CATLPH
MCID: CHN040
MIFTS: 28

Choanal Atresia and Lymphedema (CATLPH)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste 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
Catlph 57 75
Lymphedema-Posterior Choanal Atresia Syndrome 59
Lymphedema 44

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 catlph, is related to lymphedema-distichiasis syndrome and lymphedema, hereditary, ia. An important gene associated with Choanal Atresia and Lymphedema is PTPN14 (Protein Tyrosine Phosphatase, Non-Receptor Type 14). Affiliated tissues include lung, skin and heart, and related phenotypes are high palate and lymphedema

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:

(show top 50) (show all 271)
# Related Disease Score Top Affiliating Genes
1 lymphedema-distichiasis syndrome 12.7
2 lymphedema, hereditary, ia 12.6
3 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.6
4 lymphedema, hereditary, ii 12.6
5 hypotrichosis-lymphedema-telangiectasia syndrome 12.5
6 hennekam lymphangiectasia-lymphedema syndrome 1 12.5
7 hereditary lymphedema i 12.5
8 cholestasis-lymphedema syndrome 12.5
9 lymphedema, primary, with myelodysplasia 12.4
10 hereditary lymphedema 12.4
11 lymphedema, hereditary, ic 12.4
12 lymphedema, hereditary, iii 12.4
13 lymphedema, hereditary, id 12.4
14 hennekam lymphangiectasia-lymphedema syndrome 2 12.3
15 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.3
16 deafness-lymphedema-leukemia syndrome 12.3
17 hennekam lymphangiectasia-lymphedema syndrome 3 12.3
18 lymphedema, hereditary, ib 12.3
19 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.2
20 lymphedema, cardiac septal defects, and characteristic facies 12.2
21 congenital lymphedema 12.1
22 yellow nail syndrome 12.1
23 hennekam syndrome 12.1
24 agenesis of the corpus callosum and congenital lymphedema 12.1
25 lymphedema and cerebral arteriovenous anomaly 12.0
26 lymphedema-hypoparathyroidism syndrome 12.0
27 lymphedema, congenital recessive 11.9
28 lymphangiosarcoma 11.9
29 dahlberg borer newcomer syndrome 11.7
30 takenouchi-kosaki syndrome 11.6
31 filarial elephantiasis 11.5
32 elephantiasis 11.3
33 kaposi sarcoma 11.3
34 podoconiosis 11.2
35 turner syndrome 11.2
36 oculodentodigital dysplasia 11.2
37 immunodeficiency 21 11.2
38 bier spots 11.2
39 irons bhan syndrome 11.1
40 microcephaly and chorioretinopathy, autosomal recessive, 1 10.9
41 immunodeficiency 33 10.9
42 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 10.9
43 phelan-mcdermid syndrome 10.9
44 kanzaki disease 10.9
45 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 10.9
46 verruciform xanthoma of skin 10.9
47 lymphatic system disease 10.9
48 angiosarcoma of the scalp 10.9
49 breast cancer 10.9
50 distichiasis 10.5

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



Diseases related to Choanal Atresia and Lymphedema

Symptoms & Phenotypes for Choanal Atresia and Lymphedema

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Choanal Atresia and Lymphedema:

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

Drugs & Therapeutics for Choanal Atresia and Lymphedema

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

Cochrane evidence based reviews: 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:

41
Lung, Skin, Heart, Lymph Node, Breast, B Cells, Myeloid

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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