Ciliary Dyskinesia, Primary, 41 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Ciliary Dyskinesia, Primary, 41

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 41:

Name: Ciliary Dyskinesia, Primary, 41 ⁵⁶ ⁷³ ²⁹ ⁶

Cild41 ⁵⁶ ¹² ⁷³

Primary Ciliary Dyskinesia 41 ¹²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
one patient with confirmed biallelic mutations affecting only the gas2l2 gene has been reported (last curated may 2019)

HPO:

³¹

ciliary dyskinesia, primary, 41:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases Respiratory diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111858

OMIM ⁵⁶ 618449

OMIM Phenotypic Series ⁵⁶ PS244400

MeSH ⁴³ D002925

MedGen ⁴¹ C5193103 CN258815

SNOMED-CT via HPO ⁶⁸ 12295008 15296000 195788001 more

UMLS ⁷¹ CN258815

Sources

Summaries for Ciliary Dyskinesia, Primary, 41

UniProtKB/Swiss-Prot : ⁷³ Ciliary dyskinesia, primary, 41: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive.

MalaCards based summary : Ciliary Dyskinesia, Primary, 41, is also known as cild41. An important gene associated with Ciliary Dyskinesia, Primary, 41 is GAS2L2 (Growth Arrest Specific 2 Like 2). Related phenotypes are recurrent otitis media and infertility

Disease Ontology : ¹² A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has material basis in homozygous or compound heterozygous mutation in GAS2L2 on chromosome 17q12.

OMIM : ⁵⁶ Ciliary dyskinesia-41 (CILD41) is an autosomal recessive disorder characterized by chronic sinusitis, otitis media, and bronchiectasis (Bustamante-Marin et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (618449)

Sources

Related Diseases for Ciliary Dyskinesia, Primary, 41

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1	Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3	Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5	Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7	Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9	Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11	Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13	Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15	Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17	Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19	Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21	Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23	Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25	Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27	Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29	Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32	Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34	Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37	Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Primary, 39	Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41	Ciliary Dyskinesia, Primary, 42
Ciliary Dyskinesia, Primary, 43	Ciliary Dyskinesia, Primary, 44
Ciliary Dyskinesia, Primary, 45	Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Sources

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 41

Human phenotypes related to Ciliary Dyskinesia, Primary, 41:

³¹ (show all 6)

#	Description	HPO Source Accession
1	recurrent otitis media ³¹	HP:0000403
2	infertility ³¹	HP:0000789
3	bronchiectasis ³¹	HP:0002110
4	recurrent sinusitis ³¹	HP:0011108
5	nonmotile sperm ³¹	HP:0012208
6	impaired nasal mucociliary clearance ³¹	HP:0031603

Symptoms via clinical synopsis from OMIM:

⁵⁶

Respiratory Lung:
bronchiectasis

Head And Neck Ears:
otitis media, recurrent

Laboratory Abnormalities:
impaired mucociliary clearance
normal ciliary ultrastructure
hyperkinetic ciliary beat frequency
abnormal orientation of ciliary basal feet

Respiratory Nasopharynx:
sinusitis, recurrent

Genitourinary Internal Genitalia Male:
infertility due to immotile sperm

Clinical features from OMIM:

618449

Sources

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 41

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 41

Sources

Genetic Tests for Ciliary Dyskinesia, Primary, 41

Genetic tests related to Ciliary Dyskinesia, Primary, 41:

#	Genetic test	Affiliating Genes
1	Ciliary Dyskinesia, Primary, 41 ²⁹

Sources

Anatomical Context for Ciliary Dyskinesia, Primary, 41

Sources

Publications for Ciliary Dyskinesia, Primary, 41

Articles related to Ciliary Dyskinesia, Primary, 41:

#	Title	Authors	PMID	Year
1	Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. ⁵⁶ ⁶	Bustamante-Marin XM...Ostrowski LE	30665704	2019
2	New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. ⁶	Mata M...Cortijo J	22801010	2012
3	Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. ⁶	Milara J...Cortijo J	20537283	2010
4	Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. ⁶	Fernandez-Gonzalez A...Mitsialis SA	18776131	2009
5	Primary Ciliary Dyskinesia ⁶	Zariwala MA...Leigh MW	20301301	2007

Sources

Genes for Ciliary Dyskinesia, Primary, 41

Genes related to Ciliary Dyskinesia, Primary, 41 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GAS2L2	Growth Arrest Specific 2 Like 2	Protein Coding	967.26	Molecular basis known ⁵⁶ Pathogenic ⁶ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	30665704

Sources

Variations for Ciliary Dyskinesia, Primary, 41

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 41:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GAS2L2	NM_139285.3(GAS2L2):c.887_890delTAAG (p.Val296Glyfs)	deletion	Pathogenic	633450	rs587633197	17:34074230-34074233	17:35747211-35747214

Sources

Expression for Ciliary Dyskinesia, Primary, 41

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 41.

Sources

Pathways for Ciliary Dyskinesia, Primary, 41

Sources

GO Terms for Ciliary Dyskinesia, Primary, 41

Sources

Sources for Ciliary Dyskinesia, Primary, 41

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Ciliary Dyskinesia, Primary, 41 (CILD41)

Aliases & Classifications for Ciliary Dyskinesia, Primary, 41

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 41:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ciliary Dyskinesia, Primary, 41

Related Diseases for Ciliary Dyskinesia, Primary, 41

Diseases in the Primary Ciliary Dyskinesia family:

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 41

Human phenotypes related to Ciliary Dyskinesia, Primary, 41:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 41

Genetic Tests for Ciliary Dyskinesia, Primary, 41

Genetic tests related to Ciliary Dyskinesia, Primary, 41:

Anatomical Context for Ciliary Dyskinesia, Primary, 41

Publications for Ciliary Dyskinesia, Primary, 41

Articles related to Ciliary Dyskinesia, Primary, 41:

Genes for Ciliary Dyskinesia, Primary, 41

Genes related to Ciliary Dyskinesia, Primary, 41 (1 elite genes):

Variations for Ciliary Dyskinesia, Primary, 41

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 41:

Expression for Ciliary Dyskinesia, Primary, 41

Pathways for Ciliary Dyskinesia, Primary, 41

GO Terms for Ciliary Dyskinesia, Primary, 41

Sources for Ciliary Dyskinesia, Primary, 41