CILD41
MCID: CLR141
MIFTS: 19

Ciliary Dyskinesia, Primary, 41 (CILD41)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

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 73

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:



External Ids:

OMIM 56 618449
OMIM Phenotypic Series 56 PS244400
MeSH 43 D002925

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

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)

Related Diseases for Ciliary Dyskinesia, Primary, 41

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 41

Human phenotypes related to Ciliary Dyskinesia, Primary, 41:

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

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

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 41

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

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 GAS2L2

Anatomical Context for Ciliary Dyskinesia, Primary, 41

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
30665704 2019
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
5
Primary Ciliary Dyskinesia 6
20301301 2007

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

Expression for Ciliary Dyskinesia, Primary, 41

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

Pathways for Ciliary Dyskinesia, Primary, 41

GO Terms for Ciliary Dyskinesia, Primary, 41

Sources for Ciliary Dyskinesia, Primary, 41

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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32 ICD10
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56 OMIM
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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