ODCs

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Spondyloperipheral dysplasia - short ulna

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Camurati-Engelmann disease

1 OMIM reference -
1 associated gene
49 signs/symptoms

Spondyloperipheral dysplasia - short ulna

Camurati-Engelmann disease

COL2A1

(UniProt - OMIM)

TGFB1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.85)	TGFB1

Citations in the biomedical literature:

Spondyloperipheral dysplasia - short ulna		Camurati-Engelmann disease
	Synonym(s): (no synonyms)		Synonym(s): - Progressive diaphyseal dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

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

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535799		External references: 1 OMIM reference - 1 MeSH reference: D003966


COMMON SIGNS	- Autosomal dominant inheritance - Metaphyseal anomaly - Restricted joint mobility / joint stiffness / ankylosis - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Spondyloperipheral dysplasia - short ulna		Camurati-Engelmann disease
	Very frequent - Abnormal vertebral size / shape - Cone epiphyses / epiphysis - Metacarpal anomalies / Archibald's sign - Short hand / brachydactyly - Short stature / dwarfism / nanism Frequent - Epiphyseal vertebral anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Short limbs / micromelia / brachymelia Occasional - Pectus carinatum		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 Frequent - Abnormal gait - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity 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