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Axenfeld anomaly

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

COMMON GENES: 2
PROTEIN INTERACTIONS: 1

Axenfeld-Rieger syndrome

3 OMIM references -
2 associated genes
22 signs/symptoms

Axenfeld anomaly

Axenfeld-Rieger syndrome

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


COMMON GENES	FOXC1 PITX2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FOXC1	(0.76)	PITX2

Citations in the biomedical literature:

Axenfeld anomaly		Axenfeld-Rieger syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Axenfeld syndrome - Rieger syndrome

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

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 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: 3 OMIM references - 1 MeSH reference: C535679

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
Axenfeld anomaly
(no data available)