Axenfeld-rieger syndrome, type 1

Preferred Label : Axenfeld-rieger syndrome, type 1;

Symbol : RIEG1;

CISMeF acronym : RGS; RIEG; RIEG1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RGS; Rieger syndrome, type 1; RIEG;

Description : Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies have also been associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). See 109120 for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities. Axenfeld-Rieger anomaly has also been observed in some patients with small vessel disease of the brain, see 607595. A closely related ocular disorder, iridogoniodysgenesis, can also be caused by mutation in the FOXC1 and PITX2 genes; see IRID1 (601631) and;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the paired-like homeodomain transcription factor-2 gene (PITX2, 601542.0001);

Prefixed ID : #180500;

Details

Origin ID

180500;

UMLS CUI

C3714873;

Automatic exact mappings (from CISMeF team)
- symbol withdrawn RIEG1 [HGNC gene]
Currated CISMeF NLP mapping
- Axenfeld-Rieger Syndrome, Type 1 [MeSH concept]
- Axenfeld-Rieger syndrome [ORDO Disease]
- Axenfeld-Rieger syndrome [MeSH concept]
- Axenfeld-Rieger syndrome [MeSH Supplementary Concept]
- Axenfeld-Rieger syndrome (disorder) [SNOMED CT concept]
- Axenfeld-Rieger syndrome type 1 [DO Concept]
- Irido-trabecular dysgenesis (disorder) [SNOMED CT concept]
- Rieger Syndrome Type 1 [NCIt concept]
- Rieger syndrome [Disease (Nov.)]
DO Cross reference
- Axenfeld-Rieger syndrome type 1 [DO Concept]
False automatic mappings
- PITX2 wt Allele [NCIt concept]
- obsolete regulator of G-protein signaling activity [GO term]
Genes related to phenotype
- Paired-like homeodomain transcription factor 2 [OMIM gene]
HPO term(s)
- Abnormality of the abdominal wall [HPO term]
- Abnormally prominent line of Schwalbe [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Aniridia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Glaucoma [HPO term]
- Heterogeneous [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the iris [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypospadias [HPO term]
- Megalocornea [HPO term]
- Microcornea [HPO term]
- Polycoria [HPO term]
- Posterior embryotoxon [HPO term]
- Prominent supraorbital ridges [HPO term]
- Rieger anomaly [HPO term]
- Short philtrum [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Variable expressivity [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Axenfeld-Rieger syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rieger Syndrome Type 1 [NCIt concept]

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