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Craniosynostosis, Boston type
1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
Primary biliary cirrhosis
5 OMIM references -
8 associated genes
No signs/symptoms info
Craniosynostosis, Boston type
Primary biliary cirrhosis

MSX2
(UniProt - OMIM)
 IL12A
(UniProt - OMIM)
IL12RB1
(UniProt - OMIM)
IRF5
(UniProt - OMIM)
MMEL1
(UniProt)
POU2AF1
(UniProt - OMIM)
SPIB
(UniProt - OMIM)
TNFSF15
(UniProt - OMIM)
TNPO3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MSX2
(0.63)
POU2AF1


Citations in the biomedical literature:


Craniosynostosis, Boston type
MSX2
Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3



Craniosynostosis, Boston type
Primary biliary cirrhosis

Synonym(s):
- Craniosynostosis, Warman type
- Warman-Mulliken-Hayward syndrome
Synonym(s):
- Hanot syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare hepatic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the digestive 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: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
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


Primary biliary cirrhosis

(no data available)