ORPHA:86815
Aplasia of lacrimal and salivary glands
Synonyms: ALSG · Congenital absence of lacrimal puncta and salivary glands
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aplasia of lacrimal and salivary glands | ALSG · Congenital absence of lacrimal puncta and salivary glands |
| fr | Aplasie des glandes salivaires et lacrymales | ALSG · Absence congénitale des glandes salivaires et lacrymales |
| de | Tränen- und Speicheldrüsenaplasie | ALSG-Syndrom · Aplasie der Tränen- und Speicheldrüsen |
| es | Aplasia de glándulas lagrimales y salivares | |
| it | Aplasia delle ghiandole lacrimali e salivari | ALSG · Assenza congenita dei punti lacrimali e delle ghiandole salivari |
| nl | Aplasie van traan- en speekselklieren | ALSG · Congenitale afwezigheid van lacrimale puncta en speekselklieren |
| pt | Aplasia das glândulas salivares e lacrimais | |
| pl | Aplazja gruczołów łzowych i ślinowych | ALSG · Wrodzony brak punktów łzowych i gruczołów ślinowych |
| cs | Aplázie slzných a slinných žláz | ALSG · Vrozená absence slinných žláz a slzného bodu |
| uk | Аплазія слізних і слинних залоз | ALSG · Вроджена відсутність слізного отвору та слинних залоз |
| zh | 泪腺唾液腺发育不全 | 先天性泪腺唾液腺缺失 |
| tr | Gözyaşı ve tükürük bezlerinin aplazisi | ALSG · Lakrimal punkta ve tükrük bezlerinin doğumsal yokluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180920 | E | validated | |
| ICD-10 | Q10.4 | BTNT | attributed | validated |
| ICD-10 | Q38.4 | BTNT | attributed | validated |
| ICD-11 | LA14.10 | E | specific | validated |
| MONDO | 0008397 | E | validated | |
| MeSH | C562407 | E | validated | |
| UMLS | C0158667 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF10 | Disease-causing germline mutation(s) in | Assessed | HGNC:3666 | ENSG00000070193 | 602115 | 5p12 | fibroblast growth factor 10 | 17213838[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86815
- This record as JSON: /data/d/86815.json