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Ehlers-Danlos syndrome type 1

1 OMIM reference -
3 associated genes
29 signs/symptoms

PROTEIN INTERACTIONS: 1

Primary peritoneal carcinoma

1 associated gene
9 signs/symptoms

Ehlers-Danlos syndrome type 1

Primary peritoneal carcinoma

COL1A1	(UniProt - OMIM)		BRCA1	(UniProt - OMIM)
COL5A1	(UniProt - OMIM)
COL5A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL1A1	(0.63)	BRCA1

Citations in the biomedical literature:

Ehlers-Danlos syndrome type 1		Primary peritoneal carcinoma
	Synonym(s): - EDS I		Synonym(s): - EOPPC - Extra-ovarian primary peritoneal carcinoma - PPC - Primary peritoneal serous carcinoma - Serous surface papillary carcinoma

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare oncologic disease

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: normal Type of inheritance: unknown

	External references: 1 OMIM reference - 1 MeSH reference: C536194		External references: No OMIM references No MeSH references

Ehlers-Danlos syndrome type 1		Primary peritoneal carcinoma
	Very frequent - Autosomal dominant inheritance - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Skin hypoplasia / aplasia / atrophy - Thin skin Frequent - Aortic dilatation / dilation - Bruisability - Diaphragmatic hernia / defect / agenesis - Flat foot - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Genu recurvatum - Hallux valgus - Herniae - Inguinal / inguinoscrotal / crural hernia - Pectus carinatum - Pectus excavatum - Scoliosis - Umbilical hernia - Varices / varicous veins / venous insufficiency Occasional - Aortic dissection - Bladder / vesical diverticulum - Cardiac valvulopathy - Chronic arterial hypertension - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Oral synechiae / abnormal frenulae - Peritonitis / peritoneal abscess - Recurrent urinary infections - Retinal detachment - Skin tumors / lumps / epidermal cysts		Very frequent - Acute abdominal pain / colic - Anomalies of the abdominal wall - Constipation - Nausea / vomiting / regurgitation / merycism / hyperemesis - Neoplasms / tumors - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Peritoneal diseases - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Early death / lethality