Choanal Atresia and Lymphedema disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Choanal Atresia and Lymphedema

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

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Hereditary lymphoedema

Orphanet: ⁶⁰

Rare circulatory system diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 613611

KEGG ³⁸ H01017

MeSH ⁴⁵ D002754 D008209

ICD10 via Orphanet ³⁵ Q82.0

Orphanet ⁶⁰ ORPHA99141

MedGen ⁴³ C3150875

SNOMED-CT via HPO ⁷⁰ 204508009 234097001 258211005 more

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Summaries for Choanal Atresia and Lymphedema

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). Related phenotypes are high palate and lymphedema

Description from OMIM: 613611

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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 313)

#	Related Disease	Score
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	lymphedema, primary, with myelodysplasia	12.5
9	hennekam lymphangiectasia-lymphedema syndrome 3	12.4
10	hereditary lymphedema	12.4
11	hennekam lymphangiectasia-lymphedema syndrome 2	12.4
12	ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema	12.4
13	deafness-lymphedema-leukemia syndrome	12.3
14	lymphatic malformation 1	12.3
15	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	12.3
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	12.1
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	lymphatic malformation 5	12.0
28	lymphatic malformation 6	11.9
29	lymphangiosarcoma	11.9
30	lymphatic malformation 3	11.9
31	lymphatic malformation 4	11.8
32	dahlberg borer newcomer syndrome	11.7
33	lymphatic malformation 2	11.6
34	takenouchi-kosaki syndrome	11.6
35	filarial elephantiasis	11.5
36	irons bhan syndrome	11.4
37	elephantiasis	11.3
38	kaposi sarcoma	11.3
39	podoconiosis	11.3
40	turner syndrome	11.3
41	oculodentodigital dysplasia	11.2
42	immunodeficiency 21	11.2
43	bier spots	11.2
44	breast cancer	11.1
45	microcephaly and chorioretinopathy, autosomal recessive, 1	10.9
46	immunodeficiency 33	10.9
47	cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	10.9
48	phelan-mcdermid syndrome	10.9
49	kanzaki disease	10.9
50	poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	10.9

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

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Symptoms & Phenotypes for Choanal Atresia and Lymphedema

Human phenotypes related to Choanal Atresia and Lymphedema:

³³

#	Description	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

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

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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Publications for Choanal Atresia and Lymphedema

Articles related to Choanal Atresia and Lymphedema:

#	Title	Authors	Year
1	Choanal atresia and lymphedema. ( 1872518 )	Har-El G....Weiss M.H.	1991

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Genes for Choanal Atresia and Lymphedema

Genes related to Choanal Atresia and Lymphedema (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PTPN14	Protein Tyrosine Phosphatase Non-Receptor Type 14	Protein Coding	1368.84	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders (show sections)	20826270

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Variations for Choanal Atresia and Lymphedema

ClinVar genetic disease variations for Choanal Atresia and Lymphedema:

⁶

#	Gene	Variation	Type	Significance	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

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

¹ BioSystems

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⁹ Cosmic

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²¹ GeneAnalytics

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

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⁴⁵ MeSH

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⁴⁷ MGI

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⁴⁹ NCBI Bookshelf

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⁵⁴ NIH Rare Diseases

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⁵⁶ Novoseek

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⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁶³ PubMed

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⁶⁶ R&D Systems

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Choanal Atresia and Lymphedema (CATLPH)

Aliases & Classifications for Choanal Atresia and Lymphedema

MalaCards integrated aliases for Choanal Atresia and Lymphedema:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Choanal Atresia and Lymphedema

Related Diseases for Choanal Atresia and Lymphedema

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

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

Symptoms & Phenotypes for Choanal Atresia and Lymphedema

Human phenotypes related to Choanal Atresia and Lymphedema:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Anatomical Context for Choanal Atresia and Lymphedema

Publications for Choanal Atresia and Lymphedema

Articles related to Choanal Atresia and Lymphedema:

Genes for Choanal Atresia and Lymphedema

Genes related to Choanal Atresia and Lymphedema (1 elite genes):

Variations for Choanal Atresia and Lymphedema

ClinVar genetic disease variations for Choanal Atresia and Lymphedema:

Expression for Choanal Atresia and Lymphedema

Pathways for Choanal Atresia and Lymphedema

GO Terms for Choanal Atresia and Lymphedema

Sources for Choanal Atresia and Lymphedema