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Axenfeld-Rieger syndrome

3 OMIM references -
2 associated genes
22 signs/symptoms

PROTEIN INTERACTIONS: 1

Bosley-Salih-Alorainy syndrome

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

Axenfeld-Rieger syndrome

Bosley-Salih-Alorainy syndrome

FOXC1	(UniProt - OMIM)		HOXA1	(UniProt - OMIM)
PITX2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PITX2	(0.72)	HOXA1

Citations in the biomedical literature:

Axenfeld-Rieger syndrome		Bosley-Salih-Alorainy syndrome
	Synonym(s): - Axenfeld syndrome - Rieger syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease - Rare surgical cardiac disease

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 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 recessive

	External references: 3 OMIM references - 1 MeSH reference: C535679		External references: 1 OMIM reference - No MeSH references

Axenfeld-Rieger syndrome
	Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Autosomal dominant inheritance - Embryotoxon Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Everted lower lip - Glaucoma - Hearing loss / hypoacusia / deafness - Mid-facial hypoplasia / short / small midface Occasional - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Complete / partial microdontia - Depressed nasal bridge - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Hypospadias / epispadias / bent penis - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Loose skin / skin relaxation / excess skin / creases - Telecanthus / canthal dystopy
Bosley-Salih-Alorainy syndrome
(no data available)