CATLPH
MCID: CHN040
MIFTS: 36

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 74 37 29 13 6 40
Catlph 57 74
Lymphedema-Posterior Choanal Atresia Syndrome 59
Lymphedema 44

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of edema in infancy or childhood


HPO:

32
choanal atresia and lymphedema:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

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

Summaries for Choanal Atresia and Lymphedema

KEGG : 37
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 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). The drugs Tacrolimus and Polymyxin B have been mentioned in the context of this disorder. Affiliated tissues include breast, lymph node and endothelial, and related phenotypes are high palate and lymphedema

UniProtKB/Swiss-Prot : 74 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:

(show top 50) (show all 578)
# Related Disease Score Top Affiliating Genes
1 lymphedema-distichiasis syndrome 12.8
2 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 12.7
3 hereditary lymphedema ii 12.7
4 hypotrichosis-lymphedema-telangiectasia syndrome 12.7
5 hennekam lymphangiectasia-lymphedema syndrome 1 12.7
6 cholestasis-lymphedema syndrome 12.6
7 lymphedema, primary, with myelodysplasia 12.6
8 hennekam lymphangiectasia-lymphedema syndrome 2 12.6
9 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.6
10 hennekam lymphangiectasia-lymphedema syndrome 3 12.6
11 hereditary lymphedema i 12.6
12 hereditary lymphedema 12.6
13 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.5
14 primary lymphedema 12.5
15 lymphatic malformation 1 12.5
16 deafness-lymphedema-leukemia syndrome 12.5
17 hereditary lymphedema id 12.4
18 lymphatic malformation 5 12.4
19 hereditary lymphedema ic 12.3
20 hereditary lymphedema ia 12.3
21 hennekam syndrome 12.3
22 lymphedema, cardiac septal defects, and characteristic facies 12.3
23 congenital lymphedema 12.3
24 hereditary lymphedema ib 12.3
25 yellow nail syndrome 12.3
26 lymphedema-hypoparathyroidism syndrome 12.3
27 agenesis of the corpus callosum and congenital lymphedema 12.2
28 syndromic lymphedema 12.2
29 lymphatic malformation 3 12.2
30 lymphedema and cerebral arteriovenous anomaly 12.2
31 lymphatic malformation 4 12.1
32 obsolete: congenital primary lymphedema 12.0
33 obsolete: late-onset primary lymphedema 12.0
34 genetic primary lymphedema 12.0
35 primary lymphedema with associated anomalies 12.0
36 obsolete: lymphedema tarda 12.0
37 obsolete: lymphedema praecox 12.0
38 obsolete: lymphedema-cleft palate syndrome 12.0
39 obsolete: mandibulofacial dysostosis-lymphedema syndrome 12.0
40 microcephaly-cutis verticis gyrata-lymphedema syndrome 12.0
41 lymphangiosarcoma 12.0
42 lymphatic malformation 6 12.0
43 lymphatic malformation 2 11.9
44 dahlberg borer newcomer syndrome 11.8
45 takenouchi-kosaki syndrome 11.7
46 filarial elephantiasis 11.6
47 noonan syndrome 1 11.5
48 turner syndrome 11.5
49 irons bhan syndrome 11.5
50 elephantiasis 11.5

