MCID: DBR002
MIFTS: 24

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 abnormality of the fontanelles or cranial sutures, wide nasal bridge and cataract. An important gene associated with De Barsy Syndrome is FBN1 (Fibrillin 1). Affiliated tissues include skin, bone and eye.

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 iiia11.8
2cutis laxa, autosomal recessive, type iiib11.8
3aldh18a1-related cutis laxa11.1
4cutis laxa, autosomal recessive, type ia11.0
5cutis laxa10.1
6ehlers-danlos syndrome9.9
7geroderma osteodysplastica9.9
8corneal dystrophy pigmentary anomaly malabsorption9.5FBN1, PYCR1

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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Human phenotypes related to De Barsy Syndrome:

 64 (show all 32)
id Description HPO Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures64 hallmark (90%) HP:0000235
2 wide nasal bridge64 hallmark (90%) HP:0000431
3 cataract64 hallmark (90%) HP:0000518
4 cutis laxa64 hallmark (90%) HP:0000973
5 hyperextensible skin64 hallmark (90%) HP:0000974
6 muscular hypotonia64 hallmark (90%) HP:0001252
7 hyperreflexia64 hallmark (90%) HP:0001347
8 short stature64 hallmark (90%) HP:0004322
9 prematurely aged appearance64 hallmark (90%) HP:0007495
10 opacification of the corneal stroma64 hallmark (90%) HP:0007759
11 cognitive impairment64 hallmark (90%) HP:0100543
12 broad forehead64 typical (50%) HP:0000337
13 macrotia64 typical (50%) HP:0000400
14 downslanted palpebral fissures64 typical (50%) HP:0000494
15 aplasia/hypoplasia of the corpus callosum64 typical (50%) HP:0007370
16 aplasia/hypoplasia of the skin64 typical (50%) HP:0008065
17 abnormality of adipose tissue64 typical (50%) HP:0009124
18 abnormality of female external genitalia64 occasional (7.5%) HP:0000055
19 blue sclerae64 occasional (7.5%) HP:0000592
20 pectus excavatum64 occasional (7.5%) HP:0000767
21 abnormality of skin pigmentation64 occasional (7.5%) HP:0001000
22 adducted thumb64 occasional (7.5%) HP:0001181
23 flexion contracture64 occasional (7.5%) HP:0001371
24 joint dislocation64 occasional (7.5%) HP:0001373
25 joint hypermobility64 occasional (7.5%) HP:0001382
26 umbilical hernia64 occasional (7.5%) HP:0001537
27 chorea64 occasional (7.5%) HP:0002072
28 scoliosis64 occasional (7.5%) HP:0002650
29 genu recurvatum64 occasional (7.5%) HP:0002816
30 abnormality of the hip bone64 occasional (7.5%) HP:0003272
31 reduced bone mineral density64 occasional (7.5%) HP:0004349
32 aplasia/hypoplasia of the abdominal wall musculature64 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:

36
Skin, Bone, Eye

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
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