MCID: CMB009
MIFTS: 27

Combined Sap Deficiency

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Sap Deficiency

MalaCards integrated aliases for Combined Sap Deficiency:

Name: Combined Sap Deficiency 54 13
Combined Saposin Deficiency 71 29 69
Encephalopathy Due to Prosaposin Deficiency 56
Combined Prosaposin Deficiency 56
Prosaposin Deficiency 71
Csapd 71

Characteristics:

Orphanet epidemiological data:

56
encephalopathy due to prosaposin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in infancy


HPO:

32
combined sap deficiency:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Sap Deficiency

UniProtKB/Swiss-Prot : 71 Combined saposin deficiency: Due to absence of all saposins, leading to a fatal storage disorder with hepatosplenomegaly and severe neurological involvement.

MalaCards based summary : Combined Sap Deficiency, also known as combined saposin deficiency, is related to encephalopathy due to prosaposin deficiency, and has symptoms including myoclonus, hepatomegaly and splenomegaly. An important gene associated with Combined Sap Deficiency is PSAP (Prosaposin). The drugs Selenium and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include brain and eye.

Description from OMIM: 611721

Related Diseases for Combined Sap Deficiency

Diseases related to Combined Sap Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 encephalopathy due to prosaposin deficiency 11.2

Symptoms & Phenotypes for Combined Sap Deficiency

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
myoclonus
thin corpus callosum
extensor plantar responses
hyperkinetic movements
more
Abdomen- Spleen:
splenomegaly

Head And Neck- Eyes:
optic atrophy (reported in 1 patient)

Laboratory- Abnormalities:
multiple tissue biopsies show lysosomal storage disease
deficiency of saposins a, b, c, and d
decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes
increased urinary glycosphingolipids, particularly globotriaosylceramide

Abdomen- Liver:
hepatomegaly

Abdomen- Gastroin testinal:
poor feeding

Respiratory:
neonatal respiratory failure


Clinical features from OMIM:

611721

Human phenotypes related to Combined Sap Deficiency:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus 56 32 Very frequent (99-80%) HP:0001336
2 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
3 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
4 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
5 optic atrophy 32 occasional (7.5%) HP:0000648
6 dystonia 56 Very frequent (99-80%)
7 recurrent respiratory infections 56 Very frequent (99-80%)
8 hypoplasia of the corpus callosum 32 HP:0002079
9 respiratory insufficiency 56 Very frequent (99-80%)
10 feeding difficulties 32 HP:0011968
11 death in infancy 56 Very frequent (99-80%)
12 generalized tonic-clonic seizures 56 Very frequent (99-80%)
13 fasciculations 32 HP:0002380
14 babinski sign 32 HP:0003487
15 hyperkinesis 32 HP:0002487
16 abnormality of eye movement 56 Very frequent (99-80%)
17 abnormality of glycosphingolipid metabolism 32 HP:0004343
18 abnormality of the periventricular white matter 32 HP:0002518
19 neuronal loss in central nervous system 32 HP:0002529
20 cns demyelination 32 HP:0007305
21 generalized clonic seizures 32 HP:0011169

UMLS symptoms related to Combined Sap Deficiency:


muscular fasciculation, myoclonus

Drugs & Therapeutics for Combined Sap Deficiency

Drugs for Combined Sap Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Selenium Approved, Vet_approved 7782-49-2
2 Antioxidants
3 Micronutrients
4 Protective Agents
5 Trace Elements

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Prospective, Non-randomized Observational Trial of Selenium in Cardiac Surgery Completed NCT01394068

Search NIH Clinical Center for Combined Sap Deficiency

Genetic Tests for Combined Sap Deficiency

Genetic tests related to Combined Sap Deficiency:

id Genetic test Affiliating Genes
1 Combined Saposin Deficiency 29 24 PSAP

Anatomical Context for Combined Sap Deficiency

MalaCards organs/tissues related to Combined Sap Deficiency:

39
Brain, Eye

Publications for Combined Sap Deficiency

Variations for Combined Sap Deficiency

ClinVar genetic disease variations for Combined Sap Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PSAP NM_001042465.2(PSAP): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121918106 GRCh37 Chromosome 10, 73610978: 73610978
2 PSAP PSAP, 1-BP DEL, 803G deletion Pathogenic
3 PSAP PSAP, IVS9AS, A-G, -2 single nucleotide variant Pathogenic

Expression for Combined Sap Deficiency

Search GEO for disease gene expression data for Combined Sap Deficiency.

Pathways for Combined Sap Deficiency

GO Terms for Combined Sap Deficiency

Sources for Combined Sap Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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