Donnai-Barrow Syndrome malady
Categories: Genetic diseases, Rare diseases, Fetal diseases, Nephrological diseases, Ear diseases
Aliases & Descriptions for Donnai-Barrow Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: any age
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Nephrological diseases, Ear diseases
Developmental anomalies during embryogenesis
OMIM:50 The faciooculoacousticorenal (FOAR) syndrome was first described as comprising facial anomalies, ocular anomalies,... (222448) more...
MalaCards based summary: Donnai-Barrow Syndrome, also known as faciooculoacousticorenal syndrome, is related to diaphragmatic hernia exomphalos corpus callosum agenesis and obesity, and has symptoms including low-molecular-weight proteinuria, non-acidotic proximal tubulopathy and proteinuria. An important gene associated with Donnai-Barrow Syndrome is LRP2 (LDL Receptor Related Protein 2). Affiliated tissues include heart, brain and eye.
NIH Rare Diseases:46 Donnai barrow syndrome is an inherited disorder that affects many parts of the body. people with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). other features may include diaphragmatic hernia, omphalocele, and/or other abnormalities of the intestine or heart. affected people often have mild to moderate intellectual disability and developmental delay. donnai barrow syndrome is caused by changes (mutations) in the lrp2 gene and is inherited in an autosomal recessive manner. treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities. last updated: 11/5/2014
UniProtKB/Swiss-Prot:68 Donnai-Barrow syndrome: Rare autosomal recessive disorder characterized by major malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. The FOAR syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. DBS and FOAR were first described as distinct disorders but the classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR. Early reports noted that the 2 disorders shared many phenotypic features and may be identical. Although there is variability in the expression of some features (e.g., agenesis of the corpus callosum and proteinuria), DBS and FOAR are now considered to represent the same entity.
Genetics Home Reference:24 Donnai-Barrow syndrome is an inherited disorder that affects many parts of the body. This disorder is characterized by unusual facial features, including prominent, wide-set eyes with outer corners that point downward; a short bulbous nose with a flat nasal bridge; ears that are rotated backward; and a widow's peak hairline.
GeneReviews summary for NBK1878
Symptoms by clinical synopsis from OMIM:222448
Clinical features from OMIM:222448
Symptoms:52 (show all 28)
HPO human phenotypes related to Donnai-Barrow Syndrome:(show all 58)
UMLS symptoms related to Donnai-Barrow Syndrome:unspecified visual loss
MalaCards organs/tissues related to Donnai-Barrow Syndrome:34
Heart, Brain, Eye, Uterus
Articles related to Donnai-Barrow Syndrome:
UniProtKB/Swiss-Prot genetic disease variations for Donnai-Barrow Syndrome:68
Clinvar genetic disease variations for Donnai-Barrow Syndrome:5 (show all 15)
Copy number variations for Donnai-Barrow Syndrome from CNVD:6
Search GEO for disease gene expression data for Donnai-Barrow Syndrome.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet