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1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
11 signs/symptoms
Familial multiple meningioma
Spondylometaphyseal dysplasia, Schmidt type

MN1 COL2A1
PDGFB
SMARCB1
SMARCE1
SUFU


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PDGFB
(0.68)
COL2A1



Citations in the biomedical literature:


Familial multiple meningioma
MN1 PDGFB SMARCB1 SMARCE1 SUFU
Spondylometaphyseal dysplasia, Schmidt type
COL2A1



Familial multiple meningioma
Spondylometaphyseal dysplasia, Schmidt type

Synonym(s):
(no synonyms)

Synonym(s):
- Spondylometaphyseal dysplasia with severe genu valgum
- Spondylometaphyseal dysplasia, Algerian type

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:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Spondylometaphyseal dysplasia, Schmidt type

Very frequent
- Autosomal dominant inheritance
- Genu valgum
- Kyphosis
- Metaphyseal anomaly
- Myopia
- Scoliosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Abnormal vertebral size / shape
- Joint / articular deformation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality



Familial multiple meningioma

(no data available)