MCID: DBR002
MIFTS: 16

De Barsy Syndrome malady

Neuronal diseases category

Summaries for De Barsy Syndrome

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 De barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria); cloudy corneas; short stature; and intellectual disability. affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor muscle tone (hypotonia); movement disorders; and other features that involve the eyes, face, skin and nervous system. the genetic cause of the condition is not known in most cases, but it is inherited in an autosomal recessive manner. treatment generally focuses on the signs and symptoms present in each individual and may include early eye surgery and physiotherapy to avoid contractures. last updated: 10/31/2011

MalaCards: De Barsy Syndrome, also known as corneal clouding, cutis laxa and mental retardation, is related to cutis laxa and cutis laxa, autosomal recessive, type iiia. An important gene associated with De Barsy Syndrome is PYCR1 (pyrroline-5-carboxylate reductase 1). The compounds proline and hydroxyproline have been mentioned in the context of this disorder. Affiliated tissues include eye and skin.

Aliases & Classifications for De Barsy Syndrome

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42NIH Rare Diseases, 60UMLS
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Classifications:

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Anatomical: Neuronal diseases


Aliases & Descriptions:

de barsy syndrome 42 60
corneal clouding, cutis laxa and mental retardation 42
cutis laxa growth deficiency syndrome 42
progeroid syndrome, de barsy type 42
progeroid syndrome of de barsy 42


Related Diseases for De Barsy Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to De Barsy Syndrome:



Diseases related to de barsy syndrome

Clinical Features for De Barsy Syndrome

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Drugs & Therapeutics for De Barsy Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for De Barsy Syndrome

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Anatomical Context for De Barsy Syndrome

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32MalaCards
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MalaCards organs/tissues related to De Barsy Syndrome:

32
Eye, Skin

Animal Models for De Barsy Syndrome or affiliated genes

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Publications for De Barsy Syndrome

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Genetic Variations for De Barsy Syndrome

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Expression for genes affiliated with De Barsy Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with De Barsy Syndrome

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Pathways for genes affiliated with De Barsy Syndrome

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Compounds for genes affiliated with De Barsy Syndrome

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to De Barsy Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline449.1FBN1, PYCR1
2hydroxyproline44 11 2410.8FBN1, PYCR1

GO Terms for genes affiliated with De Barsy Syndrome

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Products for genes affiliated with De Barsy Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for De Barsy Syndrome

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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