CILD4
MCID: CLR067
MIFTS: 27

Ciliary Dyskinesia, Primary, 4 (CILD4)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 4

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 4:

Name: Ciliary Dyskinesia, Primary, 4 57 29 13
Primary Ciliary Dyskinesia 4 12 15
Cild4 57 12
Ciliary Dyskinesia, Primary, 4, with or Without Situs Inversus 57
Primary Ciliary Dyskinesia 4 with or Without Situs Inversus 12
Primary Ciliary Dyskinesia, 4 70

Classifications:



External Ids:

Disease Ontology 12 DOID:0110614
OMIM® 57 608646
OMIM Phenotypic Series 57 PS244400
ICD10 32 Q34.8
MedGen 41 C1837616
UMLS 70 C1837616

Summaries for Ciliary Dyskinesia, Primary, 4

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.

MalaCards based summary : Ciliary Dyskinesia, Primary, 4, also known as primary ciliary dyskinesia 4, is related to primary ciliary dyskinesia and osteogenesis imperfecta, type xiv. An important gene associated with Ciliary Dyskinesia, Primary, 4 is CILD4 (Ciliary Dyskinesia, Primary, 4). Related phenotypes are cardiovascular system and craniofacial

More information from OMIM: 608646 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 4

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 28.3 RPGR OFD1 ODAD3 ODAD1 FAM187A DRC1
2 osteogenesis imperfecta, type xiv 10.2 ODAD3 DNAH5
3 anomalous origin of coronary artery from the pulmonary artery 10.2 DNAH5 CCDC65
4 ciliary dyskinesia, primary, 2 10.1 DNAI1 DNAH5 DNAH11
5 dextro-looped transposition of the great arteries 10.1 DNAI1 DNAH5 DNAH11
6 retinitis pigmentosa 34 10.1 RPGR OFD1
7 ciliary dyskinesia, primary, 17 10.0 FAM187A CCDC103
8 chromosome 17q12 duplication syndrome 10.0 FAM187A CCDC103
9 retinitis pigmentosa 28 10.0 RPGR OFD1
10 middle ear disease 9.9 DNAI1 DNAH5 DNAH11 CCDC40
11 paranasal sinus disease 9.9 DNAI1 DNAH5 DNAH11 CCDC40
12 right atrial isomerism 9.8 DNAI1 DNAH5 DNAH11 CCDC39
13 meckel syndrome, type 1 9.8 RPGR OFD1 DNAI1 DNAH5 DNAH11
14 male infertility 9.8 DNAI1 DNAH5 DNAH11 CCDC40
15 joubert syndrome 1 9.7 RPGR OFD1 DNAI1 DNAH5 DNAH11
16 infertility 9.7 DNAI1 DNAH5 DNAH11 CCDC39
17 larsen-like syndrome b3gat3 type 9.7 TRIM8 MAF
18 nivelon-nivelon-mabille syndrome 9.6 TRIM8 MAF
19 postaxial acrofacial dysostosis 9.6 TRIM8 DNAH5
20 bronchiectasis 9.5 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
21 dextrocardia 9.5 ODAD3 FAM187A DNAI1 DNAH5 DNAH11 CCDC40
22 retinitis pigmentosa 9.0 TRIM8 RPGR OFD1 MAF DNAI1 DNAH5
23 situs inversus 8.7 ODAD3 ODAD1 DRC1 DNAI1 DNAH5 DNAH11
24 visceral heterotaxy 8.1 RPGR OFD1 ODAD3 ODAD1 FAM187A DRC1
25 kartagener syndrome 8.1 RPGR OFD1 ODAD3 ODAD1 FAM187A DRC1
26 ciliary dyskinesia, primary, 1 8.1 RPGR OFD1 ODAD3 ODAD1 FAM187A DRC1
27 ciliary dyskinesia, primary, 8 7.2 ZNF595 TRIM8 RPGR OFD1 ODAD3 ODAD1

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 4:



Diseases related to Ciliary Dyskinesia, Primary, 4

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 4

Clinical features from OMIM®:

608646 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 CCDC39 DNAH11 DNAH5 DNAI1 DRC1 MAF
2 craniofacial MP:0005382 9.76 CCDC39 DNAH11 DNAH5 DNAI1 DRC1 MAF
3 respiratory system MP:0005388 9.56 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1 DRC1
4 skeleton MP:0005390 9.23 CCDC39 DNAH11 DNAH5 DNAI1 DRC1 ODAD3

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 4

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 4

Genetic Tests for Ciliary Dyskinesia, Primary, 4

Genetic tests related to Ciliary Dyskinesia, Primary, 4:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 4 29

Anatomical Context for Ciliary Dyskinesia, Primary, 4

Publications for Ciliary Dyskinesia, Primary, 4

Articles related to Ciliary Dyskinesia, Primary, 4:

# Title Authors PMID Year
1
Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. 57
14985390 2004

Variations for Ciliary Dyskinesia, Primary, 4

Expression for Ciliary Dyskinesia, Primary, 4

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 4.

