ODCs

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

3 OMIM references -
2 associated genes
22 signs/symptoms

Athabaskan brainstem dysgenesis syndrome

Axenfeld-Rieger syndrome

HOXA1	(UniProt - OMIM)		FOXC1	(UniProt - OMIM)
			PITX2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HOXA1	(0.72)	PITX2

Citations in the biomedical literature:

Athabaskan brainstem dysgenesis syndrome		Axenfeld-Rieger syndrome
	Synonym(s): - ABSD - Athabascan brainstem dysgenesis syndrome - Navajo brainstem syndrome		Synonym(s): - Axenfeld syndrome - Rieger syndrome

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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		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: 1 OMIM reference - 1 MeSH reference: C535397		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
Athabaskan brainstem dysgenesis syndrome
(no data available)