MCID: DBR002
MIFTS: 35

De Barsy Syndrome malady

Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases, Fetal diseases, Mental diseases categories

Summaries for De Barsy Syndrome

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NIH Rare Diseases:41 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 cutis laxa - corneal clouding - intellectual disability, is related to cutis laxa and pycr1-related de barsy syndrome, 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), and among its related pathways are Metabolism of amino acids and derivatives and Carbon metabolism. The compounds hydroxyproline and delta(1)pyrroline-5-carboxylate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone.

Aliases & Classifications for De Barsy Syndrome

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Sources:
41NIH Rare Diseases, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

De Barsy Syndrome, Aliases & Descriptions:

Name: De Barsy Syndrome 41 47 60
Cutis Laxa - Corneal Clouding - Intellectual Disability 41 47
Progeroid Syndrome, De Barsy Type 41 47
 
Corneal Clouding, Cutis Laxa and Mental Retardation 41
Cutis Laxa Growth Deficiency Syndrome 41
Progeroid Syndrome of De Barsy 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
de barsy syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood


External Ids:

Orphanet47 2962
MESH via Orphanet34 C535990
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0268354

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 for De Barsy Syndrome

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Symptoms:

 47 (show all 40)
  • large fontanelle/delayed fontanelle closure
  • corneal clouding/opacity/vascularisation
  • cataract/lens opacification
  • broad nasal root
  • anomalies of skin, subcutaneous tissue and mucosae
  • hyperelastic skin/cutaneous hyperlaxity
  • loose skin/skin relaxation/excess skin/creases
  • movement disorder
  • hypotonia
  • hypereflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • premature ageing
  • broad forehead
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • anomalies of nose and olfaction
  • long/large ear
  • anomalies of hands
  • skin hypoplasia/aplasia/atrophy
  • corpus callosum/septum pellucidum total/partial agenesis
  • abnormal fat distribution/lipodystrophy
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • blue sclerae
  • pectus excavatum
  • scoliosis
  • absent/hypotonic/flaccid abdominal wall muscles
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • genu recurvatum
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • hyperextensible joints/articular hyperlaxity
  • joint dislocation/subluxation
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • death in infancy

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

Drugs & Therapeutics for De Barsy Syndrome

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Drug clinical trials:

Search ClinicalTrials for De Barsy Syndrome

Search 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:

31
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 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

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Clinvar genetic disease variations for De Barsy Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PYCR1NM_006907.3(PYCR1): c.752G> A (p.Arg251His)single nucleotide variantPathogenicrs121918378GRCh37Chr 17, 79892247: 79892247
2ALDH18A1NM_002860.3(ALDH18A1): c.251G> A (p.Arg84Gln)single nucleotide variantPathogenicrs121434582GRCh37Chr 10, 97402801: 97402801
3ALDH18A1NM_002860.3(ALDH18A1): c.2350C> T (p.His784Tyr)single nucleotide variantPathogenicrs121434583GRCh37Chr 10, 97366557: 97366557
4ALDH18A1ALDH18A1, NT1923, G-A, +1single nucleotide variantPathogenic
5PYCR1NM_006907.3(PYCR1): c.769G> A (p.Ala257Thr)single nucleotide variantPathogenicrs281875318GRCh37Chr 17, 79892230: 79892230
6PYCR1PYCR1, 1-BP DEL, 345CdeletionPathogenic
7PYCR1NM_006907.3(PYCR1): c.743G> A (p.Gly248Glu)single nucleotide variantPathogenicrs281875319GRCh37Chr 17, 79892256: 79892256

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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Pathways related to De Barsy Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.0ALDH18A1, PYCR1
2
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.0ALDH18A1, PYCR1
3
Show member pathways
citrulline-nitric oxide cycle36
arginine degradation I (arginase pathway)36
proline degradation36
glutamine degradation I36
proline biosynthesis I36
superpathway of citrulline metabolism36
proline biosynthesis II (from arginine)36
citrulline biosynthesis36
arginine degradation VI (arginase 2 pathway)36
Urea cycle and metabolism of amino groups36
asparagine biosynthesis I36
4-hydroxyproline degradation I36
citrulline degradation36
9.0ALDH18A1, PYCR1

Compounds for genes affiliated with De Barsy Syndrome

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Sources:
43Novoseek, 24HMDB, 12DrugBank
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Compounds related to De Barsy Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1hydroxyproline43 24 1211.2FBN1, PYCR1
2delta(1)pyrroline-5-carboxylate439.1ALDH18A1, PYCR1
3abscisic acid439.1FBN1, ALDH18A1
4nadph43 2410.0ALDH18A1, PYCR1
5NADP248.7ALDH18A1, PYCR1
6proline438.6ALDH18A1, FBN1, PYCR1

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
1proline biosynthetic processGO:00065619.0ALDH18A1, PYCR1
2cellular nitrogen compound metabolic processGO:00346419.0ALDH18A1, PYCR1
3L-proline biosynthetic processGO:00551298.9ALDH18A1, PYCR1
4cellular amino acid biosynthetic processGO:00086528.7ALDH18A1, PYCR1

Products for genes affiliated with De Barsy Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for De Barsy Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet