ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
32 signs/symptoms

Familial adenomatous polyposis due to 5q22.2 microdeletion

Osteopathia striata - cranial sclerosis


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

Citations in the biomedical literature:

Familial adenomatous polyposis due to 5q22.2 microdeletion		Osteopathia striata - cranial sclerosis
	Synonym(s): - Colorectal adenomatous polyposis due to monosomy 5q22.2 - FAP due to monosomy 5q22.2 - Familial adenomatous polyposis due to del(5)(q22.2) - Familial adenomatous polyposis due to monosomy 5q22.2 - Familial polyposis coli due to monosomy 5q22.2		Synonym(s): - Hyperostosis generalisata with striations - Robinow-Unger syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic 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: No OMIM references No MeSH references		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
Familial adenomatous polyposis due to 5q22.2 microdeletion
(no data available)