MCID: CMB009
MIFTS: 17

Combined Sap Deficiency malady

Neuronal diseases, Rare diseases categories

Summaries for Combined Sap Deficiency

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Sources:
48OMIM, 34MalaCards
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MalaCards: Combined Sap Deficiency, is also known as encephalopathy due to prosaposin deficiency, and has symptoms including dystonia/torticollis/writer's cramp/blepharospasms, death in infancy and repeat respiratory infections. An important gene associated with Combined Sap Deficiency is PSAP (prosaposin). Affiliated tissues include eye, lung and liver.

Description from OMIM:48 611721

Aliases & Classifications for Combined Sap Deficiency

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Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
encephalopathy due to prosaposin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

combined sap deficiency 48
encephalopathy due to prosaposin deficiency 50
combined prosaposin deficiency 50


External Ids:

OMIM48 611721
ICD10 via Orphanet27 E75.2

Related Diseases for Combined Sap Deficiency

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Symptoms for Combined Sap Deficiency

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

611721

Clinical features from OMIM:

611721

Symptoms:

50 (show all 11)
  • dystonia/torticollis/writer's cramp/blepharospasms
  • death in infancy
  • repeat respiratory infections
  • splenomegaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • hypotonia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • abnormal eye movements/oculomotor disorder
  • seizures/epilepsy/absences/spasms/status epilepticus
  • myoclonus/fasciculations
  • autosomal recessive inheritance

Drugs & Therapeutics for Combined Sap Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Combined Sap Deficiency

Drug clinical trials:

Search ClinicalTrials for Combined Sap Deficiency

Search NIH Clinical Center for Combined Sap Deficiency

Search CenterWatch for Combined Sap Deficiency

Genetic Tests for Combined Sap Deficiency

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Anatomical Context for Combined Sap Deficiency

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Sources:
34MalaCards
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MalaCards organs/tissues related to Combined Sap Deficiency:

34
Eye, Lung, Liver

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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Combined Sap Deficiency:

1
id Gene Name 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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Combined Sap Deficiency

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

Sources for Combined Sap Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet