MCID: CMB009
MIFTS: 11

Combined Sap Deficiency malady

Neuronal, Metabolic categories

Summaries for Combined Sap Deficiency

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Combined Sap Deficiency, is also known as encephalopathy due to prosaposin deficiency, and has symptoms including abnormal eye movements/oculomotor disorder, hepatomegaly/liver enlargement (excluding storage disease) and splenomegaly. An important gene associated with Combined Sap Deficiency is PSAP (prosaposin).

Description from OMIM:47 611721

Aliases & Classifications for Combined Sap Deficiency

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


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

Clinical Features for Combined Sap Deficiency

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

611721

Clinical synopsis from OMIM:

611721

Symptoms:

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

Drugs & Therapeutics for Combined Sap Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Combined Sap Deficiency

Animal Models for Combined Sap Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Combined Sap Deficiency

Genetic Variations for Combined Sap Deficiency

Expression for genes affiliated with Combined Sap Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Combined Sap Deficiency

GO Terms for genes affiliated with Combined Sap Deficiency

Products for genes affiliated with Combined Sap Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Combined Sap Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet