CILD26
MCID: CLR106
MIFTS: 30

Ciliary Dyskinesia, Primary, 26 (CILD26)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 26

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 26:

Name: Ciliary Dyskinesia, Primary, 26 57 73 29 6 71
Cild26 57 12 73
Primary Ciliary Dyskinesia 26 with or Without Situs Inversus 12 73
Primary Ciliary Dyskinesia 26 12 15
Ciliary Dyskinesia, Primary, 26, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 26 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or neonatal period


HPO:

31
ciliary dyskinesia, primary, 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110627
OMIM® 57 615500
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
UMLS 71 C3809684

Summaries for Ciliary Dyskinesia, Primary, 26

OMIM® : 57 Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615500) (Updated 05-Mar-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 26, also known as cild26, is related to mild cognitive impairment and chronic wasting disease. An important gene associated with Ciliary Dyskinesia, Primary, 26 is CFAP298 (Cilia And Flagella Associated Protein 298), and among its related pathways/superpathways is Copper homeostasis. Related phenotypes are recurrent otitis media and neonatal respiratory distress

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 26: 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, 26

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

Diseases related to Ciliary Dyskinesia, Primary, 26 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 mild cognitive impairment 9.8 SOD1 APP
2 chronic wasting disease 9.8 SOD1 APP
3 kuru 9.7 SOD1 APP
4 toxic encephalopathy 9.7 SOD1 APP
5 supranuclear palsy, progressive, 1 9.7 SOD1 APP
6 vascular dementia 9.7 SOD1 APP
7 wilson disease 9.6 SOD1 APP
8 dementia, lewy body 9.6 SOD1 APP
9 chromosomal duplication syndrome 9.5 SYNJ1 SOD1 APP
10 pick disease of brain 9.5 SOD1 APP
11 down syndrome 9.4 SYNJ1 SOD1 APP
12 developmental and epileptic encephalopathy 53 9.2 TMPRSS15 SYNJ1 MRAP LIPI CFAP298

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 26:



Diseases related to Ciliary Dyskinesia, Primary, 26

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 26

Human phenotypes related to Ciliary Dyskinesia, Primary, 26:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 very rare (1%) HP:0000403
2 neonatal respiratory distress 31 very rare (1%) HP:0002643
3 situs inversus totalis 31 very rare (1%) HP:0001696
4 bronchiectasis 31 very rare (1%) HP:0002110
5 recurrent sinusitis 31 very rare (1%) HP:0011108
6 immotile cilia 31 very rare (1%) HP:0012263
7 decreased nasal nitric oxide 31 very rare (1%) HP:0033036
8 infertility 31 HP:0000789
9 ciliary dyskinesia 31 HP:0012265
10 rhinitis 31 HP:0012384
11 reduced sperm motility 31 HP:0012207
12 chronic bronchitis 31 HP:0004469
13 respiratory insufficiency due to defective ciliary clearance 31 HP:0200073
14 absent outer dynein arms 31 HP:0012256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Respiratory Lung:
bronchiectasis

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

Head And Neck Head:
sinusitis, recurrent

Head And Neck Nose:
rhinitis, recurrent

Genitourinary Internal Genitalia Male:
infertility due to immotile sperm

Respiratory Airways:
chronic bronchitis

Laboratory Abnormalities:
decreased nasal nitric oxide
electron microscopy of patient respiratory cells shows absent outer dynein arms
variable defects of inner dynein arms
severely impaired ciliary motility

Head And Neck Ears:
otitis media, recurrent

Abdomen:
situs inversus (in about half of patients)

Clinical features from OMIM®:

615500 (Updated 05-Mar-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 26

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 26

Genetic Tests for Ciliary Dyskinesia, Primary, 26

Genetic tests related to Ciliary Dyskinesia, Primary, 26:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 26 29 CFAP298

Anatomical Context for Ciliary Dyskinesia, Primary, 26

Publications for Ciliary Dyskinesia, Primary, 26

Articles related to Ciliary Dyskinesia, Primary, 26:

# Title Authors PMID Year
1
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 6 57
24094744 2013

Variations for Ciliary Dyskinesia, Primary, 26

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 26:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFAP298-TCP10L NM_021254.4(CFAP298):c.721C>T (p.Gln241Ter) SNV Pathogenic 869379 21:33974623-33974623 21:32602313-32602313
2 CFAP298-TCP10L NM_021254.4(CFAP298):c.792_795del (p.Ala263_Tyr264insTer) Deletion Pathogenic 88690 rs398122401 21:33974251-33974254 21:32601941-32601944
3 CFAP298-TCP10L NM_021254.4(CFAP298):c.557_566dup (p.Gln190fs) Duplication Pathogenic 525239 rs746361802 21:33975570-33975571 21:32603260-32603261
4 CFAP298-TCP10L NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter) SNV Pathogenic 209002 rs202094637 21:33974609-33974609 21:32602299-32602299
5 CFAP298-TCP10L NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter) SNV Pathogenic 88689 rs143740376 21:33982163-33982163 21:32609853-32609853

Expression for Ciliary Dyskinesia, Primary, 26

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 26.

Pathways for Ciliary Dyskinesia, Primary, 26

Pathways related to Ciliary Dyskinesia, Primary, 26 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.36 SOD1 APP

GO Terms for Ciliary Dyskinesia, Primary, 26

Cellular components related to Ciliary Dyskinesia, Primary, 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 8.8 SYNJ1 SOD1 APP

Biological processes related to Ciliary Dyskinesia, Primary, 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.33 TMPRSS15 SYNJ1 APP
2 locomotory behavior GO:0007626 9.32 SOD1 APP
3 learning GO:0007612 9.26 SYNJ1 APP
4 regulation of multicellular organism growth GO:0040014 8.96 SOD1 APP
5 regulation of cilium movement GO:0003352 8.62 CFAP298-TCP10L CFAP298

Sources for Ciliary Dyskinesia, Primary, 26

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....