MCID: CMB009
MIFTS: 17

Combined Sap Deficiency malady

Neuronal diseases, Rare diseases categories
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Summaries for Combined Sap Deficiency

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Sources:
47OMIM, 33MalaCards
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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:47 611721

Aliases & Classifications for Combined Sap Deficiency

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Sources:
47OMIM, 49Orphanet, 26ICD10 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):

49
encephalopathy due to prosaposin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

combined sap deficiency 47
encephalopathy due to prosaposin deficiency 49
combined prosaposin deficiency 49


External Ids:

OMIM47 611721
ICD10 via Orphanet26 E75.2

Related Diseases for Combined Sap Deficiency

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Symptoms for Combined Sap Deficiency

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

611721

Clinical features from OMIM:

611721

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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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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Anatomical Context for Combined Sap Deficiency

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Sources:
33MalaCards
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MalaCards organs/tissues related to Combined Sap Deficiency:

33
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, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet