MCID: DBR002
MIFTS: 23

De Barsy Syndrome malady

Rare diseases, Neuronal diseases, Mental diseases categories

Summaries for De Barsy Syndrome

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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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44NIH Rare Diseases, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Aliases & Descriptions:

de barsy syndrome 44 63
corneal clouding, cutis laxa and mental retardation 44
cutis laxa growth deficiency syndrome 44
progeroid syndrome, de barsy type 44
progeroid syndrome of de barsy 44


Related Diseases for De Barsy Syndrome

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18GeneCards, 19GeneDecks
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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 iiib10.5
4ehlers-danlos syndrome10.2
5geroderma osteodysplastica10.2
6cutis laxa, autosomal recessive, type ia10.2
7cutis laxa, autosomal recessive, type ic10.2

Graphical network of diseases related to De Barsy Syndrome:



Diseases related to de barsy syndrome

Symptoms for De Barsy Syndrome

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Drugs & Therapeutics for De Barsy Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to De Barsy Syndrome:

34
Eye, Skin

Animal Models for De Barsy Syndrome or affiliated genes

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Publications for De Barsy Syndrome

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53PubMed
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Articles related to De Barsy Syndrome:

(show all 15)
idTitleAuthorsYear
1
A case of de Barsy syndrome with a severe eye phenotype. (22887749)
2012
2
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. (22411858)
2012
3
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. (22052856)
2011
4
De Barsy syndrome and ATP6V0A2-CDG. (20010974)
2010
5
Anesthesia considerations for patients with de Barsy syndrome. (21056805)
2010
6
De Barsy syndrome: a review of the phenotype. (18388779)
2008
7
The De Barsy syndrome. (15330994)
2004
8
Congenital corneal opacification in De Barsy syndrome. (11176995)
2001
9
The de Barsy syndrome. (11297166)
2001
10
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. (9643297)
1998
11
Orthopaedic manifestations in de Barsy syndrome. (8113374)
1994
12
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin. (1308362)
1992
13
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). (3491758)
1986
14
De Barsy syndrome--an autosomal recessive, progeroid syndrome. (4076251)
1985
15
De Barsy syndrome. (7163260)
1982

Variations for De Barsy Syndrome

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Expression for genes affiliated with De Barsy Syndrome

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2BioGPS, 16Gene 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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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to De Barsy Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline469.1FBN1, PYCR1
2hydroxyproline46 25 1210.8FBN1, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet