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Branchio-oculo-facial syndrome

1 OMIM reference -
1 associated gene
37 signs/symptoms

PROTEIN INTERACTIONS: 1

Adrenocortical carcinoma

1 OMIM reference -
1 associated gene
No signs/symptoms info

Branchio-oculo-facial syndrome

Adrenocortical carcinoma

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TFAP2A	(0.9)	TP53

Citations in the biomedical literature:

Branchio-oculo-facial syndrome		Adrenocortical carcinoma
	Synonym(s): - BOFS		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare endocrine disease - Rare infertility - Rare oncologic disease - Rare renal disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D018268

Branchio-oculo-facial syndrome
	Very frequent - Autosomal dominant inheritance - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Conductive deafness / hearing loss - Dermoid sinus / dimple / pit (excluding sacral) - External ear anomalies - Low set ears / posteriorly rotated ears - Philtrum deeply grooved - Protruding lips - Retinoschisis / retinal / chorioretinal coloboma - Skin hypoplasia / aplasia / atrophy Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Coloboma of iris - Complete / partial microdontia - Defect / anomaly of lacrimal system - Dolichocephaly / scaphocephaly - Dysplastic / thick / grooved fingernails - High vaulted / narrow palate - Intrauterine growth retardation - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Premature greying of hair - Short columella / depressed nasal tip - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cataract / lens opacification - Cleft lip and palate - Lip pits / fistulae - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcornea - Multicystic kidney / renal dysplasia - Preaxial polydactyly (hand) - Ptosis - Strabismus / squint
Adrenocortical carcinoma
(no data available)