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Axenfeld-Rieger syndrome
3 OMIM references -
2 associated genes
35 connected diseases
22 signs/symptoms
Disease Type of connection
Axenfeld anomaly
Peters anomaly
Rieger anomaly
Familial atrial fibrillation
Ring dermoid of cornea
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Precursor B-cell acute lymphoblastic leukemia
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
Aneurysm - osteoarthritis syndrome
Anophthalmia / microphthalmia - esophageal atresia
Burkitt lymphoma
Colobomatous microphthalmia
Familial thoracic aortic aneurysm and aortic dissection
Isolated anophthalmia - microphthalmia
Precursor T-cell acute lymphoblastic leukemia
Septo-optic dysplasia
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Panhypopituitarism
Williams syndrome
Synonym(s):
- Axenfeld syndrome
- Rieger syndrome
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 -
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:
3 OMIM references -
1 MeSH reference: C535679
Gene symbol UniProt reference OMIM reference
FOXC1 Q12948601090
PITX2 Q99697601542
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