Aniridia 1 - CISMeF

Preferred Label : Aniridia 1;

Symbol : AN1;

CISMeF acronym : AN; AN1; AN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aniridia II; AN; AN2;

Included titles and symbols : Cataract, congenital, with late-onset corneal dystrophy;

Description : Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (Jordan et al., 1992). See also Gillespie syndrome (206700), in which aniridia is associated with cerebellar ataxia and mental retardation.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired box gene 6 gene (PAX6, 607108.0001);

Prefixed ID : #106210;

Details

Origin ID

106210;

UMLS CUI

C0344542;

Automatic exact mappings (from CISMeF team)
- Aniridia type 2 (disorder) [SNOMED CT concept]
- Anisometropia [MedDRA Preferred Term]
- Anorexia Nervosa [ICD-11 Category]
- Isolated aniridia [ORDO Disease]
- PAX6 wt Allele [NCIt concept]
- Per Year [NCIt concept]
- acanthosis nigricans [MeSH Descriptor]
- analysis [MeSH Qualifier]
- anisometropia [MeSH Descriptor]
- anisometropia [MeSH concept]
- anisometropia [SNOMED Notion]
- anode [MeSH concept]
- electrodes [MeSH Descriptor]
- paired box 6 [HGNC gene]
- per year (qualifier value) [SNOMED CT concept]
- symbol withdrawn AN1 [HGNC gene]
- year (qualifier value) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aniridia type 1 (disorder) [SNOMED CT concept]
DO Cross reference
- aniridia [DO Concept]
False automatic mappings
- Netherlands Antilles [NCIt concept]
- chromosome 11, deletion 11p [MeSH Supplementary Concept]
Genes related to phenotype
- Paired box gene 6 [OMIM gene]
HPO term(s)
- Aniridia [HPO term]
- Anterior subcapsular cataract [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Cataract [HPO term]
- Chorioretinal hypopigmentation [HPO term]
- Congenital onset [HPO term]
- Corneal erosion [HPO term]
- Corneal neovascularization [HPO term]
- Corneal opacity [HPO term]
- Ectopia lentis [HPO term]
- Ectopia pupillae [HPO term]
- Exotropia [HPO term]
- Glaucoma [HPO term]
- Glucose intolerance [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the fovea [HPO term]
- Hypoplasia of the iris [HPO term]
- Increased proinsulin:insulin ratio [HPO term]
- Macular agenesis [HPO term]
- Nystagmus [HPO term]
- Opacification of the corneal stroma [HPO term]
- Optic nerve hypoplasia [HPO term]
- Polymicrogyria [HPO term]
- Ptosis [HPO term]
- Retinal vascular tortuosity [HPO term]
- Strabismus [HPO term]
Matching ORDO disease(s)
- Aniridia [ORDO Disease]
ORDO concept(s)
- Isolated aniridia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- ANIRIDIA [WHO-ART Included Term]
- Absence of iris [ICD-10 Sub-category (who)]
- Absence of iris [ICD-10 Sub-category]
- Aniridia [MedDRA Preferred Term]
- Aniridia [ORDO Disease]
- Aniridia [NCIt concept]
- Aniridia [HPO term]
- Aniridia [ICD-9 code]
- Aniridia [ICD-11 Subcategory]
- Aniridia type 1 (disorder) [SNOMED CT concept]
- Congenital aniridia (disorder) [SNOMED CT concept]
- Isolated aniridia [ORDO Disease]
- aniridia [SNOMED Notion]
- aniridia [MeSH Descriptor]
- aniridia [MeSH concept]
- aniridia [DO Concept]
- aniridia [Disease (Nov.)]
- congenital aniridia [Disease (Nov.)]
Validated automatic mappings to NTBT
- ANIRIDIA [WHO-ART Included Term]
- Absence of iris [ICD-10 Sub-category]
- Absence of iris [ICD-10 Sub-category (who)]
- Aniridia [PASCAL descriptor]
- Aniridia [HPO term]
- Aniridia [MedDRA Preferred Term]
- Aniridia [NCIt concept]
- Aniridia [ORDO Disease]
- Congenital aniridia (disorder) [SNOMED CT concept]
- aniridia [Disease (Nov.)]
- aniridia [DO Concept]
- aniridia [MeSH Descriptor]
- aniridia [MeSH concept]
- aniridia [SNOMED Notion]

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