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CATLPH
MCID: CHN040
MIFTS: 20
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Choanal Atresia and Lymphedema (CATLPH)
Categories:
Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases, Smell/Taste diseases
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MalaCards integrated aliases for Choanal Atresia and Lymphedema:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset of edema in infancy or childhood HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Cardiovascular diseases Smell/Taste diseases Skin diseases Immune diseases
ICD10:
33
Orphanet: 58
Rare circulatory system diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis |
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KEGG :
36
Choanal atresia and lymphoedema is a rare congenital malformation caused by loss-of-function mutation in PTPN14 encoding a nonreceptor tyrosine phosphatase. PTPN14 has been shown to interact with the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase that is essential for lymphangiogenesis. The mechanism responsible for the development of chanal atresia is not clear but believed to be failure of the breakdown of the bucconasal membrane during embryogenesis.
MalaCards based summary : Choanal Atresia and Lymphedema, also known as catlph, is related to choanal atresia, posterior. An important gene associated with Choanal Atresia and Lymphedema is PTPN14 (Protein Tyrosine Phosphatase Non-Receptor Type 14). Affiliated tissues include endothelial, and related phenotypes are high palate and lymphedema UniProtKB/Swiss-Prot : 73 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.
More information from OMIM:
613611
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Diseases related to Choanal Atresia and Lymphedema via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Choanal Atresia and Lymphedema:31
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MalaCards organs/tissues related to Choanal Atresia and Lymphedema:40
Endothelial
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Articles related to Choanal Atresia and Lymphedema:
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Genes related to Choanal Atresia and Lymphedema (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Choanal Atresia and Lymphedema:6
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Search
GEO
for disease gene expression data for Choanal Atresia and Lymphedema.
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