ALACRIMA, CONGENITAL

General Information (adopted from Orphanet):

Synonyms, Signs: ALACRIMIA CONGENITA
Number of Symptoms 5
OrphanetNr:
OMIM Id: 103420
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000584) Punctate corneal epithelial erosions 3 / 7739
2
(HPO:0000613) Photophobia 158 / 7739
3
(HPO:0007820) Atretic lacrimal punctum 2 / 7739
4
(HPO:0007732) Lacrimal gland hypoplasia 4 / 7739
5
(OMIM) Alacrima - hypolacrimation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mondino and Brown (1976) described a family of Irish descent in which 5 persons in 4 generations showed markedly deficient lacrimation from infancy and punctate corneal epithelial erosions. Male-to-male transmission was observed. Hypoplasia of the lacrimal glands was ...