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

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

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

Drugs & Therapeutics for Choanal Atresia and Lymphedema

Drugs for Choanal Atresia and Lymphedema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
2
Polymyxin B Approved, Vet_approved Phase 2, Phase 3 1404-26-8
3
Bacitracin Approved, Vet_approved Phase 2, Phase 3 1405-87-4 439542 10909430
4
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
5 Hemostatics Phase 3
6 Fibrin Tissue Adhesive Phase 3
7 Coagulants Phase 3
8 Gramicidin Phase 2, Phase 3
9 Anti-Infective Agents, Local Phase 2, Phase 3
10 Polymyxins Phase 2, Phase 3
11 Calcineurin Inhibitors Phase 2, Phase 3
12 Antiparasitic Agents Phase 3
13 Antiprotozoal Agents Phase 3
14 Antimalarials Phase 3
15 Omega 3 Fatty Acid Phase 3
16
Selenium Approved, Investigational, Vet_approved Phase 2 7782-49-2
17
Selenious acid Approved, Investigational Phase 2 7783-00-8
18
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
19
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
20
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
21
Pentoxifylline Approved, Investigational Phase 2 6493-05-6 4740
22
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
23
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
24
Propranolol Approved, Investigational Phase 2 525-66-6 4946
25
Valganciclovir Approved, Investigational Phase 2 175865-60-8 64147
26
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
27
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
28
Methylene blue Approved, Investigational Phase 2 61-73-4
29
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
30
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
31 Kava Approved, Investigational, Nutraceutical Phase 1, Phase 2 9000-38-8
32
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
33
Ubenimex Experimental, Investigational Phase 2 58970-76-6
34
Horse chestnut Experimental Phase 2
35 Tocotrienol Investigational Phase 2 6829-55-6
36 Pycnogenols Phase 2
37 Adjuvants, Immunologic Phase 2
38 Antioxidants Phase 2
39 Protective Agents Phase 2
40 Platelet Aggregation Inhibitors Phase 2
41 HIV Protease Inhibitors Phase 2
42
protease inhibitors Phase 2
43 Anti-HIV Agents Phase 2
44 Mitogens Phase 2
45 Endothelial Growth Factors Phase 2
46 Antineoplastic Agents, Immunological Phase 2
47 Sodium Selenite Phase 2
48 Tubulin Modulators Phase 2
49 Antimitotic Agents Phase 2
50 Vitamins Phase 2

Interventional clinical trials:

