ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 601549
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000613) Photophobia 158 / 7739
2
 (HPO:0000584) Punctate corneal epithelial erosions 3 / 7739
3
 (HPO:0000522) Alacrima 14 / 7739
4
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
 (OMIM) Alacrima - hypolacrimation, severe 1 / 7739
6
 (OMIM) Normal lacrimal puncta 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hegab and Al-Mutawa (1996) reported a large Jordanian family in which 2 sisters married to cousins had a total of 3 children (1 male and 2 females) with congenital alacrima (but no achalasia). The lacrimal glands were present, ...