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Parietal foramina
3 OMIM references -
2 associated genes
40 connected diseases
No signs/symptoms info
Disease Type of connection
Craniosynostosis, Boston type
Frontonasal dysplasia with alopecia and genital anomaly
Isolated scaphocephaly
Parietal foramina with cleidocranial dysplasia
Potocki-Shaffer syndrome
Split hand - split foot - deafness
Hypodontia - dysplasia of nails
Oligodontia
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Inherited acute myeloid leukemia
Cleidocranial dysplasia
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Anophthalmia / microphthalmia - esophageal atresia
Atrial septal defect, ostium secundum type
Colobomatous microphthalmia
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Familial atrial fibrillation
Familial partial lipodystrophy associated with PPARG mutations
Familial prostate cancer
Giant cell glioblastoma
Gliosarcoma
Glucocorticoid resistance
Isolated anophthalmia - microphthalmia
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Partial atrioventricular canal
Primary biliary cirrhosis
Recurrent infection due to specific granule deficiency
Septo-optic dysplasia
Single ventricular septal defect
Spinocerebellar ataxia type 1
Tetralogy of Fallot
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Synonym(s):
- Catlin marks
- Enlarged parietal foramina
- Foramina parietalia permagna
- Hereditary cranium bifidum
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ALX4 Q9H161605420
MSX2 P35548123101
No signs/symptoms info available.