MCID: DBR002
MIFTS: 27

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:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for De Barsy Syndrome:

Name: De Barsy Syndrome 45 51 65
Progeroid Syndrome, De Barsy Type 45 51
Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome 51
 
Corneal Clouding, Cutis Laxa and Mental Retardation 45
Cutis Laxa Growth Deficiency Syndrome 45
Progeroid Syndrome of De Barsy 45

Characteristics:

Orphanet epidemiological data:

51
de barsy syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

Classifications:



External Ids:

Orphanet51 2962
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C535990
UMLS via Orphanet66 C0268354
UMLS65 C0268354

Summaries for De Barsy Syndrome

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NIH Rare Diseases:45 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 pycr1-related de barsy syndrome and aldh18a1-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). Affiliated tissues include skin, eye and bone.

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:

 51 (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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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:

33
Skin, Eye, Bone, Kidney, Heart

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
Kidney retransplantation for BK virus nephropathy with active viremia without allograft nephrectomy. (25910469)
2015
2
The T29C (rs1800470) polymorphism of the transforming growth factor-I^1 (TGF-I^1) gene is associated with restenosis after coronary stenting in Mexican patients. (25449332)
2015
3
Mediastinal Glomus Tumor: A Case Report and Literature Review. (26265686)
2015
4
Genetic variation and cerebrospinal fluid levels of mannose binding lectin in pneumococcal meningitis patients. (23741476)
2013
5
Preeclampsia-associated stresses activate Gadd45a signaling and sFlt-1 in placental explants. (22718299)
2013
6
Paraneoplastic pemphigus without an underlying neoplasm. (17300250)
2007
7
Expression of inflammatory mediators in meningitis]. (17760391)
2007
8
Microsporidiosis: current status. (16940873)
2006
9
Genetic anomalies detected in patients with non-obstructive azoospermia and oligozoospermia. (16728341)
2006
10
Human granulocytic ehrlichiosis in Germany: evidence from serological studies, tick analyses, and a case of equine ehrlichiosis. (12860611)
2003
11
Claudin-based barrier in simple and stratified cellular sheets. (12231346)
2002
12
Coagulation factor VII in middle-aged women with and without coronary heart disease. (11372669)
2001
13
Expression of fibroblast growth factor 2 mRNA in early and advanced gastric cancer. (9490085)
1997
14
Cumene hydroperoxide-mediated inactivation of cytochrome P450 2B1. Identification of an active site heme-modified peptide. (8416964)
1993
15
Angiotensin converting enzyme system in the normal canine eye: pharmacological and physiological aspects. (1648119)
1991

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet