CILD10
MCID: CLR056
MIFTS: 32

Ciliary Dyskinesia, Primary, 10 (CILD10)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 10

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 10:

Name: Ciliary Dyskinesia, Primary, 10 57 72 29 13 6 70
Cild10 57 12 72
Primary Ciliary Dyskinesia 10 with or Without Situs Inversus 12 72
Primary Ciliary Dyskinesia 10 12 15
Ciliary Dyskinesia, Primary, 10, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 10 39
Immotile Cilia Syndrome 10 72
Ics10 72

Characteristics:

HPO:

31
ciliary dyskinesia, primary, 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110612
OMIM® 57 612518
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C2675867
UMLS 70 C2675867

Summaries for Ciliary Dyskinesia, Primary, 10

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 10: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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.

MalaCards based summary : Ciliary Dyskinesia, Primary, 10, also known as cild10, is related to congenital disorder of glycosylation, type iia and ciliary dyskinesia, primary, 13. An important gene associated with Ciliary Dyskinesia, Primary, 10 is DNAAF2 (Dynein Axonemal Assembly Factor 2). Related phenotypes are chronic otitis media and situs inversus totalis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has material basis in homozygous mutation in the KTU gene on chromosome 14q21.

More information from OMIM: 612518 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 10

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, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iia 9.9 MGAT2 DNAAF2
2 ciliary dyskinesia, primary, 13 9.9 RSPH9 RSPH4A DNAAF2
3 rigid spine muscular dystrophy 1 9.8 RSPH9 RSPH4A
4 ciliary dyskinesia, primary, 6 9.8 RSPH9 RSPH4A NME8
5 middle ear disease 9.7 RSPH9 RSPH4A DNAI2
6 ciliary dyskinesia, primary, 2 9.7 NME8 DNAI2 DNAAF2
7 paranasal sinus disease 9.6 RSPH9 RSPH4A DNAI2 DNAAF2
8 bronchiectasis 9.6 RSPH9 RSPH4A DNAI2 DNAAF2
9 ciliary dyskinesia, primary, 1 9.4 RSPH9 RSPH4A NME8 DNAI2 DNAAF2
10 situs inversus 9.0 RSPH9 RSPH4A NPHP3 NME8 DNAI2 DNAAF2
11 visceral heterotaxy 9.0 RSPH9 RSPH4A NPHP3 NME8 DNAI2 DNAAF2
12 kartagener syndrome 9.0 RSPH9 RSPH4A NPHP3 NME8 DNAI2 DNAAF2
13 primary ciliary dyskinesia 8.8 RSPH9 RSPH4A NPHP3 NME8 MGAT2 DNAI2
14 retinitis pigmentosa 8.6 RSPH9 RSPH4A PSMD5 NPHP3 NME8 DNAI2
15 ciliary dyskinesia, primary, 9 8.3 SP2 RSPH9 RSPH4A PSMD5 NPHP3 NME8

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 10:



Diseases related to Ciliary Dyskinesia, Primary, 10

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 10

Human phenotypes related to Ciliary Dyskinesia, Primary, 10:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 31 very rare (1%) HP:0000389
2 situs inversus totalis 31 very rare (1%) HP:0001696
3 chronic sinusitis 31 very rare (1%) HP:0011109
4 ciliary dyskinesia 31 HP:0012265
5 recurrent sinusitis 31 HP:0011108
6 abnormal respiratory motile cilium morphology 31 HP:0005938

Clinical features from OMIM®:

612518 (Updated 20-May-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 10

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 10

Genetic Tests for Ciliary Dyskinesia, Primary, 10

Genetic tests related to Ciliary Dyskinesia, Primary, 10:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 10 29 DNAAF2

Anatomical Context for Ciliary Dyskinesia, Primary, 10

Publications for Ciliary Dyskinesia, Primary, 10

Articles related to Ciliary Dyskinesia, Primary, 10:

# Title Authors PMID Year
1
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. 6 57
19052621 2008
2
Investigation of differences in sensitivity between 3 strains of Daphnia magna (crustacean Cladocera) exposed to malathion (organophosphorous pesticide). 61
25421626 2015

Variations for Ciliary Dyskinesia, Primary, 10

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 10:

