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

Aliases & Descriptions for De Barsy Syndrome:

Name: De Barsy Syndrome 50 56 69
Progeroid Syndrome, De Barsy Type 50 56
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome 56
Corneal Clouding, Cutis Laxa and Mental Retardation 50
Cutis Laxa Growth Deficiency Syndrome 50
Progeroid Syndrome of De Barsy 50

Characteristics:

Orphanet epidemiological data:

56
de barsy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA2962
MESH via Orphanet 43 C535990
UMLS via Orphanet 70 C0268354
ICD10 via Orphanet 34 Q87.8

Summaries for De Barsy Syndrome

NIH Rare Diseases : 50 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/superpathways are Carbon metabolism and Amino Acid metabolism. Affiliated tissues include skin and eye.

Related Diseases for De Barsy Syndrome

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

id Related Disease Score Top Affiliating Genes
1 cutis laxa, autosomal recessive, type iiia 11.8
2 cutis laxa, autosomal recessive, type iiib 11.7
3 aldh18a1-related cutis laxa 11.1
4 cutis laxa, autosomal recessive, type ia 11.0
5 cutis laxa 10.1
6 ehlers-danlos syndrome 9.9
7 geroderma osteodysplastica 9.9
8 keratoacanthoma 9.6 ALDH18A1 FBN1 PYCR1
9 deafness peripheral neuropathy arterial disease 9.5 ALDH18A1 FBN1 PYCR1

Graphical network of the top 20 diseases related to De Barsy Syndrome:



Diseases related to De Barsy Syndrome

Symptoms & Phenotypes for De Barsy Syndrome

UMLS symptoms related to De Barsy Syndrome:


athetosis, seizures, grimacing

Drugs & Therapeutics for De Barsy Syndrome

Search Clinical Trials , NIH Clinical Center for De Barsy Syndrome

Genetic Tests for De Barsy Syndrome

Anatomical Context for De Barsy Syndrome

MalaCards organs/tissues related to De Barsy Syndrome:

39
Skin, Eye

Publications for De Barsy Syndrome

Articles related to De Barsy Syndrome:

(show all 17)
id Title Authors Year
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

ClinVar genetic disease variations for De Barsy Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ALDH18A1 NM_002860.3(ALDH18A1): c.251G> A (p.Arg84Gln) single nucleotide variant Pathogenic rs121434582 GRCh37 Chromosome 10, 97402801: 97402801
2 ALDH18A1 NM_002860.3(ALDH18A1): c.2350C> T (p.His784Tyr) single nucleotide variant Pathogenic rs121434583 GRCh37 Chromosome 10, 97366557: 97366557
3 ALDH18A1 NM_002860.3(ALDH18A1): c.1923+1G> A single nucleotide variant Pathogenic rs863223315 GRCh38 Chromosome 10, 95613741: 95613741
4 ALDH18A1 NM_002860.3(ALDH18A1): c.2131delC (p.Leu711Cysfs) deletion Pathogenic rs587777858 GRCh38 Chromosome 10, 95610272: 95610272
5 ALDH18A1 NG_012258.1: g.47945_49467del1523 deletion Pathogenic GRCh38 Chromosome 10, 95612344: 95613866
6 ALDH18A1 NM_002860.3(ALDH18A1): c.2294G> A (p.Arg765Gln) single nucleotide variant Likely pathogenic rs537043237 GRCh38 Chromosome 10, 95606856: 95606856
7 ALDH18A1 NM_002860.3(ALDH18A1): c.2345A> G (p.Tyr782Cys) single nucleotide variant Pathogenic rs774047299 GRCh38 Chromosome 10, 95606805: 95606805

Expression for De Barsy Syndrome

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

Pathways for De Barsy Syndrome

GO Terms for De Barsy Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.16 ALDH18A1 PYCR1
2 proline biosynthetic process GO:0006561 8.96 ALDH18A1 PYCR1
3 L-proline biosynthetic process GO:0055129 8.62 ALDH18A1 PYCR1

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.62 ALDH18A1 PYCR1

Sources for De Barsy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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