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1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7
1 OMIM reference -
1 associated gene
122 signs/symptoms
Donnai-Barrow syndrome
Oculocerebrorenal syndrome

LRP2 OCRL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LRP2
(0.03)
OCRL



Citations in the biomedical literature:


Donnai-Barrow syndrome
LRP2
Oculocerebrorenal syndrome
OCRL



Donnai-Barrow syndrome
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

Synonym(s):
- Lowe disease
- Lowe oculo-cerebro-renal syndrome
- Lowe syndrome
- OCR
- OCRL
- Oculo-cerebro-renal dystrophy
- Oculo-cerebro-renal syndrome
- Oculocerebrorenal dystrophy
- Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical thoracic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: x-linked recessive

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


COMMON
SIGNS
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Proteinuria
- Retinal / chorioretinal dysplasia / dystrophy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Umbilical hernia
- Visual loss / blindness / amblyopia


Donnai-Barrow syndrome
Oculocerebrorenal 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
- Large fontanelle / delayed fontanelle closure
- Myopia
- Sensorineural deafness / hearing loss
- Short / small nose

Frequent
- Broad forehead
- Diaphragmatic hernia / defect / agenesis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Omphalocele / exomphalos
- Proptosis / exophthalmos
- Retinal detachment

Occasional
- Coloboma of iris
- Intestinal / gut / bowel malrotation
- Retinoschisis / retinal / chorioretinal coloboma
- Stillbirth / neonatal death
- Uterine / uterus / Fallopian tubes anomalies
- Ventricular septal defect / interventricular communication


Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Aminoacid metabolism anomalies / aminoaciduria
- Areflexia / hyporeflexia
- Cataract / lens opacification
- Dehydration / hydroelectrolytic loss
- Early death in adulthood
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypercalciuria
- Hyponatremia
- Hypotonia
- Nystagmus
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Renal failure
- Renal glomerular defect / glomerulopathy
- Renal tubular defect / tubulopathy
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tics / stereotypias
- X-linked recessive inheritance

Frequent
- Arthritis / synovitis / synovial proliferation
- Auto-aggressivity / auto-mutilation
- Benign tumor of the brain / nervous system
- Broad cheeks / cherub-like / cherubin face
- Buphthalmos
- Constipation
- Deepset eyes / enophthalmos
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Dilated cerebral ventricles without hydrocephaly
- EEG anomalies
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Fine hair
- Frontal bossing / prominent forehead
- Glaucoma
- Hydrarthrosis / articular / joint effusion
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Hyperparathyroidy
- Hypokalemia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Long face
- Metabolic decompensation
- Mutiple fractures / bone fragility
- Myoclonus / fasciculations
- Obsessive-compulsive disorder
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Phosphocalcic metabolism anomalies
- Prominent / bat ears
- Scoliosis
- Skin tumors / lumps / epidermal cysts
- Thrombocytopenia / thrombopenia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vitamin D deficiency

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Abnormal scarring / cheloids / hypertrophic scars
- Alveolysis / paraodontitis
- Anaemia
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus
- Atelectasia / pulmonary collapse
- Azoospermia / oligospermia / asthenospermia
- Brachycephaly / flat occiput
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic / relapsing otitis
- Corneal clouding / opacity / vascularisation
- Defect / anomaly of lacrimal system
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dental cysts / tumors
- Dental malocclusion
- Dentine anomaly
- Diabetes insipidus
- Enamel anomaly
- Epiphyseal anomaly
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Genu valgum
- Gingivitis
- Hematuria / microhematuria
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperaldosteronism
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypoammonemia
- Hypophosphatemia
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Inguinal / inguinoscrotal / crural hernia
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Long philtrum
- Malabsorption / chronic diarrhea / steatorrhea
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mouth held open
- Multiple caries
- Oligosacchariduria
- Oral mucosa disease / cheilitis
- Patella dislocation
- Philtrum deeply grooved
- Platyspondyly
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Polycystic kidneys
- Prognathism / prognathia
- Protruding lips
- Renal / kidney calcifications / nephrocalcinosis
- Repeat respiratory infections
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Rib structure anomalies
- Strabismus / squint
- Taurodontia
- Thin / retracted lips
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Urinary / renal lithiasis / kidney stones / nephritic colic