ODCs

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2 OMIM references -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
17 signs/symptoms

Fibronectin glomerulopathy

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

FN1	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
			KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FN1	(0.72)	KRT5

Citations in the biomedical literature:

Fibronectin glomerulopathy		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Synonym(s): - GFND - Glomerulopathy with fibronectin deposits		Synonym(s): - Epidermolysis bullosa simplex, Koebner type - Epidermolysis bullosa simplex, KÃ¶bner type - Generalized EBS, non-Dowling-Meara type

	Classification (Orphanet): - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare skin 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535961

Fibronectin glomerulopathy		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	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 - Enanthema / aphtosa / aphta / leukoplakia - Mucosal / cutaneous hemorrhage - Muscle weakness / flaccidity - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Enamel anomaly - Follicular / erythematous / edematous papules / milium - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Palmoplantar hyperkeratosis / keratoderma - Ptosis - Respiratory rhythm disorder Occasional - Failure to thrive / difficulties for feeding in infancy / growth delay - Myasthenia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction