavior, myoclonus, respiratory insufficiency, and hepatosplenomegaly. Gaucher-like storage cells were found in the bone marrow, and ...
Molecular genetics OMIM In 2 sibs with combined SAP deficiency reported by Harzer et al. (1989), Schnabel et al. (1992) identified a homozygous mutation in the PSAP gene (176801.0005).

In a Slovakian patient with fatal infantile combined SAP deficiency, ...