ORPHA:91416
Isolated congenital alacrima
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital alacrima | |
| fr | Alacrymie congénitale isolée | |
| de | Alakrimie, isolierte kongenitale | |
| es | Alacrima congénita aislada | |
| it | Alacrimia congenita isolata | |
| nl | Geïsoleerde congenitale alacrimie | |
| pt | Alacrimia isolada congénita | |
| pl | Izolowany wrodzony brak łez | |
| cs | Izolovaná vrozená alakrimie | |
| uk | Ізольована вроджена алакрима | |
| zh | 孤立型先天性无泪症 | |
| tr | İzole Doğumsal alakrima |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 103420 | BTNT | validated | |
| OMIM | 601549 | BTNT | validated | |
| ICD-10 | Q10.6 | NTBT | attributed | validated |
| MONDO | 0019627 | E | validated | |
| UMLS | C4273963 | 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 (1):
- ORPHA:98604Congenital alacrima
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
10 annotations · validated 2019-03-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000522 | Alacrima | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000509 | Conjunctivitis | |
| HP:0200020 | Corneal erosion | |
| HP:0009743 | Distichiasis | |
| HP:0000491 | Keratitis | |
| HP:0007732 | Lacrimal gland hypoplasia | |
| HP:0000613 | Photophobia | |
| HP:0000508 | Ptosis | |
| Occasional (29-5%) | ||
| HP:0007820 | Lacrimal punctal atresia | |
| Excluded (0%) | ||
| HP:0002571 | Achalasia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 8740696[PMID]_1815166[PMID]_962658[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91416
- This record as JSON: /data/d/91416.json