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Xeroderma pigmentosum complementation group B

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
3 associated genes
17 signs/symptoms

Xeroderma pigmentosum complementation group B

BOR syndrome

ERCC3	(UniProt - OMIM)		EYA1	(UniProt - OMIM)
			SIX1	(UniProt - OMIM)
			SIX5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ERCC3	(0.49)	SIX5

Citations in the biomedical literature:

Xeroderma pigmentosum complementation group B		BOR syndrome
	Synonym(s): - XPB		Synonym(s): - Branchiootorenal syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D019280

BOR syndrome
	Very frequent - Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness Frequent - Agenesis / hypoplasia / aplasia of kidneys - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - External ear anomalies - Preauricular / branchial tags / appendages - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Structural anomalies of middle ear / ossicles / tympanic cavity Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Defect / anomaly of lacrimal system - External auditory canal atresia / stenosis / agenesis - Facial palsy - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Multicystic kidney / renal dysplasia - Renal failure - Vesicorenal / vesicoureteral reflux
Xeroderma pigmentosum complementation group B
(no data available)