MCID: CMB009
MIFTS: 15

Combined Sap Deficiency malady

Genetic diseases (common) category

Summaries for Combined Sap Deficiency

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MalaCards based summary: Combined Sap Deficiency, is also known as combined saposin deficiency, and has symptoms including optic atrophy, autosomal recessive inheritance and myoclonus. An important gene associated with Combined Sap Deficiency is PSAP (prosaposin).

Description from OMIM:45 611721

Aliases & Classifications for Combined Sap Deficiency

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Combined Sap Deficiency, Aliases & Descriptions:

Name: Combined Sap Deficiency 45 10
 
Combined Saposin Deficiency 45 20 22 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 611721

Related Diseases for Combined Sap Deficiency

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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 16)
id Description Frequency HPO Source Accession
1 optic atrophy rare (5%) HP:0000648
2 autosomal recessive inheritance HP:0000007
3 myoclonus HP:0001336
4 splenomegaly HP:0001744
5 hypoplasia of the corpus callosum HP:0002079
6 hepatomegaly HP:0002240
7 fasciculations HP:0002380
8 hyperkinesis HP:0002487
9 abnormality of the periventricular white matter HP:0002518
10 neuronal loss in central nervous system HP:0002529
11 babinski sign HP:0003487
12 congenital onset HP:0003577
13 abnormality of glycosphingolipid metabolism HP:0004343
14 cns demyelination HP:0007305
15 generalized clonic seizures HP:0011169
16 feeding difficulties HP:0011968

Drugs & Therapeutics for Combined Sap Deficiency

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Drug clinical trials:

Search ClinicalTrials for Combined Sap Deficiency

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 Deficiency20 22 PSAP

Anatomical Context for Combined Sap Deficiency

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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:

6
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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Compounds for genes affiliated with Combined Sap Deficiency

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GO Terms for genes affiliated with Combined Sap Deficiency

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Products for genes affiliated with Combined Sap Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Combined Sap Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet