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1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Familial multiple meningioma
Premature chromosome condensation with microcephaly and intellectual deficit

MN1 MCPH1
PDGFB
SMARCB1
SMARCE1
SUFU


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMARCB1
(0.68)
MCPH1



Citations in the biomedical literature:


Familial multiple meningioma
MN1 PDGFB SMARCB1 SMARCE1 SUFU
Premature chromosome condensation with microcephaly and intellectual deficit
MCPH1



Familial multiple meningioma
Premature chromosome condensation with microcephaly and intellectual deficit

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

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

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

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

Premature chromosome condensation with microcephaly and intellectual deficit

Very frequent
- Autosomal recessive inheritance
- Chromosomal or genetic anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism
- Sloping forehead
- Thin / retracted lips

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical anomaly / thick bone cortical layer
- Dilated cerebral ventricles without hydrocephaly
- Hypereflexia
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter



Familial multiple meningioma

(no data available)