Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
20 associated genes
No signs/symptoms info
Donnai-Barrow syndrome
Precursor B-cell acute lymphoblastic leukemia

LRP2 ABL1
AFF1
AUTS2
BCR
CDKN2A
ETV6
FLT3
FOXP1
GATA3
HLF
IGH
IKZF1
KMT2A
PAX5
PBX1
PDGFRA
PIP4K2A
RUNX1
TCF3
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LRP2
(0.63)
ABL1



Citations in the biomedical literature:


Donnai-Barrow syndrome
LRP2
Precursor B-cell acute lymphoblastic leukemia
ABL1 AFF1 AUTS2 BCR CDKN2A ETV6
FLT3 FOXP1 GATA3 HLF IGH IKZF1
KMT2A PAX5 PBX1 PDGFRA PIP4K2A RUNX1
TCF3 TP53



Donnai-Barrow syndrome
Precursor B-cell acute lymphoblastic leukemia

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

Synonym(s):
- B-ALL
- Precursor B-cell acute lymphoblastic leukemia/lymphoma
- Precursor B-cell acute lymphocytic leukemia
- Precursor B-cell acute lymphocytic leukemia/lymphoma

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical thoracic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

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
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C536390
External references:
1 OMIM reference -
No MeSH references

Donnai-Barrow syndrome

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


Precursor B-cell acute lymphoblastic leukemia

(no data available)