Pathways for Ciliary Dyskinesia, Primary, 4

GO Terms for Ciliary Dyskinesia, Primary, 4

Cellular components related to Ciliary Dyskinesia, Primary, 4 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.31 TRIM8 RPGR OFD1 ODAD3 MAF DRC1
2 cell projection GO:0042995 10.03 RPGR OFD1 ODAD3 ODAD1 DRC1 DNAI1
3 cytoskeleton GO:0005856 10.02 RPGR OFD1 ODAD3 DRC1 DNAI1 DNAH5
4 motile cilium GO:0031514 9.87 RPGR OFD1 DRC1 DNAH5 DNAH11 CCDC65
5 ciliary basal body GO:0036064 9.78 RPGR OFD1 ODAD3 CCDC65
6 dynein complex GO:0030286 9.63 DNAI1 DNAH5 DNAH11
7 axonemal dynein complex GO:0005858 9.61 DRC1 DNAH5 CCDC65
8 axoneme GO:0005930 9.61 ODAD3 ODAD1 DRC1 DNAH5 DNAH11 CCDC65
9 9+2 motile cilium GO:0097729 9.58 DNAI1 DNAH5 DNAH11
10 outer dynein arm GO:0036157 9.55 ODAD1 FAM187A DNAI1 DNAH5 CCDC103
11 cilium GO:0005929 9.4 RPGR OFD1 ODAD3 ODAD1 DRC1 DNAI1

Biological processes related to Ciliary Dyskinesia, Primary, 4 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.92 DRC1 DNAI1 DNAH5 DNAH11 CCDC39
2 cell projection organization GO:0030030 9.88 RPGR OFD1 ODAD3 DNAI1 CCDC103
3 cilium assembly GO:0060271 9.87 RPGR OFD1 DNAH5 CCDC65
4 flagellated sperm motility GO:0030317 9.8 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39
5 determination of left/right symmetry GO:0007368 9.8 ODAD3 DRC1 DNAI1 DNAH5 DNAH11 CCDC39
6 microtubule-based movement GO:0007018 9.77 DNAI1 DNAH5 DNAH11
7 outer dynein arm assembly GO:0036158 9.77 ODAD3 ODAD1 DNAI1 DNAH5 CCDC103
8 heart looping GO:0001947 9.75 CCDC40 CCDC39 CCDC103
9 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.72 OFD1 DNAH11 CCDC40 CCDC39 CCDC103
10 cilium-dependent cell motility GO:0060285 9.69 DRC1 CCDC65 CCDC39
11 inner dynein arm assembly GO:0036159 9.67 CCDC40 CCDC39 CCDC103
12 regulation of cilium beat frequency GO:0003356 9.63 DNAH11 CCDC40 CCDC39
13 epithelial cilium movement GO:0003351 9.63 DNAI1 DNAH5 DNAH11 CCDC40 CCDC39 CCDC103
14 determination of digestive tract left/right asymmetry GO:0071907 9.61 CCDC40 CCDC39 CCDC103
15 motile cilium assembly GO:0044458 9.6 CCDC40 CCDC39
16 establishment of localization in cell GO:0051649 9.58 DNAH5 CCDC39
17 determination of liver left/right asymmetry GO:0071910 9.56 CCDC40 CCDC39
18 determination of pancreatic left/right asymmetry GO:0035469 9.55 CCDC40 CCDC39
19 regulation of cilium movement GO:0003352 9.54 DRC1 CCDC65
20 axonemal dynein complex assembly GO:0070286 9.5 ODAD3 FAM187A DRC1 CCDC65 CCDC40 CCDC39
21 cilium movement GO:0003341 9.23 ODAD3 ODAD1 DNAI1 DNAH5 DNAH11 CCDC40

Molecular functions related to Ciliary Dyskinesia, Primary, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.26 DNAH5 DNAH11
2 dynein light intermediate chain binding GO:0051959 9.16 DNAH5 DNAH11
3 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.96 DNAH5 DNAH11
4 motor activity GO:0003774 8.8 DNAI1 DNAH5 DNAH11

Sources for Ciliary Dyskinesia, Primary, 4

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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