ODCs

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Camurati-Engelmann disease

1 OMIM reference -
1 associated gene
49 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

Loeys-Dietz syndrome type 1

2 OMIM references -
2 associated genes
29 signs/symptoms

Camurati-Engelmann disease

Loeys-Dietz syndrome type 1

TGFB1	(UniProt - OMIM)		TGFBR1	(UniProt - OMIM)
			TGFBR2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TGFB1 TGFB1	(0.96) (0.9)	TGFBR1 TGFBR2

Citations in the biomedical literature:

Camurati-Engelmann disease		Loeys-Dietz syndrome type 1
	Synonym(s): - Progressive diaphyseal dysplasia		Synonym(s): - Aortic aneurysm syndrome due to TGF-beta receptors anomalies

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic 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: unknown 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: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D003966		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Flat foot - Marfanoid morphotype - Scoliosis

Camurati-Engelmann disease		Loeys-Dietz syndrome type 1
	Very frequent - Anomalies of spine, vertebrae and pelvis - Bone pain - Cortical anomaly / thick bone cortical layer - Diaphyseal anomaly - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Hyperostosis - Osteosclerosis / osteopetrosis / bone condensation - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Skull / cranial anomalies - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Frequent - Abnormal gait - Metaphyseal anomaly - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Restricted joint mobility / joint stiffness / ankylosis Occasional - Abnormal fat distribution / lipodystrophy - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anaemia - Anorexia - Ataxia / incoordination / trouble of the equilibrium - Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP - Bladder and ureter anomalies - Cardiomyopathy / hypertrophic / dilated - Delayed dentition / eruption of teeth / lack of eruption of teeth - Facial dysmorphism - Facial palsy - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Frontal bossing / prominent forehead - Genu valgum - Glaucoma - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Leukopenia / hypoleukocytosis - Lordosis - Multiple caries - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Proptosis / exophthalmos - Sensitive trouble / deficit - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Splenomegaly		Very frequent - Aortic dissection - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial rupture - High vaulted / narrow palate - Palate anomalies - Patent ductus arteriosus - Uterine rupture Frequent - Abnormal scarring / cheloids / hypertrophic scars - Blue sclerae - Camptodactyly of fingers - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flat cheek bones / malar hypoplasia - Long hand / arachnodactyly - Micrognathia / retrognathia / micrognathism / retrognathism - Striae - Tall stature / gigantism / growth acceleration Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Craniostenosis / craniosynostosis / sutural synostosis - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hyperextensible joints / articular hyperlaxity - Joint dislocation / subluxation - Pectus carinatum - Pectus excavatum - Thin skin