Axenfeld-Rieger syndrome |
Athabaskan brainstem dysgenesis syndrome |
FOXC1 | HOXA1 | |||
PITX2 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
PITX2 | (0.72) | HOXA1 | |
Citations in the biomedical literature:
Axenfeld-Rieger syndrome |
Athabaskan brainstem dysgenesis syndrome |
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Synonym(s): - Axenfeld syndrome- Rieger syndrome | Synonym(s): - ABSD- Athabascan brainstem dysgenesis syndrome - Navajo brainstem syndrome | ||
Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease | Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease | ||
Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
| Classification (ICD10): (no data available)
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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 - 1 MeSH reference: C535397 | ||
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 | |
Athabaskan brainstem dysgenesis syndrome | |
(no data available) |