CILD22
MCID: CLR090
MIFTS: 23

Ciliary Dyskinesia, Primary, 22 (CILD22)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 22

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 22:

Name: Ciliary Dyskinesia, Primary, 22 57 72 29 6 70
Cild22 57 12 72
Primary Ciliary Dyskinesia 22 with or Without Situs Inversus 12 72
Ciliary Dyskinesia, Primary, 22, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 22 39
Primary Ciliary Dyskinesia 22 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

31
ciliary dyskinesia, primary, 22:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110597
OMIM® 57 615444
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
UMLS 70 C3809543

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) (Updated 20-May-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 22, is also known as cild22. 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

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.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Ciliary Dyskinesia, Primary, 22

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 22

Human phenotypes related to Ciliary Dyskinesia, Primary, 22:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 HP:0000403
2 infertility 31 HP:0000789
3 nasal polyposis 31 HP:0100582
4 situs inversus totalis 31 HP:0001696
5 bronchiectasis 31 HP:0002110
6 ciliary dyskinesia 31 HP:0012265
7 rhinitis 31 HP:0012384
8 recurrent sinusitis 31 HP:0011108
9 reduced sperm motility 31 HP:0012207
10 chronic bronchitis 31 HP:0004469
11 absent inner and outer dynein arms 31 HP:0012259
12 respiratory insufficiency due to defective ciliary clearance 31 HP:0200073

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
infertility
immotile sperm

Head And Neck Nose:
rhinitis

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

Respiratory Nasopharynx:
nasal polyps
sinusitis, recurrent

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

Respiratory Lung:
bronchiectasis

Respiratory Airways:
chronic bronchitis

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

Head And Neck Ears:
otitis media, recurrent

Clinical features from OMIM®:

615444 (Updated 20-May-2021)

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

Articles related to Ciliary Dyskinesia, Primary, 22:

# Title Authors PMID Year
1
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 6 57
23891469 2013
2
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. 57 6
23891471 2013

Variations for Ciliary Dyskinesia, Primary, 22

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZMYND10 NM_015896.4(ZMYND10):c.300del (p.Phe101fs) Deletion Pathogenic 66022 rs587777043 GRCh37: 3:50381183-50381183
GRCh38: 3:50343752-50343752
2 ZMYND10 NM_015896.4(ZMYND10):c.967C>T (p.Gln323Ter) SNV Pathogenic 66024 rs397515460 GRCh37: 3:50379478-50379478
GRCh38: 3:50342047-50342047
3 ZMYND10 NM_015896.4(ZMYND10):c.486dup (p.Ser163fs) Duplication Pathogenic 66023 rs587777044 GRCh37: 3:50380761-50380762
GRCh38: 3:50343330-50343331
4 ZMYND10 NM_015896.4(ZMYND10):c.589_590TG[2] (p.Val198fs) Microsatellite Pathogenic 66025 rs587777045 GRCh37: 3:50380554-50380555
GRCh38: 3:50343123-50343124
5 ZMYND10 NM_015896.4(ZMYND10):c.1131_1132del (p.Glu377fs) Microsatellite Pathogenic 1029417 GRCh37: 3:50379120-50379121
GRCh38: 3:50341689-50341690
6 ZMYND10 NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro) SNV Pathogenic 66026 rs200913791 GRCh37: 3:50379904-50379904
GRCh38: 3:50342473-50342473
7 ZMYND10 NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) SNV Pathogenic 66021 rs138815960 GRCh37: 3:50382964-50382964
GRCh38: 3:50345533-50345533
8 ZMYND10 NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr) SNV Uncertain significance 410633 rs146847253 GRCh37: 3:50381254-50381254
GRCh38: 3:50343823-50343823

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

72
# 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

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

Sources for Ciliary Dyskinesia, Primary, 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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