MCID: CMB009
MIFTS: 17

Combined Sap Deficiency malady

Neuronal diseases, Metabolic diseases categories

Summaries for Combined Sap Deficiency

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Sources:
46OMIM, 32MalaCards
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MalaCards: Combined Sap Deficiency, is also known as encephalopathy due to prosaposin deficiency, and has symptoms including death in infancy, autosomal recessive inheritance and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Combined Sap Deficiency is PSAP (prosaposin). Affiliated tissues include lung, liver and eye.

Description from OMIM:46 611721

Aliases & Classifications for Combined Sap Deficiency

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
encephalopathy due to prosaposin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

combined sap deficiency 46
encephalopathy due to prosaposin deficiency 48
combined prosaposin deficiency 48


External Ids:

OMIM46 611721
ICD10 via Orphanet26 E75.2

Related Diseases for Combined Sap Deficiency

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Clinical Features for Combined Sap Deficiency

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

611721

Clinical synopsis from OMIM:

611721

Symptoms:

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

Drugs & Therapeutics for Combined Sap Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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:
32MalaCards
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MalaCards organs/tissues related to Combined Sap Deficiency:

32
Lung, Liver, Eye

Animal Models for Combined Sap Deficiency or affiliated genes

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Publications for Combined Sap Deficiency

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Genetic Variations for Combined Sap Deficiency

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Expression for genes affiliated with Combined Sap Deficiency

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Sources:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet