MCID: DBR002
MIFTS: 23

De Barsy Syndrome malady

Rare diseases, Neuronal diseases, Mental diseases categories
Download this MalaCard

Summaries for De Barsy Syndrome

About this section


Fully expand this MalaCard
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 based summary: De Barsy Syndrome, also known as progeroid syndrome of de barsy, is related to cutis laxa and cutis laxa, autosomal recessive, type iiib. 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

About this section

De Barsy Syndrome, Aliases & Descriptions:

Name: De Barsy Syndrome 42 62
Progeroid Syndrome of De Barsy 42 62
Corneal Clouding, Cutis Laxa and Mental Retardation 42
 
Cutis Laxa Growth Deficiency Syndrome 42
Progeroid Syndrome, De Barsy Type 42


Classifications:

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


Related Diseases for De Barsy Syndrome

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1cutis laxa30.4FBN1, PYCR1
2cutis laxa, autosomal recessive, type iiib10.6
3cutis laxa, autosomal recessive, type iiia10.5
4ehlers-danlos syndrome10.3
5geroderma osteodysplastica10.3
6cutis laxa, autosomal recessive, type ia10.3

Graphical network of diseases related to De Barsy Syndrome:



Diseases related to de barsy syndrome

Symptoms for De Barsy Syndrome

About this section

Drugs & Therapeutics for De Barsy Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for De Barsy Syndrome

Search NIH Clinical Center for De Barsy Syndrome

Genetic Tests for De Barsy Syndrome

About this section

Anatomical Context for De Barsy Syndrome

About this section

MalaCards organs/tissues related to De Barsy Syndrome:

32
Eye, Skin

Animal Models for De Barsy Syndrome or affiliated genes

About this section

Publications for De Barsy Syndrome

About this section

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

About this section

Expression for genes affiliated with De Barsy Syndrome

About this section
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

About this section

Compounds for genes affiliated with De Barsy Syndrome

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to De Barsy Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline449.1FBN1, PYCR1
2hydroxyproline44 24 1110.8FBN1, PYCR1

GO Terms for genes affiliated with De Barsy Syndrome

About this section

Products for genes affiliated with De Barsy Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for De Barsy Syndrome

About this section
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