MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandcataract associated with a metabolic disease (MONDO:0020228)
Parent Node:
expandcerebral organic aciduria (MONDO:0019213)
Parent Node:
expandcutis laxa (MONDO:0016175)
Parent Node:
expanddevelopmental anomaly of metabolic origin (MONDO:0015327)
Parent Node:
expandgenetic systemic or rheumatologic disease (MONDO:0017133)
Parent Node:
expandinborn disorder of proline metabolism (MONDO:0017355)
Parent Node:
expandmetabolic disease with cataract (MONDO:0020280)
Parent Node:
expandpremature aging (MONDO:0019303)
Parent Node:
expandrare hereditary metabolic disease with peripheral neuropathy (MONDO:0016133)
Parent Node:
expandsyndromic corneal dystrophy (MONDO:0020215)
..Starting node
..expandde Barsy syndrome ()

       Child Nodes:
........expandALDH18A1-related de Barsy syndrome ()
........expandPYCR1-related de Barsy syndrome ()



 Sister Nodes: 
..expandChandler syndrome ()
..expandcongenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ()
..expandcorneal dystrophy-perceptive deafness syndrome ()
..expandcorneal-cerebellar syndrome ()
..expandde Barsy syndrome ()
..expanddermochondrocorneal dystrophy ()
..expandFinnish type amyloidosis ()
..expandGoldenhar syndrome ()
..expandhereditary benign intraepithelial dyskeratosis ()
..expandJudge Misch wright syndrome ()
..expandMietens syndrome ()
..expandoculodental syndrome, Rutherfurd type ()
..expandophthalmomandibulomelic dysplasia ()
..expandspastic ataxia-corneal dystrophy syndrome ()
..expandStern-Lubinsky-Durrie syndrome ()
..expandsubaortic stenosis-short stature syndrome ()
..expandsyndromic recessive X-linked ichthyosis ()
..expandTELO2-related intellectual disability-neurodevelopmental disorder ()
..expandX-linked corneal dermoid ()
..expandX-linked reticulate pigmentary disorder ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17569
Name:de Barsy syndrome
Definition:De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:autosomal recessive cutis laxa type III; corneal clouding, cutis laxa and mental retardation; cutis laxa growth deficiency syndrome; cutis laxa-corneal clouding-intellectual disability syndrome; De Barsy syndrome; progeroid syndrome of de Barsy; progeroid syndrome, De Barsy type; progeroid syndrome,
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal