MCID: CMB009
MIFTS: 26

Combined Sap Deficiency malady

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

Aliases & Classifications for Combined Sap Deficiency

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Aliases & Descriptions for Combined Sap Deficiency:

Name: Combined Sap Deficiency 50 23 12
Combined Saposin Deficiency 50 23 68 25 66
Prosaposin Deficiency 23 68
Encephalopathy Due to Prosaposin Deficiency 52
 
Combined Prosaposin Deficiency 52
Prosaposin 12
Csapd 68
Psapd 23

Characteristics:

Orphanet epidemiological data:

52
encephalopathy due to prosaposin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
combined sap deficiency:
Inheritance: autosomal recessive inheritance
Mortality/Aging: death in infancy
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 611721
Orphanet52 ORPHA139406
ICD10 via Orphanet29 E75.2
MedGen35 C2673635

Summaries for Combined Sap Deficiency

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UniProtKB/Swiss-Prot:68 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 prostatitis and prostate cancer, 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:50 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
1prostatitis10.1
2prostate cancer10.1
3breast cancer10.1
4cutaneous leishmaniasis10.0
5neuroblastoma9.9
6metachromatic leukodystrophy9.9
7leukodystrophy9.9
8lipid storage disease9.9

Graphical network of diseases related to Combined Sap Deficiency:



Diseases related to combined sap deficiency

Symptoms for Combined Sap Deficiency

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Symptoms by clinical synopsis from OMIM:

611721

Clinical features from OMIM:

611721

Symptoms:

 52 (show all 10)
  • abnormality of eye movement
  • muscular hypotonia
  • dystonia
  • myoclonus
  • death in infancy
  • splenomegaly
  • generalized tonic-clonic seizures
  • respiratory insufficiency
  • recurrent respiratory infections
  • hepatomegaly

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:


muscular fasciculation, hepatomegaly, myoclonus

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
selenium1717782-49-2
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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Genetic tests related to Combined Sap Deficiency:

id Genetic test Affiliating Genes
1 Combined Saposin Deficiency25 23 PSAP

Anatomical Context for Combined Sap Deficiency

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MalaCards organs/tissues related to Combined Sap Deficiency:

34
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet