MCID: CLR090
MIFTS: 24

Ciliary Dyskinesia, Primary, 22

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 22

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 22:

Name: Ciliary Dyskinesia, Primary, 22 57 75 29 6 73
Cild22 57 12 75
Primary Ciliary Dyskinesia 22 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 22, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 22 40
Primary Ciliary Dyskinesia 22 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

32
ciliary dyskinesia, primary, 22:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 22

OMIM : 57 Primary ciliary dyskinesia-22 is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by Zariwala et al., 2013). (615444)

MalaCards based summary : Ciliary Dyskinesia, Primary, 22, also known as cild22, is related to kartagener syndrome and nasopharyngeal carcinoma. An important gene associated with Ciliary Dyskinesia, Primary, 22 is ZMYND10 (Zinc Finger MYND-Type Containing 10). Related phenotypes are recurrent otitis media and infertility

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 22: 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. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has material basis in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.

Related Diseases for Ciliary Dyskinesia, Primary, 22

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 22

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
rhinitis
nasal polyps

Respiratory:
respiratory infections, recurrent
respiratory insufficiency due to defective ciliary clearance

Head And Neck Ears:
otitis media, recurrent

GenitourinaryInternal GenitaliaMale:
infertility due to immotile sperm

Respiratory Airways:
chronic bronchitis

Head And Neck Head:
sinusitis, recurrent

Laboratory Abnormalities:
decreased nasal nitric oxide
electron microscopy of patient respiratory cells shows absent inner and outer dynein arms
lack of ciliary motility

Abdomen:
situs inversus (in about 50% of patients)


Clinical features from OMIM:

615444

Human phenotypes related to Ciliary Dyskinesia, Primary, 22:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 infertility 32 HP:0000789
3 situs inversus totalis 32 HP:0001696
4 bronchiectasis 32 HP:0002110
5 chronic bronchitis 32 HP:0004469
6 recurrent sinusitis 32 HP:0011108
7 reduced sperm motility 32 HP:0012207
8 ciliary dyskinesia 32 HP:0012265
9 rhinitis 32 HP:0012384
10 nasal polyposis 32 HP:0100582
11 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 22

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 22

Genetic Tests for Ciliary Dyskinesia, Primary, 22

Genetic tests related to Ciliary Dyskinesia, Primary, 22:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 22 29 ZMYND10

Anatomical Context for Ciliary Dyskinesia, Primary, 22

Publications for Ciliary Dyskinesia, Primary, 22

Variations for Ciliary Dyskinesia, Primary, 22

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 22:

75
# Symbol AA change Variation ID SNP ID
1 ZMYND10 p.Val16Gly VAR_070184 rs138815960
2 ZMYND10 p.Ser29Pro VAR_070185 rs587621539
3 ZMYND10 p.Leu39Pro VAR_070186
4 ZMYND10 p.Leu266Pro VAR_070187 rs200913791
5 ZMYND10 p.Tyr379Cys VAR_070189 rs753061612

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 22:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZMYND10 NM_015896.3(ZMYND10): c.486dupA (p.Ser163Ilefs) duplication Pathogenic rs587777044 GRCh37 Chromosome 3, 50380762: 50380762
2 ZMYND10 NM_015896.3(ZMYND10): c.486dupA (p.Ser163Ilefs) duplication Pathogenic rs587777044 GRCh38 Chromosome 3, 50343331: 50343331
3 ZMYND10 NM_015896.3(ZMYND10): c.967C> T (p.Gln323Ter) single nucleotide variant Pathogenic rs397515460 GRCh37 Chromosome 3, 50379478: 50379478
4 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh37 Chromosome 3, 50382964: 50382964
5 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh38 Chromosome 3, 50345533: 50345533
6 ZMYND10 NM_015896.3(ZMYND10): c.300delC (p.Phe101Serfs) deletion Pathogenic rs587777043 GRCh37 Chromosome 3, 50381183: 50381183
7 ZMYND10 NM_015896.3(ZMYND10): c.300delC (p.Phe101Serfs) deletion Pathogenic rs587777043 GRCh38 Chromosome 3, 50343752: 50343752
8 ZMYND10 NM_015896.3(ZMYND10): c.967C> T (p.Gln323Ter) single nucleotide variant Pathogenic rs397515460 GRCh38 Chromosome 3, 50342047: 50342047
9 ZMYND10 NM_015896.3(ZMYND10): c.593_594delTG (p.Val198Glyfs) deletion Pathogenic rs587777045 GRCh37 Chromosome 3, 50380554: 50380555
10 ZMYND10 NM_015896.3(ZMYND10): c.593_594delTG (p.Val198Glyfs) deletion Pathogenic rs587777045 GRCh38 Chromosome 3, 50343123: 50343124
11 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Likely pathogenic rs200913791 GRCh37 Chromosome 3, 50379904: 50379904
12 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Likely pathogenic rs200913791 GRCh38 Chromosome 3, 50342473: 50342473

Expression for Ciliary Dyskinesia, Primary, 22

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 22.

Pathways for Ciliary Dyskinesia, Primary, 22

GO Terms for Ciliary Dyskinesia, Primary, 22

Cellular components related to Ciliary Dyskinesia, Primary, 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.96 RASSF1 ZMYND10
2 microtubule organizing center GO:0005815 8.62 RASSF1 ZMYND10

Sources for Ciliary Dyskinesia, Primary, 22

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74 UMLS via Orphanet
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