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Fibronectin glomerulopathy

2 OMIM references -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Otospondylomegaepiphyseal dysplasia

1 OMIM reference -
2 associated genes
19 signs/symptoms

Fibronectin glomerulopathy

Otospondylomegaepiphyseal dysplasia

FN1	(UniProt - OMIM)		COL11A2	(UniProt - OMIM)
			COL2A1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FN1	(0.62)	COL2A1

Citations in the biomedical literature:

Fibronectin glomerulopathy		Otospondylomegaepiphyseal dysplasia
	Synonym(s): - GFND - Glomerulopathy with fibronectin deposits		Synonym(s): - OSMED

	Classification (Orphanet): - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Type of inheritance: autosomal recessive

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

Fibronectin glomerulopathy		Otospondylomegaepiphyseal dysplasia
	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 - Abnormal vertebral size / shape - Anteverted nares / nostrils - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Flattened nose - Mesomelic micromelia - Metaphyseal anomaly - Restricted joint mobility / joint stiffness / ankylosis - Sensorineural deafness / hearing loss Frequent - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Kyphosis - Lordosis Occasional - Carpal bones fusion / synostosis - Defect / anomaly of lacrimal system - Strabismus / squint - Ventricular septal defect / interventricular communication