ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

Pretibial dystrophic epidermolysis bullosa


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

Citations in the biomedical literature:

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

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

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

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

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

Pretibial dystrophic epidermolysis bullosa
	Very frequent - Abnormal fingernails - Abnormal toenails - Autosomal dominant inheritance - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal scarring / cheloids / hypertrophic scars - Follicular / erythematous / edematous papules / milium - Pruritus / itching Occasional - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Lichen
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
(no data available)