|
MCID: CHN040
MIFTS: 19
|
Choanal Atresia and Lymphedema
Categories:
Genetic diseases, Cardiovascular diseases, Smell/Taste diseases, Fetal diseases, Rare diseases, Immune diseases
|
|
|
|
MalaCards integrated aliases for Choanal Atresia and Lymphedema:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
one family has been reported (last curated may 2012) onset of edema in childhood HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Cardiovascular diseases Smell/Taste diseases Immune diseases
ICD10:
34
Orphanet: 59
Rare circulatory system diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis
|
|
UniProtKB/Swiss-Prot
:
75
Choanal atresia and lymphedema: A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum.
MalaCards based summary : Choanal Atresia and Lymphedema, also known as lymphedema-posterior choanal atresia syndrome, is related to choanal atresia, posterior and lymphedema. An important gene associated with Choanal Atresia and Lymphedema is PTPN14 (Protein Tyrosine Phosphatase, Non-Receptor Type 14). Related phenotypes are high palate and choanal atresia
Description from OMIM:
613611
|
Diseases related to Choanal Atresia and Lymphedema via text searches within MalaCards or GeneCards Suite gene sharing:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613611Human phenotypes related to Choanal Atresia and Lymphedema:32
|
|
|
Articles related to Choanal Atresia and Lymphedema:
|
Genes related to Choanal Atresia and Lymphedema (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Choanal Atresia and Lymphedema:6
|
|
Search
GEO
for disease gene expression data for Choanal Atresia and Lymphedema.
|
|
|
|