ODCs

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Autosomal dominant secondary polycythemia

2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Branchio-oculo-facial syndrome

1 OMIM reference -
1 associated gene
37 signs/symptoms

Autosomal dominant secondary polycythemia

Branchio-oculo-facial syndrome

EGLN1	(UniProt - OMIM)		TFAP2A	(UniProt - OMIM)
EPAS1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EPAS1	(0.63)	TFAP2A

Citations in the biomedical literature:

Autosomal dominant secondary polycythemia		Branchio-oculo-facial syndrome
	Synonym(s): - Autosomal dominant secondary erythrocytosis		Synonym(s): - BOFS

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

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
Autosomal dominant secondary polycythemia
(no data available)