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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Anaplastic ependymoma
Spondyloepimetaphyseal dysplasia congenita, Strudwick type

C11ORF95 COL2A1
RELA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RELA
(0.63)
COL2A1



Citations in the biomedical literature:


Anaplastic ependymoma
C11ORF95 RELA
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
COL2A1



Anaplastic ependymoma
Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Synonym(s):
- High-grade ependymoma

Synonym(s):
(no synonyms)

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Very frequent
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Lordosis
- Metaphyseal anomaly
- Platyspondyly
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism

Frequent
- Abnormal gait
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Flat face
- Genu valgum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Kyphosis
- Myopia
- Osteoarthritis
- Retinal detachment

Occasional
- Genu varum
- Odontoid hypoplasia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis
- Talipes-varus / metatarsal varus


Anaplastic ependymoma

(no data available)