(show top 50) (show all 369)
# Name Status NCT ID Phase Drugs
1 Low Level Laser Treatment and Breast Cancer Related Lymphedema Completed NCT00852930 Phase 4
2 Placebo-controlled, Case-controlled, Open Label Therapeutic Trial for Unilateral or Bilateral Lymphedema of Arm or Leg. Completed NCT02257970 Phase 4 Ketoprofen;Placebo
3 Prospective, Randomized Controlled Trial Comparing the Effect of CircAid(R) Juxta-Fit(tm) Versus Trico Bandages in the Treatment of Leg Lymphedema Completed NCT01068431 Phase 4
4 A Randomized Control Trial for Lymphocele and Lymphorrhea Control Following Inguinal and Axillary Radical Lymph Node Dissection Completed NCT02476357 Phase 4
5 Prospective, Randomized Controlled Trial Comparing the Effect of a Non-elastic Compression Device Juxta Reduction Kit (Medi ®)" Versus Elastic Class 1 Stockings (BSN Medical® in Patients Undergoing Total Knee Arthroplasty Completed NCT02375945 Phase 4
6 A Comparison of Dermal Autograft to Commercially Available Dermal Allograft in Breast Reconstruction Completed NCT01561287 Phase 4
7 Individualisation du Drainage Lymphatique Des Membres inférieurs Lors du Curage Pelvien Pour Cancer gynécologique Active, not recruiting NCT01946672 Phase 4
8 Standardization of Indocyanine Green Lymphography Protocol With Exercise for Lymphedema Assessment Enrolling by invitation NCT03584633 Phase 4 Indocyanine Green
9 Use of Pulsed Electromagnetic Fields in Reducing Arm and Shoulder Complaints in Breast Cancer Patients After Lymph Node Dissection Terminated NCT01255631 Phase 4
10 A Randomized Trial of the Flexitouch Compression System as an Adjunctive Treatment for Venous Stasis Ulcer Terminated NCT00534937 Phase 4
11 Randomized Trial of Pelvic and Lower Extremity Exercise in Patients Who Underwent Pelvic Lymphadenectomy With Lower Extremity Edema-related Symptoms Unknown status NCT01849224 Phase 3
12 A Randomized Trial to Determine the Impact of Lymphedema Therapy on Quality of Life and Disease Severity in Patients With Post-Thrombotic Syndrome Unknown status NCT00633971 Phase 3
13 Prospective Randomized Study Comparing Mastectomy Outcomes With Versus Without the Application of Autologous Blood Products to the Surgical Site Unknown status NCT00802477 Phase 3
14 A Randomized Study to Prevent Lymphedema in Women Treated for Breast Cancer Completed NCT00376597 Phase 3
15 Lymphedema Treatment of Post-surgical Upper Limb of Breast Cancer Through Muscle Strengthening Associated With Complex Physical Therapy Completed NCT02574780 Phase 2, Phase 3
16 DELTA - A Randomized Trial of Decongestive Lymphatic Therapy for Lymphedema in Women With Breast Cancer Completed NCT00201890 Phase 3
17 Individualisation of the Lymphatic Arm Drainage During Axillary Dissection for Breast Carcinomas. Completed NCT01146158 Phase 3
18 Does Scar Tissue Massage Improve Postoperative Pain and Function in Women With Breast Cancer? A Randomized Controlled Study. Completed NCT00175344 Phase 3
19 Efficacy of a Fibrin Sealant (Tissucol Duo®) for the Prevention of Lymphocele After Laparoscopic Pelvic Lymphadenectomy Due to Gynaecological Cancer: a Randomised Controlled Trial Completed NCT03914963 Phase 3
20 A Collagen-Fibrin Patch (Tachosil®) for the Prevention of Symptomatic Lymphoceles After Pelvic Lymphadenectomy in Women With Gynecologic Malignancies: a Randomized Clinical Trial Completed NCT01470677 Phase 3 Tachosil fibrin patch
21 Treatment of Breast Cancer-related Lymphedema With Stem Cells and Fat Grafting Recruiting NCT03776721 Phase 3
22 ARM: Axillary Reverse Mapping - A Prospective Trial to Study Rates of Lymphedema and Regional Recurrence After Sentinel Lymph Node Biopsy and Sentinel Lymph Node Biopsy Followed by Axillary Lymph Node Dissection With and Without Axillary Reverse Mapping Recruiting NCT03927027 Phase 3 Isosulfan Blue
23 Malar Bags After Lower Lid Blepharoplasty and Facelift: A Randomized Controlled Trial of the Effects of Tacrolimus Recruiting NCT03715387 Phase 2, Phase 3 Tacrolimus Topical 0.1% Topical Ointment;Polysporin Ointment
24 RT CHARM: Phase III Randomized Trial of Hypofractionated Post Mastectomy Radiation With Breast Reconstruction Recruiting NCT03414970 Phase 3
25 Inguinal or Ilio-inguinal Lymphadenectomy for Patients With Metastatic Melanoma to Groin Lymph Nodes and no Evidence of Pelvic Disease on PET/CT Scan - A Randomised Phase III Trial (EAGLE FM) Recruiting NCT02166788 Phase 3
26 A Multi-center, Double-blind, Randomized, 24-month Study, to Compare the Efficacy of Doxycycline Once Daily for 6 Weeks Versus Placebo in Improving Filarial Lymphedema Independent of Active Filarial Infection Active, not recruiting NCT02929134 Phase 3 Doxycycline;Placebo
