MCID: CMB009
MIFTS: 21

Combined Sap Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Combined Sap Deficiency

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Aliases & Descriptions for Combined Sap Deficiency:

Name: Combined Sap Deficiency 49 11
Combined Saposin Deficiency 67 24 65
 
Prosaposin Deficiency 67
Csapd 67

Characteristics:

HPO:

61
combined sap deficiency:
Inheritance: autosomal recessive inheritance
Mortality/Aging: death in infancy
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM49 611721
MedGen34 C2673635
UMLS65 C2673635

Summaries for Combined Sap Deficiency

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UniProtKB/Swiss-Prot:67 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:49 611721

Related Diseases for Combined Sap Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1encephalopathy due to prosaposin deficiency11.3

Symptoms for Combined Sap Deficiency

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Symptoms by clinical synopsis from OMIM:

611721

Clinical features from OMIM:

611721

HPO human phenotypes related to Combined Sap Deficiency:

(show all 23)
id Description Frequency HPO Source Accession
1 abnormality of eye movement hallmark (90%) HP:0000496
2 seizures hallmark (90%) HP:0001250
3 muscular hypotonia hallmark (90%) HP:0001252
4 splenomegaly hallmark (90%) HP:0001744
5 respiratory insufficiency hallmark (90%) HP:0002093
6 recurrent respiratory infections hallmark (90%) HP:0002205
7 hepatomegaly hallmark (90%) HP:0002240
8 involuntary movements hallmark (90%) HP:0004305
9 optic atrophy rare (5%) HP:0000648
10 muscular hypotonia HP:0001252
11 myoclonus HP:0001336
12 splenomegaly HP:0001744
13 hypoplasia of the corpus callosum HP:0002079
14 hepatomegaly HP:0002240
15 fasciculations HP:0002380
16 hyperkinesis HP:0002487
17 abnormality of the periventricular white matter HP:0002518
18 neuronal loss in central nervous system HP:0002529
19 babinski sign HP:0003487
20 abnormality of glycosphingolipid metabolism HP:0004343
21 cns demyelination HP:0007305
22 generalized clonic seizures HP:0011169
23 feeding difficulties HP:0011968

UMLS symptoms related to Combined Sap Deficiency:


myoclonus, hepatomegaly, muscular fasciculation

Drugs & Therapeutics for Combined Sap Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Trace Elements3900
2
Selenium1667782-49-2
Synonyms:
Selanediide
Selenide
 
Selenide(2-)
Selenium
Selenium ion (Se2+)
3Protective Agents5651
4Micronutrients3901
5Antioxidants2442

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

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Genetic tests related to Combined Sap Deficiency:

id Genetic test Affiliating Genes
1 Combined Saposin Deficiency22 PSAP

Anatomical Context for Combined Sap Deficiency

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MalaCards organs/tissues related to Combined Sap Deficiency:

33
Eye

Animal Models for Combined Sap Deficiency or affiliated genes

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Publications for Combined Sap Deficiency

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Variations for Combined Sap Deficiency

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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)single nucleotide variantPathogenicrs121918106GRCh37Chr 10, 73610978: 73610978
2PSAPPSAP, 1-BP DEL, 803GdeletionPathogenic
3PSAPPSAP, IVS9AS, A-G, -2single nucleotide variantPathogenic

Expression for genes affiliated with Combined Sap Deficiency

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

Pathways for genes affiliated with Combined Sap Deficiency

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GO Terms for genes affiliated with Combined Sap Deficiency

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Sources for Combined Sap Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet