Cytoscape Web
Click node...

Donnai-Barrow syndrome
1 OMIM reference -
1 associated gene
37 connected diseases
29 signs/symptoms
Disease Type of connection
Homozygous familial hypercholesterolemia
Rare isolated myopia
Hyperlipidemia type 3
Lipoprotein glomerulopathy
Sea-blue histiocytosis
Familial lipoprotein lipase deficiency
Hyperlipoproteinemia type 5
Quebec platelet disorder
Romano-Ward syndrome
Lethal congenital contracture syndrome type 3
X-linked non-syndromic intellectual deficit
Gräsbeck-Imerslund disease
Familial amyloid polyneuropathy
Familial thyroid dyshormonogenesis
Transthyretin-related familial amyloid cardiomyopathy
Chronic myeloid leukemia
Congenital analbuminemia
Dentatorubral pallidoluysian atrophy
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Congenital plasminogen activator inhibitor type 1 deficiency
MODY syndrome
Permanent neonatal diabetes mellitus
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Dent disease type 2
Oculocerebrorenal syndrome
Synonym(s):
- DBS/FOAR syndrome
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome
- Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
- FOAR syndrome
- Facio-oculo-acoustico-renal syndrome
- Holmes-Schepens syndrome
- Syndrome of ocular and facial anomalies, telecanthus and deafness
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical thoracic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536390
Gene symbol UniProt reference OMIM reference
LRP2 P98164600073
Very frequent
- Autosomal recessive inheritance
- Corpus callosum / septum pellucidum total / partial agenesis
- Depressed nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High hair line (front) / widow peak
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Myopia
- Proteinuria
- Sensorineural deafness / hearing loss
- Short / small nose

Frequent
- Broad forehead
- Diaphragmatic hernia / defect / agenesis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Omphalocele / exomphalos
- Proptosis / exophthalmos
- Retinal detachment
- Umbilical hernia
- Visual loss / blindness / amblyopia

Occasional
- Coloboma of iris
- Intestinal / gut / bowel malrotation
- Retinal / chorioretinal dysplasia / dystrophy
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Stillbirth / neonatal death
- Uterine / uterus / Fallopian tubes anomalies
- Ventricular septal defect / interventricular communication