ORPHA:782
Axenfeld-Rieger syndrome
Synonyms: Axenfeld syndrome · Rieger syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Axenfeld-Rieger syndrome | Axenfeld syndrome · Rieger syndrome |
| fr | Syndrome d'Axenfeld-Rieger | Syndrome d'Axenfeld · Syndrome de Rieger |
| de | Axenfeld-Rieger-Syndrom | Axenfeld-Syndrom · Rieger-Syndrom |
| es | Síndrome de Axenfeld-Rieger | Síndrome de Axenfeld · Síndrome de Rieger |
| it | Sindrome di Axenfeld-Rieger | Sindrome di Axenfeld · Sindrome di Rieger |
| nl | Syndroom van Axenfeld-Rieger | Syndroom van Axenfeld · Syndroom van Rieger |
| pt | Síndrome Axenfeld-Rieger | Síndrome Rieger |
| pl | Zespół Axenfelda i Riegera | Zespół Axenfelda · Zespół Riegera |
| cs | Axenfeldův-Riegerův syndrom | Axenfeldův syndrom · Riegerův syndrom · Axenfeld-Riegerův syndrom |
| uk | Синдром Аксьонфельда-Рігера | Синдром Аксьонфельда · Синдром Рігера |
| zh | Axenfeld-Rieger综合征 | Axenfeld 综合征 |
| tr | Axenfeld-Rieger sendromu | Rieger sendromu · Axenfeld sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180500 | E | validated | |
| OMIM | 601499 | BTNT | validated | |
| OMIM | 602482 | BTNT | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0019187 | E | validated | |
| MeSH | C535679 | E | validated | |
| UMLS | C3495488 | E | validated | |
| GARD | 5701 | E | validated | |
| MedDRA | 10059255 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:95495Disease associated with non-acquired combined pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1831De Hauwere syndrome moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PITX2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9005 | ENSG00000164093 | 601542 | 4q25 | paired like homeodomain 2 | 19513095[PMID] |
| PITX2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9005 | ENSG00000164093 | 601542 | 4q25 | paired like homeodomain 2 | 19513095[PMID] |
| FOXC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3800 | ENSG00000054598 | 601090 | 6p25.3 | forkhead box C1 | 19513095[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0008053 | Aplasia/Hypoplasia of the iris | |
| HP:0000627 | Posterior embryotoxon | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000501 | Glaucoma | |
| HP:0000365 | Hearing impairment | |
| HP:0011800 | Midface retrusion | |
| Occasional (29-5%) | ||
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0002025 | Anal stenosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001510 | Growth delay | |
| HP:0000316 | Hypertelorism | |
| HP:0000668 | Hypodontia | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000047 | Hypospadias | |
| HP:0000691 | Microdontia | |
| HP:0011220 | Prominent forehead | |
| HP:0001582 | Redundant skin | |
| HP:0000506 | Telecanthus | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/782
- This record as JSON: /data/d/782.json