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CATLPH
MCID: CHN040
MIFTS: 28

Choanal Atresia and Lymphedema (CATLPH)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Choanal Atresia and Lymphedema

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MalaCards integrated aliases for Choanal Atresia and Lymphedema:

Name: Choanal Atresia and Lymphedema 58 76 38 30 13 6 41
Catlph 58 76
Lymphedema-Posterior Choanal Atresia Syndrome 60
Lymphedema 45

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of edema in infancy or childhood


HPO:

33
choanal atresia and lymphedema:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Smell/Taste diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare circulatory system diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 58 613611
KEGG 38 H01017
ICD10 via Orphanet 35 Q82.0
Orphanet 60 ORPHA99141
MedGen 43 C3150875
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Summaries for Choanal Atresia and Lymphedema

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UniProtKB/Swiss-Prot : 76 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 catlph, is related to lymphedema-distichiasis syndrome and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation. An important gene associated with Choanal Atresia and Lymphedema is PTPN14 (Protein Tyrosine Phosphatase Non-Receptor Type 14). Affiliated tissues include breast, heart and skin, and related phenotypes are high palate and lymphedema

Description from OMIM: 613611
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Related Diseases for Choanal Atresia and Lymphedema

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

(show top 50) (show all 329)
# Related Disease Score Top Affiliating Genes
1 lymphedema-distichiasis syndrome 12.7
2 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.6
3 hereditary lymphedema ii 12.6
4 hypotrichosis-lymphedema-telangiectasia syndrome 12.5
5 hennekam lymphangiectasia-lymphedema syndrome 1 12.5
6 cholestasis-lymphedema syndrome 12.5
7 hereditary lymphedema i 12.5
8 hennekam lymphangiectasia-lymphedema syndrome 2 12.5
9 hennekam lymphangiectasia-lymphedema syndrome 3 12.4
10 lymphedema, primary, with myelodysplasia 12.4
11 hereditary lymphedema 12.4
12 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.4
13 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.4
14 deafness-lymphedema-leukemia syndrome 12.4
15 lymphatic malformation 1 12.4
16 hereditary lymphedema ib 12.2
17 lymphedema, cardiac septal defects, and characteristic facies 12.2
18 hereditary lymphedema ic 12.2
19 hereditary lymphedema id 12.2
20 hereditary lymphedema ia 12.2
21 congenital lymphedema 12.2
22 yellow nail syndrome 12.2
23 hennekam syndrome 12.2
24 agenesis of the corpus callosum and congenital lymphedema 12.1
25 lymphatic malformation 3 12.1
26 lymphedema and cerebral arteriovenous anomaly 12.1
27 lymphatic malformation 4 12.0
28 lymphedema-hypoparathyroidism syndrome 12.0
29 lymphatic malformation 5 12.0
30 lymphatic malformation 6 12.0
31 lymphangiosarcoma 11.9
32 dahlberg borer newcomer syndrome 11.7
33 lymphatic malformation 2 11.6
34 takenouchi-kosaki syndrome 11.6
35 filarial elephantiasis 11.4
36 irons bhan syndrome 11.4
37 kaposi sarcoma 11.3
38 podoconiosis 11.3
39 turner syndrome 11.3
40 oculodentodigital dysplasia 11.3
41 immunodeficiency 21 11.3
42 bier spots 11.3
43 breast cancer 11.1
44 microcephaly and chorioretinopathy, autosomal recessive, 1 11.0
45 immunodeficiency 33 10.9
46 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.9
47 phelan-mcdermid syndrome 10.9
48 kanzaki disease 10.9
49 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 10.9
50 verruciform xanthoma of skin 10.9

Graphical network of the top 20 diseases related to Choanal Atresia and Lymphedema:



Diseases related to Choanal Atresia and Lymphedema
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Symptoms & Phenotypes for Choanal Atresia and Lymphedema

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Human phenotypes related to Choanal Atresia and Lymphedema:

33
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 lymphedema 33 HP:0001004
3 choanal atresia 33 HP:0000453
4 pericardial effusion 33 HP:0001698

Symptoms via clinical synopsis from OMIM:

58
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
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Drugs & Therapeutics for Choanal Atresia and Lymphedema

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

Cochrane evidence based reviews: lymphedema

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Genetic Tests for Choanal Atresia and Lymphedema

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Genetic tests related to Choanal Atresia and Lymphedema:

# Genetic test Affiliating Genes
1 Choanal Atresia and Lymphedema 30 PTPN14
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Anatomical Context for Choanal Atresia and Lymphedema

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MalaCards organs/tissues related to Choanal Atresia and Lymphedema:

42
Breast, Heart, Skin, Prostate, Myeloid, Lung, Lymph Node
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Publications for Choanal Atresia and Lymphedema

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Articles related to Choanal Atresia and Lymphedema:

# Title Authors Year
1
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. ( 20826270 )
2010
2
Choanal atresia and lymphedema. ( 1872518 )
1991
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Variations for Choanal Atresia and Lymphedema

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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
2 PTPN14 NM_005401.5(PTPN14): c.401_402insTT (p.Leu135Tyrfs) insertion Pathogenic GRCh38 Chromosome 1, 214414669: 214414670
3 PTPN14 NM_005401.5(PTPN14): c.401_402insTT (p.Leu135Tyrfs) insertion Pathogenic GRCh37 Chromosome 1, 214588012: 214588013
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Expression for Choanal Atresia and Lymphedema

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

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GO Terms for Choanal Atresia and Lymphedema

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Sources for Choanal Atresia and Lymphedema

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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