MCID: CMB009
MIFTS: 25

Combined Sap Deficiency malady

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

Aliases & Classifications for Combined Sap Deficiency

About this section

Aliases & Descriptions for Combined Sap Deficiency:

Name: Combined Sap Deficiency 52 24 12
Combined Saposin Deficiency 52 24 70 27 68
Prosaposin Deficiency 24 70
Encephalopathy Due to Prosaposin Deficiency 54
 
Combined Prosaposin Deficiency 54
Psapd 24
Csapd 70

Characteristics:

Orphanet epidemiological data:

54
encephalopathy due to prosaposin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
combined sap deficiency:
Inheritance: autosomal recessive inheritance
Mortality/Aging: death in infancy
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 611721
Orphanet54 ORPHA139406
ICD10 via Orphanet31 E75.2
MedGen37 C2673635

Summaries for Combined Sap Deficiency

About this section
UniProtKB/Swiss-Prot:70 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 abnormality of eye movement, seizures and muscular hypotonia. An important gene associated with Combined Sap Deficiency is PSAP (Prosaposin). Affiliated tissues include eye.

Description from OMIM:52 611721

Related Diseases for Combined Sap Deficiency

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1encephalopathy due to prosaposin deficiency11.0

Symptoms & Phenotypes for Combined Sap Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

611721

Clinical features from OMIM:

611721

Human phenotypes related to Combined Sap Deficiency:

 64 54 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement64 54 hallmark (90%) Very frequent (99-80%) HP:0000496
2 seizures64 hallmark (90%) HP:0001250
3 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
4 splenomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001744
5 respiratory insufficiency64 54 hallmark (90%) Very frequent (99-80%) HP:0002093
6 recurrent respiratory infections64 54 hallmark (90%) Very frequent (99-80%) HP:0002205
7 hepatomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0002240
8 involuntary movements64 hallmark (90%) HP:0004305
9 optic atrophy64 rare (5%) HP:0000648
10 myoclonus64 54 Very frequent (99-80%) HP:0001336
11 hypoplasia of the corpus callosum64 HP:0002079
12 fasciculations64 HP:0002380
13 hyperkinesis64 HP:0002487
14 abnormality of the periventricular white matter64 HP:0002518
15 neuronal loss in central nervous system64 HP:0002529
16 babinski sign64 HP:0003487
17 abnormality of glycosphingolipid metabolism64 HP:0004343
18 cns demyelination64 HP:0007305
19 generalized clonic seizures64 HP:0011169
20 feeding difficulties64 HP:0011968
21 dystonia54 Very frequent (99-80%)
22 death in infancy54 Very frequent (99-80%)
23 generalized tonic-clonic seizures54 Very frequent (99-80%)

UMLS symptoms related to Combined Sap Deficiency:


muscular fasciculation, hepatomegaly, myoclonus

Drugs & Therapeutics for Combined Sap Deficiency

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Trace Elements5802
2
Selenium1757782-49-2
Synonyms:
Selanediide
Selenide
 
Selenide(2-)
Selenium
Selenium ion (Se2+)
3Protective Agents7190
4Micronutrients5802
5Antioxidants2928

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prospective, Non-randomized Observational Trial of Selenium in Cardiac SurgeryCompletedNCT01394068

Search NIH Clinical Center for Combined Sap Deficiency

Genetic Tests for Combined Sap Deficiency

About this section

Genetic tests related to Combined Sap Deficiency:

id Genetic test Affiliating Genes
1 Combined Saposin Deficiency27 24 PSAP

Anatomical Context for Combined Sap Deficiency

About this section

MalaCards organs/tissues related to Combined Sap Deficiency:

36
Eye

Publications for Combined Sap Deficiency

About this section

Variations for Combined Sap Deficiency

About this section

Clinvar genetic disease variations for Combined Sap Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PSAPNM_001042465.2(PSAP): c.1A> T (p.Met1Leu)SNVPathogenicrs121918106GRCh37Chr 10, 73610978: 73610978
2PSAPPSAP, 1-BP DEL, 803GdeletionPathogenicChr na, -1: -1
3PSAPPSAP, IVS9AS, A-G, -2SNVPathogenicChr na, -1: -1

Expression for genes affiliated with Combined Sap Deficiency

About this section
Search GEO for disease gene expression data for Combined Sap Deficiency.

Pathways for genes affiliated with Combined Sap Deficiency

About this section

GO Terms for genes affiliated with Combined Sap Deficiency

About this section

Sources for Combined Sap Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet