CHOANAL ATRESIA AND LYMPHEDEMA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613611
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:0000453) Choanal atresia 76 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0001698) Pericardial effusion 20 / 7739
4
 (OMIM) Lymphedema, lower extremities 3 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Qazi et al. (1982) reported a consanguineous Yemenite family in which a brother and sister and their paternal aunt had posterior choanal atresia. The boy also had a high-arched palate, hypoplastic nipples, and mild pectus excavatum, and the ...
Molecular genetics OMIM In affected members of a family with choanal atresia and lymphedema reported by Qazi et al. (1982) and Har-El et al. (1991), Au et al. (2010) identified a homozygous mutation in the PTPN14 gene (603155.0001). The mutation was ...