MCID: DBR002
MIFTS: 26

De Barsy Syndrome malady

Categories: Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Fetal diseases, Mental diseases

Aliases & Classifications for De Barsy Syndrome

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Sources:
46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for De Barsy Syndrome:

Name: De Barsy Syndrome 46 52 66
Progeroid Syndrome, De Barsy Type 46 52
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome 52
 
Corneal Clouding, Cutis Laxa and Mental Retardation 46
Cutis Laxa Growth Deficiency Syndrome 46
Progeroid Syndrome of De Barsy 46

Characteristics:

Orphanet epidemiological data:

52
de barsy syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

Classifications:



External Ids:

Orphanet52 ORPHA2962
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C535990
UMLS via Orphanet67 C0268354

Summaries for De Barsy Syndrome

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NIH Rare Diseases:46 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, de barsy type, is related to cutis laxa, autosomal recessive, type iiia and cutis laxa, autosomal recessive, type iiib, and has symptoms including abnormality of the fontanelles or cranial sutures, wide nasal bridge and cataract. An important gene associated with De Barsy Syndrome is PYCR1 (Pyrroline-5-Carboxylate Reductase 1). Affiliated tissues include skin, eye and bone.

Related Diseases for De Barsy Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1cutis laxa, autosomal recessive, type iiia11.7
2cutis laxa, autosomal recessive, type iiib11.6
3aldh18a1-related cutis laxa11.3
4cutis laxa10.2
5cutis laxa, autosomal recessive, type ia10.1
6ehlers-danlos syndrome10.0
7geroderma osteodysplastica10.0
8corneal dystrophy pigmentary anomaly malabsorption9.5FBN1, PYCR1

Graphical network of diseases related to De Barsy Syndrome:



Diseases related to de barsy syndrome

Symptoms for De Barsy Syndrome

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HPO human phenotypes related to De Barsy Syndrome:

(show all 32)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 wide nasal bridge hallmark (90%) HP:0000431
3 cataract hallmark (90%) HP:0000518
4 cutis laxa hallmark (90%) HP:0000973
5 hyperextensible skin hallmark (90%) HP:0000974
6 muscular hypotonia hallmark (90%) HP:0001252
7 hyperreflexia hallmark (90%) HP:0001347
8 short stature hallmark (90%) HP:0004322
9 prematurely aged appearance hallmark (90%) HP:0007495
10 opacification of the corneal stroma hallmark (90%) HP:0007759
11 cognitive impairment hallmark (90%) HP:0100543
12 broad forehead typical (50%) HP:0000337
13 macrotia typical (50%) HP:0000400
14 downslanted palpebral fissures typical (50%) HP:0000494
15 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
16 aplasia/hypoplasia of the skin typical (50%) HP:0008065
17 abnormality of adipose tissue typical (50%) HP:0009124
18 abnormality of female external genitalia occasional (7.5%) HP:0000055
19 blue sclerae occasional (7.5%) HP:0000592
20 pectus excavatum occasional (7.5%) HP:0000767
21 abnormality of skin pigmentation occasional (7.5%) HP:0001000
22 adducted thumb occasional (7.5%) HP:0001181
23 flexion contracture occasional (7.5%) HP:0001371
24 joint dislocation occasional (7.5%) HP:0001373
25 joint hypermobility occasional (7.5%) HP:0001382
26 umbilical hernia occasional (7.5%) HP:0001537
27 chorea occasional (7.5%) HP:0002072
28 scoliosis occasional (7.5%) HP:0002650
29 genu recurvatum occasional (7.5%) HP:0002816
30 abnormality of the hip bone occasional (7.5%) HP:0003272
31 reduced bone mineral density occasional (7.5%) HP:0004349
32 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318

UMLS symptoms related to De Barsy Syndrome:


athetosis, seizures, grimaces

Drugs & Therapeutics for De Barsy Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for De Barsy Syndrome

Genetic Tests for De Barsy Syndrome

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Anatomical Context for De Barsy Syndrome

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MalaCards organs/tissues related to De Barsy Syndrome:

34
Skin, Eye, Bone

Animal Models for De Barsy Syndrome or affiliated genes

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Publications for De Barsy Syndrome

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Articles related to De Barsy Syndrome:

(show all 17)
idTitleAuthorsYear
1
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. (26955101)
2016
2
De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities. (27379772)
2016
3
A case of de Barsy syndrome with a severe eye phenotype. (22887749)
2012
4
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. (22411858)
2012
5
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. (22052856)
2011
6
De Barsy syndrome and ATP6V0A2-CDG. (20010974)
2010
7
Anesthesia considerations for patients with de Barsy syndrome. (21056805)
2010
8
De Barsy syndrome: a review of the phenotype. (18388779)
2008
9
The De Barsy syndrome. (15330994)
2004
10
Congenital corneal opacification in De Barsy syndrome. (11176995)
2001
11
The de Barsy syndrome. (11297166)
2001
12
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. (9643297)
1998
13
Orthopaedic manifestations in de Barsy syndrome. (8113374)
1994
14
De Barsy syndrome: report of a case, literature review, and elastin gene expression studies of the skin. (1308362)
1992
15
Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome). (3491758)
1986
16
De Barsy syndrome--an autosomal recessive, progeroid syndrome. (4076251)
1985
17
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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Search GEO for disease gene expression data for De Barsy Syndrome.

Pathways for genes affiliated with De Barsy Syndrome

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GO Terms for genes affiliated with De Barsy Syndrome

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Sources for De Barsy Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet