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Axenfeld anomaly
2 OMIM references -
2 associated genes
35 connected diseases
No signs/symptoms info
Disease Type of connection
Axenfeld-Rieger syndrome
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):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
FOXC1 Q12948601090
PITX2 Q99697601542
No signs/symptoms info available.