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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
32 signs/symptoms
Gardner syndrome
Osteopathia striata - cranial sclerosis

APC AMER1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
(0.63)
AMER1



Citations in the biomedical literature:


Gardner syndrome
APC
Osteopathia striata - cranial sclerosis
AMER1



Gardner syndrome
Osteopathia striata - cranial sclerosis

Synonym(s):
(no synonyms)

Synonym(s):
- Hyperostosis generalisata with striations
- Robinow-Unger syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant

External references:
1 OMIM reference -
1 MeSH reference: D005736
External references:
1 OMIM reference -
1 MeSH reference: C536053

Osteopathia striata - cranial sclerosis

Very frequent
- Autosomal dominant inheritance
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Metaphyseal anomaly
- Osteosclerosis / osteopetrosis / bone condensation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rough trabeculation of bone

Frequent
- Broad nasal root
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Flat face
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Scoliosis

Occasional
- Asymmetric rib cage / thorax
- Brachycephaly / flat occiput
- Cataract / lens opacification
- Enlargment of jaw / large jaw
- Epicanthic folds
- Facial palsy
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Lordosis
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Spina bifida occulta
- Stillbirth / neonatal death


Gardner syndrome

(no data available)