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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Craniosynostosis, Boston type
Spinocerebellar ataxia type 1

MSX2 ATXN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MSX2
(0.63)
ATXN1



Citations in the biomedical literature:


Craniosynostosis, Boston type
MSX2
Spinocerebellar ataxia type 1
ATXN1



Craniosynostosis, Boston type
Spinocerebellar ataxia type 1

Synonym(s):
- Craniosynostosis, Warman type
- Warman-Mulliken-Hayward syndrome

Synonym(s):
- SCA1

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
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

Craniosynostosis, Boston type

Very frequent
- Autosomal dominant inheritance
- Basilary impression / invagination / cranio-spinal malformation / platybasia
- Craniostenosis / craniosynostosis / sutural synostosis
- Flat supraorbital ridge

Frequent
- Frontal bossing / prominent forehead
- Myopia
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Fingerlike / triphalangeal thumb
- Seizures / epilepsy / absences / spasms / status epilepticus


Spinocerebellar ataxia type 1

(no data available)