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Acral dystrophic epidermolysis bullosa

1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Fibronectin glomerulopathy

2 OMIM references -
1 associated gene
10 signs/symptoms

Acral dystrophic epidermolysis bullosa

Fibronectin glomerulopathy

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL7A1	(0.85)	FN1

Citations in the biomedical literature:

Acral dystrophic epidermolysis bullosa		Fibronectin glomerulopathy
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): - GFND - Glomerulopathy with fibronectin deposits

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare renal disease

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

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

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


COMMON SIGNS	- Autosomal dominant inheritance

Acral dystrophic epidermolysis bullosa		Fibronectin glomerulopathy
	Very frequent - Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium - Nails anomalies - Skin hypoplasia / aplasia / atrophy - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment		Very frequent - 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