27 A Multi-center, Double-blind, Randomized, 24-month Study, to Compare the Efficacy of Doxycycline Once Daily for 6 Weeks Versus Placebo in Improving Filarial Lymphedema Independent of Active Filarial Infection Active, not recruiting NCT02929121 Phase 3 Doxycycline;Placebo
28 A Multi-center, Double-blind, Randomized, 24-month Study, to Compare the Efficacy of Doxycycline Once Daily for 6 Weeks Versus Placebo in Improving Filarial Lymphedema Independent of Active Filarial Infection Active, not recruiting NCT02927496 Phase 3 Doxycycline;Placebo
29 Evaluating the Use of Enhanced Recovery Preoperative Immunonutrition and Carbohydrate Loading Strategies in Immediate Autologous and Alloplastic Breast Reconstruction Not yet recruiting NCT03764943 Phase 3
30 A Prospective Randomized Single Blind Phase III Trial Comparing Flexitouch Home Maintenance Therapy to Standard Home Maintenance Therapy for Lower Extremity Lymphedema Resulting From Treatment of Gynecologic Malignancy Terminated NCT00577317 Phase 3
31 Fat Grafting Used for the Treatment of Breast Cancer Related Lymphedema in China Unknown status NCT02981485 Phase 2
32 A Limited Access Phase II Trial Utilizing Bioimpedance to Measure Lower Extremity Lymphedema Associated With the Surgical Management of a Vulvar Cancer Unknown status NCT01406769 Phase 2
33 Treatment of Breast Cancer Related Lymphedema With Cell-assisted Lipotransfer Unknown status NCT02592213 Phase 2
34 Randomized Phase II Trial Of Hyperbaric Oxygen Therapy In Patients With Chronic Arm Lymphoedema After Radiotherapy For Cancer Unknown status NCT00077090 Phase 2 hyperbaric oxygen
35 Therapeutical Assessment of Compression Armsleeves for Lymphatic Indications (Therapeutische Bewertung Von Armkompressionsstrümpfen für Lymphatische Indikationen BF09-PH-01) Unknown status NCT01318785 Phase 2
36 Axillary Reverse Mapping in Breast Cancer Unknown status NCT01038908 Phase 2
37 Efficacy Study of a Peristaltic Pulse Pneumatic Device in the Treatment of Claudication Unknown status NCT01007604 Phase 2
38 Lymphadenectomy After Neo-Adjuvant Chemotherapy in Ovarian Neoplasm Unknown status NCT01724944 Phase 1, Phase 2
39 Treatment of Arm Lymphedema in Breast Cancer Survivors: A Double-Blind, Randomized Study of Pycnogenol vs. Placebo Completed NCT00214032 Phase 2 Pycnogenol;Placebo
40 Ubenimex in Adult Patients With Lymphedema of The Lower Limb: a Phase 2, RAndomized, Double-blind, Placebo-controlled Study of Efficacy, Safety, and Pharmacokinetics (ULTRA) Completed NCT02700529 Phase 2 ubenimex
41 A Single-blind, Randomized Trial of Horse Chestnut Seed Extract for the Treatment of Lymphedema of the Arm in Breast Cancer Survivors Completed NCT00213928 Phase 2 Horse Chestnut Seed Extract
42 Pycnogenol for the Treatment of Lymphedema of the Arm in Breast Cancer Survivors Completed NCT00064857 Phase 2 Pycnogenol
43 Acupuncture for the Treatment of Chronic Lymphedema: A Feasibility Study Completed NCT01003951 Phase 2
44 A Phase II Study of VEGF Inhibition in Patients With Unilateral Upper Extremity Lymphedema Following Treatment for Cancer Completed NCT00827372 Phase 2 Pazopanib
45 A Randomized Phase II Placebo-controlled Double Blind Study of Using Selenium in the Treatment of Secondary Lymphedema in Breast Cancer Patients Completed NCT00188604 Phase 2 sodium selenite
46 The Effect of Combined Decongestive Therapy and Pneumatic Compression Pump on Body Image in Patients With Lymphedema Secondary to Breast Cancer Treatment Completed NCT02650297 Phase 1, Phase 2
47 Acupuncture for Chronic Lymphedema: A Randomized Wait-list Controlled Trial Completed NCT01706081 Phase 2
48 Assessment of Lymphatic Structure and Function Pre- and Post- Treatment and During Recovery in Head and Neck Cancer Patients Using NIR Fluorescence Lymphatic Imaging Completed NCT02946021 Phase 1, Phase 2 NIRFLI with ICG
49 Massage Therapy for Breast Cancer-Related Lymphedema Completed NCT00058851 Phase 2
50 Postoperative Lymphedema Treatment in Upper Extremities Following Axillary Lymphadenectomy by Transplanting Autologous Endothelial Progenitor Cells (EPC) Completed NCT01112189 Phase 1, Phase 2

Search 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
Breast, Lymph Node, Endothelial, Testes, Skin, Lung

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. 8 71
20826270 2010
2
Choanal atresia and lymphedema. 38 8
1872518 1991
3
Inheritance of posterior choanal atresia. 8
7158640 1982

Variations for Choanal Atresia and Lymphedema

ClinVar genetic disease variations for Choanal Atresia and Lymphedema:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PTPN14 PTPN14, 2,016-BP DEL deletion Pathogenic
2 PTPN14 NM_005401.5(PTPN14): c.401_402insTT (p.Leu135fs) insertion Pathogenic 1:214588012-214588013 1:214414669-214414670

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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