MCID: CHN040
MIFTS: 19

Choanal Atresia and Lymphedema

Categories: Genetic diseases, Cardiovascular diseases, Smell/Taste diseases, Fetal diseases, Rare diseases, Immune diseases

Aliases & Classifications for Choanal Atresia and Lymphedema

MalaCards integrated aliases for Choanal Atresia and Lymphedema:

Name: Choanal Atresia and Lymphedema 57 75 37 29 13 6 40
Lymphedema-Posterior Choanal Atresia Syndrome 59
Catlph 57
Chatly 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated may 2012)
onset of edema in childhood


HPO:

32
choanal atresia and lymphedema:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613611
Orphanet 59 ORPHA99141
ICD10 via Orphanet 34 Q82.0
MedGen 42 C3150875
KEGG 37 H01017

Summaries for Choanal Atresia and Lymphedema

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

Related Diseases for Choanal Atresia and Lymphedema

Diseases related to Choanal Atresia and Lymphedema via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choanal atresia, posterior 10.0
2 lymphedema 10.0

Symptoms & Phenotypes for Choanal Atresia and Lymphedema

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
choanal atresia

Cardiovascular Heart:
pericardial effusion

Head And Neck Mouth:
high-arched palate

Muscle Soft Tissue:
lymphedema, lower extremities


Clinical features from OMIM:

613611

Human phenotypes related to Choanal Atresia and Lymphedema:

32
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 choanal atresia 32 HP:0000453
3 lymphedema 32 HP:0001004
4 pericardial effusion 32 HP:0001698

Drugs & Therapeutics for Choanal Atresia and Lymphedema

Search Clinical Trials , NIH Clinical Center for Choanal Atresia and Lymphedema

Genetic Tests for Choanal Atresia and Lymphedema

Genetic tests related to Choanal Atresia and Lymphedema:

# Genetic test Affiliating Genes
1 Choanal Atresia and Lymphedema 29 PTPN14

Anatomical Context for Choanal Atresia and Lymphedema

Publications for Choanal Atresia and Lymphedema

Articles related to Choanal Atresia and Lymphedema:

# Title Authors Year
1
Choanal atresia and lymphedema. ( 1872518 )
1991

Variations for Choanal Atresia and Lymphedema

ClinVar genetic disease variations for Choanal Atresia and Lymphedema:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN14 PTPN14, 2,016-BP DEL deletion Pathogenic

Expression for Choanal Atresia and Lymphedema

Search GEO for disease gene expression data for Choanal Atresia and Lymphedema.

Pathways for Choanal Atresia and Lymphedema

GO Terms for Choanal Atresia and Lymphedema

Sources for Choanal Atresia and Lymphedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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