MCID: CMB009
MIFTS: 18

Combined Sap Deficiency malady

Genetic diseases (common) category

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 65 67
 
Prosaposin Deficiency 67
Csapd 67


Classifications:



External Ids:

OMIM49 611721
MedGen34 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 metachromatic leukodystrophy, 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 deficiency10.3
2metachromatic leukodystrophy10.2
3leukodystrophy10.2
4lipid storage disease10.2

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 26)
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 autosomal recessive inheritance HP:0000007
11 muscular hypotonia HP:0001252
12 myoclonus HP:0001336
13 death in infancy HP:0001522
14 splenomegaly HP:0001744
15 hypoplasia of the corpus callosum HP:0002079
16 hepatomegaly HP:0002240
17 fasciculations HP:0002380
18 hyperkinesis HP:0002487
19 abnormality of the periventricular white matter HP:0002518
20 neuronal loss in central nervous system HP:0002529
21 babinski sign HP:0003487
22 congenital onset HP:0003577
23 abnormality of glycosphingolipid metabolism HP:0004343
24 cns demyelination HP:0007305
25 generalized clonic seizures HP:0011169
26 feeding difficulties HP:0011968

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
1
Selenium1617782-49-2
Synonyms:
Selanediide
Selenide
 
Selenide(2-)
Selenium
Selenium ion (Se2+)

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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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_001042465.1(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