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Fibrochondrogenesis

2 OMIM references -
2 associated genes
30 signs/symptoms

PROTEIN INTERACTIONS: 2

Ehlers-Danlos syndrome type 1

1 OMIM reference -
3 associated genes
29 signs/symptoms

Fibrochondrogenesis

Ehlers-Danlos syndrome type 1

COL11A1	(UniProt - OMIM)		COL1A1	(UniProt - OMIM)
COL11A2	(UniProt - OMIM)		COL5A1	(UniProt - OMIM)
			COL5A2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A1 COL11A1	(0.52) (0.52)	COL5A1 COL5A2

Citations in the biomedical literature:

Fibrochondrogenesis		Ehlers-Danlos syndrome type 1
	Synonym(s): (no synonyms)		Synonym(s): - EDS I

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		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 (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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536194

Fibrochondrogenesis		Ehlers-Danlos syndrome type 1
	Very frequent - Abnormal vertebral size / shape - Anomalies of the ribs - Autosomal recessive inheritance - Diaphyseal anomaly - Flared chest / bell-shaped thorax / shield chest - Large fontanelle / delayed fontanelle closure - Metaphyseal anomaly - Narrow rib cage / thorax - Proptosis / exophthalmos - Round face - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short neck - Short stature / dwarfism / nanism - Stillbirth / neonatal death Frequent - Absent / small fingernails / anonychia of hands - Anomalies of ear and hearing - Anteverted nares / nostrils - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly Occasional - Camptodactyly of fingers - Hypertelorism - Mesomelic micromelia - Omphalocele / exomphalos - Plagiocephaly		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