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAAF2 NM_018139.3(DNAAF2):c.117C>A (p.Tyr39Ter) SNV Pathogenic 998214 GRCh37: 14:50101751-50101751
GRCh38: 14:49635033-49635033
2 DNAAF2 NM_018139.2(DNAAF2):c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) Duplication Pathogenic 208847 rs397515341 GRCh37: 14:50100653-50100654
GRCh38: 14:49633935-49633936
3 DNAAF2 NM_018139.2(DNAAF2):c.23C>A (p.Ser8Ter) SNV Pathogenic 529 rs137853191 GRCh37: 14:50101845-50101845
GRCh38: 14:49635127-49635127
4 DNAAF2 NM_018139.2(DNAAF2):c.2428C>T (p.Gln810Ter) SNV Likely pathogenic 803024 rs747290752 GRCh37: 14:50092346-50092346
GRCh38: 14:49625628-49625628
5 DNAAF2 NM_018139.2(DNAAF2):c.411C>A (p.Ser137Arg) SNV Uncertain significance 705799 rs541232616 GRCh37: 14:50101457-50101457
GRCh38: 14:49634739-49634739
6 DNAAF2 NM_018139.3(DNAAF2):c.65G>A (p.Arg22Gln) SNV Uncertain significance 1033890 GRCh37: 14:50101803-50101803
GRCh38: 14:49635085-49635085
7 DNAAF2 NM_018139.2(DNAAF2):c.387C>G (p.Arg129=) SNV Uncertain significance 313287 rs886050529 GRCh37: 14:50101481-50101481
GRCh38: 14:49634763-49634763
8 DNAAF2 NM_018139.2(DNAAF2):c.196G>A (p.Glu66Lys) SNV Uncertain significance 313290 rs779375480 GRCh37: 14:50101672-50101672
GRCh38: 14:49634954-49634954
9 DNAAF2 NM_018139.2(DNAAF2):c.1215T>G (p.Ala405=) SNV Uncertain significance 313280 rs886050526 GRCh37: 14:50100653-50100653
GRCh38: 14:49633935-49633935
10 DNAAF2 NM_018139.2(DNAAF2):c.*191A>G SNV Uncertain significance 313272 rs886050525 GRCh37: 14:50092069-50092069
GRCh38: 14:49625351-49625351
11 DNAAF2 NM_018139.2(DNAAF2):c.1315G>C (p.Asp439His) SNV Uncertain significance 313279 rs371126037 GRCh37: 14:50100553-50100553
GRCh38: 14:49633835-49633835
12 DNAAF2 NM_018139.2(DNAAF2):c.1120G>C (p.Gly374Arg) SNV Uncertain significance 313281 rs886050527 GRCh37: 14:50100748-50100748
GRCh38: 14:49634030-49634030
13 DNAAF2 NM_018139.2(DNAAF2):c.2381C>T (p.Thr794Met) SNV Uncertain significance 313276 rs185361306 GRCh37: 14:50092393-50092393
GRCh38: 14:49625675-49625675
14 DNAAF2 NM_018139.2(DNAAF2):c.1595A>G (p.Glu532Gly) SNV Uncertain significance 228604 rs143210369 GRCh37: 14:50100273-50100273
GRCh38: 14:49633555-49633555
15 DNAAF2 NM_018139.2(DNAAF2):c.1463G>A (p.Gly488Glu) SNV Uncertain significance 228602 rs200121200 GRCh37: 14:50100405-50100405
GRCh38: 14:49633687-49633687
16 DNAAF2 NM_018139.2(DNAAF2):c.332G>C (p.Arg111Pro) SNV Uncertain significance 313288 rs549781788 GRCh37: 14:50101536-50101536
GRCh38: 14:49634818-49634818
17 DNAAF2 NM_018139.2(DNAAF2):c.734C>T (p.Ala245Val) SNV Uncertain significance 313282 rs754858452 GRCh37: 14:50101134-50101134
GRCh38: 14:49634416-49634416
18 DNAAF2 NM_018139.2(DNAAF2):c.1624C>T (p.Arg542Trp) SNV Uncertain significance 313278 rs201615253 GRCh37: 14:50100244-50100244
GRCh38: 14:49633526-49633526
19 DNAAF2 NM_018139.3(DNAAF2):c.2053A>G (p.Arg685Gly) SNV Uncertain significance 880866 GRCh37: 14:50092721-50092721
GRCh38: 14:49626003-49626003
20 DNAAF2 NM_018139.3(DNAAF2):c.1825A>G (p.Arg609Gly) SNV Uncertain significance 880867 GRCh37: 14:50100043-50100043
GRCh38: 14:49633325-49633325
21 DNAAF2 NM_018139.3(DNAAF2):c.1781C>T (p.Ala594Val) SNV Uncertain significance 880868 GRCh37: 14:50100087-50100087
GRCh38: 14:49633369-49633369
22 DNAAF2 NM_018139.3(DNAAF2):c.1136C>G (p.Ala379Gly) SNV Uncertain significance 880923 GRCh37: 14:50100732-50100732
GRCh38: 14:49634014-49634014
23 DNAAF2 NM_018139.3(DNAAF2):c.1114C>G (p.Arg372Gly) SNV Uncertain significance 880924 GRCh37: 14:50100754-50100754
GRCh38: 14:49634036-49634036
24 DNAAF2 NM_018139.3(DNAAF2):c.1070C>T (p.Pro357Leu) SNV Uncertain significance 880925 GRCh37: 14:50100798-50100798
GRCh38: 14:49634080-49634080
25 DNAAF2 NM_018139.3(DNAAF2):c.864A>G (p.Glu288=) SNV Uncertain significance 880926 GRCh37: 14:50101004-50101004
GRCh38: 14:49634286-49634286
26 DNAAF2 NM_018139.3(DNAAF2):c.779G>T (p.Arg260Leu) SNV Uncertain significance 880927 GRCh37: 14:50101089-50101089
GRCh38: 14:49634371-49634371
27 DNAAF2 NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=) SNV Uncertain significance 882238 GRCh37: 14:50100272-50100272
GRCh38: 14:49633554-49633554
28 DNAAF2 NM_018139.3(DNAAF2):c.1568C>T (p.Pro523Leu) SNV Uncertain significance 882239 GRCh37: 14:50100300-50100300
GRCh38: 14:49633582-49633582
29 DNAAF2 NM_018139.3(DNAAF2):c.1552G>A (p.Gly518Arg) SNV Uncertain significance 882240 GRCh37: 14:50100316-50100316
GRCh38: 14:49633598-49633598
30 DNAAF2 NM_018139.3(DNAAF2):c.1502C>T (p.Thr501Met) SNV Uncertain significance 882490 GRCh37: 14:50100366-50100366
GRCh38: 14:49633648-49633648
31 DNAAF2 NM_018139.3(DNAAF2):c.1468A>G (p.Ser490Gly) SNV Uncertain significance 882491 GRCh37: 14:50100400-50100400
GRCh38: 14:49633682-49633682
32 DNAAF2 NM_018139.3(DNAAF2):c.270G>C (p.Val90=) SNV Uncertain significance 882557 GRCh37: 14:50101598-50101598
GRCh38: 14:49634880-49634880
33 DNAAF2 NM_018139.3(DNAAF2):c.-4C>G SNV Uncertain significance 883337 GRCh37: 14:50101871-50101871
GRCh38: 14:49635153-49635153
34 DNAAF2 NM_018139.3(DNAAF2):c.*213A>G SNV Uncertain significance 884149 GRCh37: 14:50092047-50092047
GRCh38: 14:49625329-49625329
35 DNAAF2 NM_018139.3(DNAAF2):c.*157A>G SNV Uncertain significance 884150 GRCh37: 14:50092103-50092103
GRCh38: 14:49625385-49625385
36 DNAAF2 NM_018139.3(DNAAF2):c.1349G>T (p.Ser450Ile) SNV Uncertain significance 884211 GRCh37: 14:50100519-50100519
GRCh38: 14:49633801-49633801
37 DNAAF2 NM_018139.3(DNAAF2):c.1147G>A (p.Ala383Thr) SNV Uncertain significance 884212 GRCh37: 14:50100721-50100721
GRCh38: 14:49634003-49634003
38 DNAAF2 NM_018139.2(DNAAF2):c.20C>T (p.Ser7Phe) SNV Uncertain significance 216704 rs577796590 GRCh37: 14:50101848-50101848
GRCh38: 14:49635130-49635130
39 DNAAF2 NM_018139.2(DNAAF2):c.2388C>T (p.His796=) SNV Uncertain significance 313275 rs140997181 GRCh37: 14:50092386-50092386
GRCh38: 14:49625668-49625668
40 DNAAF2 NM_018139.2(DNAAF2):c.1405T>A (p.Cys469Ser) SNV Uncertain significance 241280 rs202079418 GRCh37: 14:50100463-50100463
GRCh38: 14:49633745-49633745
41 DNAAF2 NM_018139.3(DNAAF2):c.1719A>G (p.Gln573=) SNV Uncertain significance 880869 GRCh37: 14:50100149-50100149
GRCh38: 14:49633431-49633431
42 DNAAF2 NM_018139.2(DNAAF2):c.1584T>A (p.Asn528Lys) SNV Uncertain significance 193393 rs144077436 GRCh37: 14:50100284-50100284
GRCh38: 14:49633566-49633566
43 DNAAF2 NM_018139.2(DNAAF2):c.384C>A (p.Gly128=) SNV Uncertain significance 261019 rs200484042 GRCh37: 14:50101484-50101484
GRCh38: 14:49634766-49634766
44 DNAAF2 NM_001083908.1(DNAAF2):c.1864-2002C>T SNV Uncertain significance 411167 rs187863107 GRCh37: 14:50094768-50094768
GRCh38: 14:49628050-49628050
45 DNAAF2 NM_018139.2(DNAAF2):c.1585C>T (p.Gln529Ter) SNV Uncertain significance 631710 rs139416233 GRCh37: 14:50100283-50100283
GRCh38: 14:49633565-49633565
46 DNAAF2 NM_018139.2(DNAAF2):c.824C>T (p.Ala275Val) SNV Uncertain significance 241283 rs200291432 GRCh37: 14:50101044-50101044
GRCh38: 14:49634326-49634326
47 DNAAF2 NM_018139.2(DNAAF2):c.1687G>T (p.Ala563Ser) SNV Uncertain significance 313277 rs138511448 GRCh37: 14:50100181-50100181
GRCh38: 14:49633463-49633463
48 DNAAF2 NM_018139.2(DNAAF2):c.731C>A (p.Ala244Glu) SNV Uncertain significance 313283 rs112700048 GRCh37: 14:50101137-50101137
GRCh38: 14:49634419-49634419
49 DNAAF2 NM_018139.2(DNAAF2):c.700C>T (p.Pro234Ser) SNV Uncertain significance 313284 rs776126134 GRCh37: 14:50101168-50101168
GRCh38: 14:49634450-49634450
50 DNAAF2 NM_018139.2(DNAAF2):c.471C>T (p.His157=) SNV Uncertain significance 313286 rs886050528 GRCh37: 14:50101397-50101397
GRCh38: 14:49634679-49634679

Expression for Ciliary Dyskinesia, Primary, 10

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 10.

Pathways for Ciliary Dyskinesia, Primary, 10

GO Terms for Ciliary Dyskinesia, Primary, 10

Cellular components related to Ciliary Dyskinesia, Primary, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.67 RSPH9 RSPH4A NPHP3 DNAI2
2 cilium GO:0005929 9.46 RSPH9 RSPH4A NPHP3 DNAI2
3 9+2 motile cilium GO:0097729 9.32 RSPH9 DNAI2
4 outer dynein arm GO:0036157 9.26 NME8 DNAI2
5 radial spoke GO:0001534 8.96 RSPH9 RSPH4A
6 axoneme GO:0005930 8.92 RSPH9 RSPH4A NME8 DNAI2

Biological processes related to Ciliary Dyskinesia, Primary, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.54 RSPH9 RSPH4A DNAI2
2 determination of left/right symmetry GO:0007368 9.4 NPHP3 DNAI2
3 axoneme assembly GO:0035082 9.32 RSPH9 RSPH4A
4 outer dynein arm assembly GO:0036158 9.26 DNAI2 DNAAF2
5 cilium movement involved in cell motility GO:0060294 9.16 RSPH9 RSPH4A
6 cilium movement GO:0003341 9.13 RSPH9 RSPH4A DNAI2
7 cilium assembly GO:0060271 9.02 RSPH9 RSPH4A NPHP3 NME8 DNAI2

Sources for Ciliary Dyskinesia, Primary, 10

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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