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1 OMIM reference -
1 associated gene
49 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
6 associated genes
12 signs/symptoms
Camurati-Engelmann disease
Peters anomaly

TGFB1 CYP1B1
FOXC1
HDAC9
PAX6
PITX2
TGFB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGFB1
(0.75)
TGFB2



Citations in the biomedical literature:


Camurati-Engelmann disease
TGFB1
Peters anomaly
CYP1B1 FOXC1 HDAC9 PAX6 PITX2 TGFB2



Camurati-Engelmann disease
Peters anomaly

Synonym(s):
- Progressive diaphyseal dysplasia

Synonym(s):
- Peters congenital glaucoma

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
(no data available)

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: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D003966
External references:
1 OMIM reference -
1 MeSH reference: C537884

Camurati-Engelmann disease
Peters anomaly

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
- 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
- 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
- Anomalies of eyes and vision
- Autosomal recessive inheritance
- Microcornea

Frequent
- Corneal dystrophy

Occasional
- Anomalies of teeth and dentition
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Dental malocclusion
- Hypoplastic mandibula / partial absence of the mandibula
- Nystagmus