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 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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Smell/Taste diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Hereditary lymphoedema

Orphanet: ⁵⁹

Rare circulatory system diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 613611

Orphanet ⁵⁹ ORPHA99141

ICD10 via Orphanet ³⁴ Q82.0

MedGen ⁴² C3150875

MeSH ⁴⁴ D002754 D008209

KEGG ³⁷ H01017

SNOMED-CT via HPO ⁶⁹ 258211005 27272007 204508009 more

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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

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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 271)

#	Related Disease	Score
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:

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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 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

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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 ²⁹	PTPN14

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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

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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 )		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	1418.84	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ 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	SNP ID	Assembly	Location
1	PTPN14	PTPN14, 2,016-BP DEL	deletion	Pathogenic

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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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³³ ICD10

³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

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⁴¹ MalaCards

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⁴⁴ MeSH

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⁴⁶ MGI

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⁴⁸ NCBI Bookshelf

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Choanal Atresia and Lymphedema:

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

MalaCards organs/tissues related to 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