ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
30 signs/symptoms

Autosomal dominant secondary polycythemia

6q25 microdeletion syndrome

EGLN1	(UniProt - OMIM)		ARID1B	(UniProt - OMIM)
EPAS1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EPAS1	(0.63)	ARID1B

Citations in the biomedical literature:

Autosomal dominant secondary polycythemia		6q25 microdeletion syndrome
	Synonym(s): - Autosomal dominant secondary erythrocytosis		Synonym(s): - Del(6)(q25) - Monosomy 6q25

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: - Type of inheritance: autosomal dominant

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

6q25 microdeletion syndrome
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Sensorineural deafness / hearing loss Frequent - Anomalies of eyes and vision - Broad nasal root - Corpus callosum / septum pellucidum total / partial agenesis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hypertelorism - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Plagiocephaly - Short stature / dwarfism / nanism - Structural anomalies of the nervous system Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Complete claw hand / camptodactyly of all fingers - Congenital cardiac anomaly / malformation / cardiopathy - Dilated cerebral ventricles without hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Pes talus - Seizures / epilepsy / absences / spasms / status epilepticus - Structural anomalies of the genital system - Upslanted palpebral fissures / mongoloid slanting palpebral fissures
Autosomal dominant secondary polycythemia
(no data available)