ODCs

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2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 associated gene
30 signs/symptoms

Familial porencephaly

Recessive dystrophic epidermolysis bullosa-generalized other

COL4A1	(UniProt - OMIM)		COL7A1	(UniProt - OMIM)
COL4A2	(UniProt - OMIM)


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

Citations in the biomedical literature:

Familial porencephaly		Recessive dystrophic epidermolysis bullosa-generalized other
	Synonym(s): (no synonyms)		Synonym(s): - Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis - Autosomal recessive dystrophic epidermolysis bullosa, generalized other - Generalized mitis RDEB - RDEB generalisata mitis - RDEB, non-Hallopeau-Siemens type - RDEB-O - RDEB-generalized other - Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 2 OMIM references - 1 MeSH reference: C536850		External references: No OMIM references No MeSH references

Recessive dystrophic epidermolysis bullosa-generalized other
	Very frequent - Abnormal fingernails - Abnormal scarring / cheloids / hypertrophic scars - Abnormal toenails - Autosomal recessive inheritance - Follicular / erythematous / edematous papules / milium - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Ankyloglossia / lingual synechiae - Anus / rectum anomalies - Constipation - Enanthema / aphtosa / aphta / leukoplakia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Microstomia / little mouth - Multiple caries - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Tracheo-esophageal fistula / esophageal atresia / stenosis Occasional - Alopecia - Anaemia - Anomalies of eyelids, eyelashes and lacrimal system - Corneal ulceration / perforation - Cryptophthalmia / ankyloblepharon / synblepharon - Ectropion / entropion / eyelid eversion - Failure to thrive / difficulties for feeding in infancy / growth delay - Hair and scalp anomalies - Late puberty / hypogonadism / hypogenitalism - Musculo-tendinous retractions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Skin hypoplasia / aplasia / atrophy - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Visual loss / blindness / amblyopia
Familial porencephaly
(no data available)