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Fibronectin glomerulopathy

2 OMIM references -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Bowen-Conradi syndrome

1 OMIM reference -
1 associated gene
20 signs/symptoms

Fibronectin glomerulopathy

Bowen-Conradi syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FN1	(0.72)	EMG1

Citations in the biomedical literature:

Fibronectin glomerulopathy		Bowen-Conradi syndrome
	Synonym(s): - GFND - Glomerulopathy with fibronectin deposits		Synonym(s): - Bowen syndrome, Hutterite type

	Classification (Orphanet): - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the genitourinary system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537081

Fibronectin glomerulopathy		Bowen-Conradi syndrome
	Very frequent - Autosomal dominant inheritance - Chronic arterial hypertension - Edema of the legs / lower limbs - Functional anomalies of the kidney and the urinary tract - Hematuria / microhematuria - Nephrotic syndrome - Proteinuria - Renal failure - Renal glomerular defect / glomerulopathy Occasional - Intracranial / cerebral / meningeal hemorrhage		Very frequent - Autosomal recessive inheritance - Death in infancy - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large / bulbous nose - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Sloping forehead Frequent - Camptodactyly of fingers - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Intrauterine growth retardation - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Cleft lip and palate - Congenital cardiac anomaly / malformation / cardiopathy - Dilated cerebral ventricles without hydrocephaly - Seizures / epilepsy / absences / spasms / status epilepticus