MCID: DBR002
MIFTS: 28

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:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for De Barsy Syndrome:

Name: De Barsy Syndrome 48 54 68
Progeroid Syndrome, De Barsy Type 48 54
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome 54
 
Corneal Clouding, Cutis Laxa and Mental Retardation 48
Cutis Laxa Growth Deficiency Syndrome 48
Progeroid Syndrome of De Barsy 48

Characteristics:

Orphanet epidemiological data:

54
de barsy syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

Classifications:



External Ids:

Orphanet54 ORPHA2962
MESH via Orphanet40 C535990
UMLS via Orphanet69 C0268354
ICD10 via Orphanet31 Q87.8

Summaries for De Barsy Syndrome

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NIH Rare Diseases:48 De barsy syndrome is a rare genetic disorder originally described in 1968 and classified as a form of cutis laxa. cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, and lacking elasticity. the specific symptoms and the severity of de barsy syndrome can vary greatly. features that may be seen include eye abnormalities, growth abnormalities, and a prematurely-aged appearance. distinctive facial features, skeletal malformations, and neurological abnormalities may also occur. some cases of de barsy syndrome have been linked to mutations in either the pycr1 or aldh18a1 genes. de barsy syndrome is inherited in an autosomal recessive manner. there are no standardized treatment protocols; treatment generally focuses on the signs and symptoms present in each individual. last updated: 10/20/2016

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 athetosis, seizures and grimacing. An important gene associated with De Barsy Syndrome is ALDH18A1 (Aldehyde Dehydrogenase 18 Family Member A1), and among its related pathways are Carbon metabolism and Amino Acid metabolism. Affiliated tissues include skin and eye.

Related Diseases for De Barsy Syndrome

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Graphical network of diseases related to De Barsy Syndrome:



Diseases related to de barsy syndrome

Symptoms & Phenotypes for De Barsy Syndrome

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UMLS symptoms related to De Barsy Syndrome:


athetosis, seizures, grimacing

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:

36
Skin, Eye

Publications for De Barsy Syndrome

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Articles related to De Barsy Syndrome:

(show all 17)
idTitleAuthorsYear
1
De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities. (27379772)
2016
2
A 5-year Journey with Cutis Laxa in an Indian Child: The De Barsy Syndrome Revisited. (26955101)
2016
3
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. (22411858)
2012
4
A case of de Barsy syndrome with a severe eye phenotype. (22887749)
2012
5
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. (22052856)
2011
6
Anesthesia considerations for patients with de Barsy syndrome. (21056805)
2010
7
De Barsy syndrome and ATP6V0A2-CDG. (20010974)
2010
8
De Barsy syndrome: a review of the phenotype. (18388779)
2008
9
The De Barsy syndrome. (15330994)
2004
10
The de Barsy syndrome. (11297166)
2001
11
Congenital corneal opacification in De Barsy syndrome. (11176995)
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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Clinvar genetic disease variations for De Barsy Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ALDH18A1NM_ 002860.3(ALDH18A1): c.2131delC (p.Leu711Cysfs)deletionPathogenicrs587777858GRCh38Chr 10, 95610272: 95610272
2ALDH18A1NG_ 012258.1: g.47945_ 49467del1523deletionPathogenicGRCh38Chr 10, 95612344: 95613866
3ALDH18A1NM_ 002860.3(ALDH18A1): c.251G> A (p.Arg84Gln)SNVPathogenicrs121434582GRCh37Chr 10, 97402801: 97402801
4ALDH18A1NM_ 002860.3(ALDH18A1): c.2350C> T (p.His784Tyr)SNVPathogenicrs121434583GRCh37Chr 10, 97366557: 97366557
5ALDH18A1NM_ 002860.3(ALDH18A1): c.2294G> A (p.Arg765Gln)SNVLikely pathogenicrs537043237GRCh38Chr 10, 95606856: 95606856
6ALDH18A1NM_ 002860.3(ALDH18A1): c.2345A> G (p.Tyr782Cys)SNVPathogenicrs774047299GRCh38Chr 10, 95606805: 95606805
7ALDH18A1NM_ 002860.3(ALDH18A1): c.1923+1G> ASNVPathogenicrs863223315GRCh38Chr 10, 95613741: 95613741

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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Biological processes related to De Barsy Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid biosynthetic processGO:00086529.6ALDH18A1, PYCR1
2L-proline biosynthetic processGO:00551299.5ALDH18A1, PYCR1
3proline biosynthetic processGO:00065619.3ALDH18A1, PYCR1

Molecular functions related to De Barsy Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activityGO:00164919.3ALDH18A1, PYCR1

Sources for De Barsy Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet