CATLPH
MCID: CHN040
MIFTS: 22

Choanal Atresia and Lymphedema (CATLPH)

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

Aliases & Classifications for Choanal Atresia and Lymphedema

MalaCards integrated aliases for Choanal Atresia and Lymphedema:

Name: Choanal Atresia and Lymphedema 56 73 36 29 13 6 39
Catlph 56 73
Lymphedema-Posterior Choanal Atresia Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of edema in infancy or childhood


HPO:

31
choanal atresia and lymphedema:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 613611
KEGG 36 H01017
ICD10 via Orphanet 33 Q82.0
Orphanet 58 ORPHA99141
MedGen 41 C3150875

Summaries for Choanal Atresia and Lymphedema

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 and hereditary lymphedema i. An important gene associated with Choanal Atresia and Lymphedema is PTPN14 (Protein Tyrosine Phosphatase Non-Receptor Type 14). Affiliated tissues include endothelial and skin, and related phenotypes are lymphedema and high palate

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

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 10.2
2 hereditary lymphedema i 10.2

Symptoms & Phenotypes for Choanal Atresia and Lymphedema

Human phenotypes related to Choanal Atresia and Lymphedema:

31
# Description HPO Frequency HPO Source Accession
1 lymphedema 31 HP:0001004
2 high palate 31 HP:0000218
3 choanal atresia 31 HP:0000453
4 pericardial effusion 31 HP:0001698

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
choanal atresia

Head And Neck Mouth:
high-arched palate

Cardiovascular Heart:
pericardial effusion

Muscle Soft Tissue:
lymphedema, lower extremities

Clinical features from OMIM:

613611

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

MalaCards organs/tissues related to Choanal Atresia and Lymphedema:

40
Endothelial, Skin

Publications for Choanal Atresia and Lymphedema

Articles related to Choanal Atresia and Lymphedema:

# Title Authors PMID Year
1
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. 6 56
20826270 2010
2
Choanal atresia and lymphedema. 56 61
1872518 1991
3
Inheritance of posterior choanal atresia. 56
7158640 1982

Variations for Choanal Atresia and Lymphedema

ClinVar genetic disease variations for Choanal Atresia and Lymphedema:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPN14 NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs)insertion Pathogenic 599260 rs1558092113 1:214588012-214588013 1:214414669-214414670
2 PTPN14 PTPN14, 2,016-BP DELdeletion Pathogenic 6620

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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