ODCs

Click node...

1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Acral dystrophic epidermolysis bullosa

Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL7A1	(0.75)	COL4A1

Citations in the biomedical literature:

Acral dystrophic epidermolysis bullosa		Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
	Synonym(s): - DEB, acral - DEB-ac		Synonym(s): - HANAC syndrome - Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

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

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

	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: childhood Average age of death: no data available Type of inheritance: autosomal dominant

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

Acral dystrophic epidermolysis bullosa
	Very frequent - Autosomal dominant inheritance - Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium - Nails anomalies - Skin hypoplasia / aplasia / atrophy - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
(no data available)