MCID: DBR002
MIFTS: 15

De Barsy Syndrome malady

Neuronal category

Summaries for De Barsy Syndrome

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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 skin.

Aliases & Classifications for De Barsy Syndrome

Sources:
43NIH Rare Diseases, 61UMLS
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Classifications:

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


Aliases & Descriptions:

de barsy syndrome 43 61
corneal clouding, cutis laxa and mental retardation 43
cutis laxa growth deficiency syndrome 43
progeroid syndrome, de barsy type 43
progeroid syndrome of de barsy 43


Related Diseases for De Barsy Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to De Barsy Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cutis laxa30.5FBN1, PYCR1
2cutis laxa, autosomal recessive, type iiia10.5
3cutis laxa, autosomal recessive, type iiib10.4
4type i ehlers-danlos syndrome10.2
5ehlers–danlos syndrome10.2
6efemp2-related cutis laxa10.2
7pycr1-related cutis laxa10.2
8cutis laxa, autosomal recessive, type ic10.2

Graphical network of diseases related to De Barsy Syndrome:



Diseases related to de barsy syndrome

Clinical Features for De Barsy Syndrome

Drugs & Therapeutics for De Barsy Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for De Barsy Syndrome

Search CenterWatch for De Barsy Syndrome

Genetic Tests for De Barsy Syndrome

Anatomical Context for De Barsy Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to De Barsy Syndrome:

33
Skin

Animal Models for De Barsy Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for De Barsy Syndrome

Sources:
51PubMed
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Articles related to De Barsy Syndrome:

idTitleAuthorsYear
1
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. (9643297)
1998

Genetic Variations for De Barsy Syndrome

Expression for genes affiliated with De Barsy Syndrome

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

Search GEO for disease gene expression data for De Barsy Syndrome.

Pathways for genes affiliated with De Barsy Syndrome

Compounds for genes affiliated with De Barsy Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to De Barsy Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline459.1FBN1, PYCR1
2hydroxyproline45 11 2410.8FBN1, PYCR1

GO Terms for genes affiliated with De Barsy Syndrome

Products for genes affiliated with De Barsy Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for De Barsy Syndrome

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