ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures

Generalized dominant 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		Generalized dominant dystrophic epidermolysis bullosa
	Synonym(s): - HANAC syndrome - Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome		Synonym(s): - Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types - DDEB, Pasini and Cockayne-Touraine types - DDEB, generalized - DDEB-gen

	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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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

Generalized dominant dystrophic epidermolysis bullosa
	Very frequent - Abnormal fingernails - Abnormal toenails - Autosomal dominant inheritance - Oral mucosa disease / cheilitis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal scarring / cheloids / hypertrophic scars - Irregular / patchy skin hypopigmentation - Multiple caries - Skin hypoplasia / aplasia / atrophy Occasional - Anaemia - Corneal ulceration / perforation - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Follicular / erythematous / edematous papules / milium - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Tracheo-esophageal fistula / esophageal atresia / stenosis - Urethral anomalies / stenosis / posterior urethral valves / megalocystis
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
(no data available)