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3 OMIM references -
2 associated genes
22 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Axenfeld-Rieger syndrome
Burkitt lymphoma

FOXC1 MYC
PITX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PITX2
(0.63)
MYC



Citations in the biomedical literature:


Axenfeld-Rieger syndrome
FOXC1 PITX2
Burkitt lymphoma
MYC



Axenfeld-Rieger syndrome
Burkitt lymphoma

Synonym(s):
- Axenfeld syndrome
- Rieger syndrome

Synonym(s):
- Small non-cleaved cell lymphoma

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

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

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: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: sporadic

External references:
3 OMIM references -
1 MeSH reference: C535679
External references:
1 OMIM reference -
2 MeSH references: D002051 / D008228

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


Burkitt lymphoma

(no data available)