ODCs

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Camurati-Engelmann disease

1 OMIM reference -
1 associated gene
49 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

17p13.3 microduplication syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

Camurati-Engelmann disease

17p13.3 microduplication syndrome

TGFB1	(UniProt - OMIM)		PAFAH1B1	(UniProt - OMIM)
			YWHAE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TGFB1	(0.88)	YWHAE

Citations in the biomedical literature:

Camurati-Engelmann disease		17p13.3 microduplication syndrome
	Synonym(s): - Progressive diaphyseal dysplasia		Synonym(s): - 17p13.3 duplication syndrome - Dup(17)(p13.3) - Trisomy 17p13.3

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: - Type of inheritance: sporadic

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


COMMON SIGNS	- Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana

Camurati-Engelmann disease		17p13.3 microduplication syndrome
	Very frequent - Anomalies of spine, vertebrae and pelvis - Autosomal dominant inheritance - 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 - Flat foot - Genu valgum - Glaucoma - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Kyphosis - Late puberty / hypogonadism / hypogenitalism - Leukopenia / hypoleukocytosis - Lordosis - Marfanoid morphotype - Multiple caries - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Proptosis / exophthalmos - Scoliosis - Sensitive trouble / deficit - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Splenomegaly		Very frequent - Broad nose / nasal bridge - High forehead - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microstomia / little mouth - Short / small nose Frequent - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Low set ears / posteriorly rotated ears - Short neck Occasional - Clinodactyly of fifth finger - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - High vaulted / narrow palate - Inguinal / inguinoscrotal / crural hernia - Micropenis / small penis / agenesis - Tall stature / gigantism / growth acceleration