MCID: CMB009
MIFTS: 18

Combined Sap Deficiency malady

Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Combined Sap Deficiency

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MalaCards based summary: 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). Affiliated tissues include eye, liver and lung.

Description from OMIM:46 611721

Aliases & Classifications for Combined Sap Deficiency

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Combined Sap Deficiency, Aliases & Descriptions:

Name: Combined Sap Deficiency 46
Encephalopathy Due to Prosaposin Deficiency 48
 
Combined Prosaposin Deficiency 48
Combined Saposin Deficiency 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Rare 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


External Ids:

OMIM46 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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Symptoms by clinical synopsis from OMIM:

611721

Clinical features from OMIM:

611721

Symptoms:

48 (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

HPO human phenotypes related to Combined Sap Deficiency:

(show all 24)
id Description Frequency HPO Source Accession
1 abnormality of eye movement hallmark (90%) HP:0000496
2 seizures hallmark (90%) HP:0001250
3 muscular hypotonia hallmark (90%) HP:0001252
4 splenomegaly hallmark (90%) HP:0001744
5 respiratory insufficiency hallmark (90%) HP:0002093
6 recurrent respiratory infections hallmark (90%) HP:0002205
7 hepatomegaly hallmark (90%) HP:0002240
8 involuntary movements hallmark (90%) HP:0004305
9 optic atrophy rare (5%) HP:0000648
10 autosomal recessive inheritance HP:0000007
11 myoclonus HP:0001336
12 splenomegaly HP:0001744
13 hypoplasia of the corpus callosum HP:0002079
14 hepatomegaly HP:0002240
15 fasciculations HP:0002380
16 hyperkinesis HP:0002487
17 abnormality of the periventricular white matter HP:0002518
18 neuronal loss in central nervous system HP:0002529
19 babinski sign HP:0003487
20 congenital onset HP:0003577
21 abnormality of glycosphingolipid metabolism HP:0004343
22 cns demyelination HP:0007305
23 generalized clonic seizures HP:0011169
24 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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Anatomical Context for Combined Sap Deficiency

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MalaCards organs/tissues related to Combined Sap Deficiency:

32
Eye, Liver, Lung

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 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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet