MCID: CLR096
MIFTS: 41

Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Categories: Genetic diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

Name: Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 54 13
Kartagener Syndrome 71 69
Cild1 12 71
Primary Ciliary Dyskinesia 1 with or Without Situs Inversus 12
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 71
Primary Ciliary Dyskinesia Kartagener Type 71
Immotile Cilia Syndrome Kartagener Type 71
Ciliary Dyskinesia, Primary, 1 71
Primary Ciliary Dyskinesia 1 12
Primary Ciliary Dyskinesia 71
Ciliary Motility Disorders 69
Immotile Cilia Syndrome 1 71
Siewert Syndrome 71
Ics1 71
Ktgs 71
Pcd 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
approximately 50% of patients have situs inversus


HPO:

32
ciliary dyskinesia, primary, 1, with or without situs inversus:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

UniProtKB/Swiss-Prot : 71 Ciliary dyskinesia, primary, 1: 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. Kartagener syndrome: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).

MalaCards based summary : Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus, also known as kartagener syndrome, is related to primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia and primary ciliary dyskinesia, and has symptoms including headache, absent frontal sinuses and pneumonia. An important gene associated with Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus is DNAI1 (Dynein Axonemal Intermediate Chain 1). The drugs Pharmaceutical Solutions and Menthol have been mentioned in the context of this disorder. Affiliated tissues include Primitive Streak, lung and liver, and related phenotypes are craniofacial and respiratory system

OMIM : 54
Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). (244400)

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has material basis in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.

Related Diseases for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Diseases related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
id Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia 12.0
2 primary ciliary dyskinesia 11.7
3 paraneoplastic cerebellar degeneration 11.5
4 hyperphenylalaninemia due to dehydratase deficiency 10.9
5 kartagener syndrome 10.8
6 ciliary dyskinesia, primary, 35 10.7
7 ciliary dyskinesia, primary, 17 10.7
8 ciliary dyskinesia, primary, 15 10.7
9 ciliary dyskinesia, primary, 36, x-linked 10.7
10 ciliary dyskinesia, primary, 21 10.7
11 ciliary dyskinesia, primary, 14 10.7
12 ciliary dyskinesia, primary, 32 10.7
13 ciliary dyskinesia, primary, 28 10.7
14 ciliary dyskinesia, primary, 34 10.7
15 ciliary dyskinesia, primary, 16 10.7
16 ciliary dyskinesia, primary, 33 10.7
17 muscular dystrophy, rigid spine, 1 10.3 RSPH1 RSPH3 RSPH4A
18 retinitis 9.8
19 bronchiectasis 9.8
20 heterotaxy 9.7
21 hydrocephalus 9.7
22 ataxia 9.7
23 retinitis pigmentosa 9.7
24 thrombosis 9.7
25 cerebellar ataxia 9.7
26 microcephaly 9.7
27 bronchopneumonia 9.7
28 squamous cell carcinoma 9.7
29 protein c deficiency 9.7
30 cerebellar degeneration 9.7
31 subglottis squamous cell carcinoma 9.4 CCDC39 DNAH11 DNAH5 DNAI1 DNAI2 RSPH9
32 x-linked sideroblastic anemia with ataxia 8.9 CCDC114 CCDC39 DNAH11 DNAH5 DNAI1 DNAI2
33 keratoconus 7.5 CCDC114 CCDC151 CCDC39 DNAH11 DNAH5 DNAI1
34 pseudoarthrosis 7.4 CCDC114 CCDC151 CCDC39 DNAH11 DNAH5 DNAH8
35 spastic paraplegia 46, autosomal recessive 7.3 CCDC114 CCDC151 CCDC39 DNAH11 DNAH5 DNAH8

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:



Diseases related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Internal Genitalia Male:
infertility
absent or abnormal dynein arms of sperm and respiratory epithelial cilia by electron microscopy
immotile sperm

Respiratory- Lung:
pneumonia

Cardiovascular- Heart:
dextrocardia

Head And Neck- Nose:
anosmia
rhinitis
nasal polyps

Abdomen- Spleen:
asplenia

Laboratory- Abnormalities:
immotile cilia

Head And Neck- Ears:
conductive deafness
chronic otitis media

Respiratory- Airways:
bronchiectasis
absent or abnormal dynein arms of sperm and respiratory epithelial cilia by electron microscopy

Abdomen:
situs inversus

Neurologic- Central Nervous System:
headaches
communicating hydrocephalus

Head And Neck- Head:
chronic sinusitis
poorly aerated mastoids
absence of frontal sinuses

Head And Neck- Eyes:
corneal abnormalities


Clinical features from OMIM:

244400

Human phenotypes related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 headache 32 HP:0002315
2 absent frontal sinuses 32 HP:0002688
3 pneumonia 32 HP:0002090
4 bronchiectasis 32 HP:0002110
5 anosmia 32 HP:0000458
6 chronic rhinitis 32 HP:0002257
7 asplenia 32 HP:0001746
8 chronic otitis media 32 HP:0000389
9 nasal polyposis 32 HP:0100582
10 chronic sinusitis 32 HP:0011109
11 immotile cilia 32 HP:0012263
12 sinusitis 32 HP:0000246
13 communicating hydrocephalus 32 HP:0001334
14 male infertility 32 HP:0003251
15 ciliary dyskinesia 32 HP:0012265
16 conductive hearing impairment 32 HP:0000405
17 situs inversus totalis 32 HP:0001696
18 abnormality of the cornea 32 HP:0000481
19 abnormal respiratory motile cilium morphology 32 HP:0005938

MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 CCDC39 DNAH11 DNAH5 DNAI1 DRC1 HYDIN
2 respiratory system MP:0005388 9.28 CCDC151 CCDC39 DNAH11 DNAH5 DNAI1 DNAI2

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Drugs for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2
2
Menthol Approved 2216-51-5 16666
3
Nitric Oxide Approved 10102-43-9 145068
4 Anti-Asthmatic Agents
5 Antioxidants
6 Autonomic Agents
7 Bronchodilator Agents
8 Endothelium-Dependent Relaxing Factors
9 Neurotransmitter Agents
10 Peripheral Nervous System Agents
11 Protective Agents
12 Respiratory System Agents
13 Vasodilator Agents
14 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Recruiting NCT02871778 Phase 2 VX-371;Hypertonic Saline;Placebo (0.17% saline);Ivacaftor
2 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Unknown status NCT01929356
3 Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
4 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
5 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
6 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
7 MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03279965

Search NIH Clinical Center for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Genetic Tests for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Anatomical Context for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

39
Lung, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:
id Tissue Anatomical CompartmentCell Relevance
1 Primitive Streak Primitive Streak Affected by disease

Publications for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Variations for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

71
id Symbol AA change Variation ID SNP ID
1 DNAI1 p.Gly515Ser VAR_016775 rs79833450

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

6 (show top 50) (show all 156)
id Gene Variation Type Significance SNP ID Assembly Location
1 DNAAF1 NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh37 Chromosome 16, 84203783: 84203783
2 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh37 Chromosome 16, 84188353: 84188353
3 RSPH4A NM_001010892.2(RSPH4A): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs118204041 GRCh37 Chromosome 6, 116938246: 116938246
4 RSPH4A NM_001010892.2(RSPH4A): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs118204042 GRCh37 Chromosome 6, 116938111: 116938111
5 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh37 Chromosome 14, 50101845: 50101845
6 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh37 Chromosome 17, 72283113: 72283113
7 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh37 Chromosome 9, 34459053: 34459053
8 DNAI1 NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs) insertion Pathogenic rs606231164 GRCh38 Chromosome 9, 34489343: 34489344
9 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs79833450 GRCh37 Chromosome 9, 34513163: 34513163
10 DNAI1 NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) deletion Pathogenic rs606231165 GRCh38 Chromosome 9, 34514482: 34514493
11 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh37 Chromosome 14, 74156135: 74156135
12 CCDC39 NM_181426.1(CCDC39): c.357+1G> C single nucleotide variant Pathogenic rs397515392 GRCh37 Chromosome 3, 180379648: 180379648
13 CCDC40 NM_017950.3(CCDC40): c.248delC (p.Ala83Valfs) deletion Pathogenic rs397515393 GRCh37 Chromosome 17, 78013765: 78013765
14 DNAAF3 NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro) single nucleotide variant Pathogenic rs387907151 GRCh37 Chromosome 19, 55677272: 55677272
15 DNAAF3 NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907152 GRCh37 Chromosome 19, 55676795: 55676795
16 DNAAF3 NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs) duplication Pathogenic rs397515395 GRCh37 Chromosome 19, 55673053: 55673053
17 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh37 Chromosome 17, 42979839: 42979839
18 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic rs145457535 GRCh37 Chromosome 17, 42979917: 42979917
19 DNAH11 NM_001277115.1(DNAH11): c.8698C> T (p.Arg2900Ter) single nucleotide variant Pathogenic rs368260932 GRCh37 Chromosome 7, 21789320: 21789320
20 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh37 Chromosome 19, 48807210: 48807210
21 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh37 Chromosome 16, 71022036: 71022036
22 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh37 Chromosome 16, 71171175: 71171175
23 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh37 Chromosome 2, 26677651: 26677651
24 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh37 Chromosome 2, 26644264: 26644264
25 DNAH5 NM_001369.2(DNAH5): c.10815delT (p.Pro3606Hisfs) deletion Pathogenic rs397515540 GRCh37 Chromosome 5, 13753399: 13753399
26 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Pathogenic rs376252276 GRCh37 Chromosome 9, 34513110: 34513110
27 DNAI1 NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del) single nucleotide variant Pathogenic rs397515563 GRCh37 Chromosome 9, 34517466: 34517466
28 DNAI2 NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del) single nucleotide variant Pathogenic rs397515565 GRCh37 Chromosome 17, 72306303: 72306303
29 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh37 Chromosome 3, 50382964: 50382964
30 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh37 Chromosome 10, 28151382: 28151382
31 RSPH1 NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs138320978 GRCh37 Chromosome 21, 43913159: 43913159
32 RSPH1 NM_080860.3(RSPH1): c.366-3C> A single nucleotide variant Pathogenic rs587777058 GRCh37 Chromosome 21, 43905917: 43905917
33 RSPH1 NM_080860.3(RSPH1): c.407_410delAGTA (p.Lys136Metfs) deletion Pathogenic rs587777059 GRCh37 Chromosome 21, 43905870: 43905873
34 RSPH1 NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10) single nucleotide variant Pathogenic rs151107532 GRCh37 Chromosome 21, 43906573: 43906573
35 RSPH9 NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del) deletion Pathogenic rs397515340 GRCh37 Chromosome 6, 43638659: 43638661
36 DNAAF4 NM_130810.3(DNAAF4): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs397515621 GRCh37 Chromosome 15, 55731755: 55731755
37 SPAG1 NC_000008.11: g.100151617_100163589del11973 deletion Pathogenic GRCh38 Chromosome 8, 100151617: 100163589
38 SPAG1 NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter) single nucleotide variant Pathogenic rs201740530 GRCh37 Chromosome 8, 101245664: 101245664
39 CCDC65 NM_033124.4(CCDC65): c.877_878delAT (p.Ile293Profs) deletion Pathogenic/Likely pathogenic rs863223325 GRCh37 Chromosome 12, 49312537: 49312538
40 C21orf59 NM_021254.3(C21orf59): c.292C> T (p.Arg98Ter) single nucleotide variant Pathogenic rs143740376 GRCh37 Chromosome 21, 33982163: 33982163
41 C21orf59 NM_021254.3(C21orf59): c.792_795delTTTA (p.Tyr264Terfs) deletion Pathogenic rs398122401 GRCh37 Chromosome 21, 33974251: 33974254
42 RSPH4A NM_001010892.2(RSPH4A): c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8) deletion Pathogenic rs869320683 GRCh37 Chromosome 6, 116944168: 116944171
43 CCNO NM_021147.4(CCNO): c.248_252dupTGCCC (p.Gly85Cysfs) duplication Pathogenic rs587777498 GRCh38 Chromosome 5, 55233272: 55233276
44 CCNO NM_021147.4(CCNO): c.258_262dupGGCCC (p.Gln88Argfs) duplication Pathogenic rs587777499 GRCh38 Chromosome 5, 55233262: 55233266
45 CCNO NM_021147.4(CCNO): c.926delC (p.Pro309Argfs) deletion Pathogenic rs587777500 GRCh38 Chromosome 5, 55231502: 55231502
46 CCNO NM_021147.4(CCNO): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs587777501 GRCh38 Chromosome 5, 55231467: 55231467
47 CCNO NM_021147.4(CCNO): c.263_267dupAGCCC (p.Val90Serfs) duplication Pathogenic rs587777502 GRCh38 Chromosome 5, 55233257: 55233261
48 CCNO NM_021147.4(CCNO): c.481_482delCT (p.Leu161Glyfs) deletion Pathogenic rs587777503 GRCh38 Chromosome 5, 55232446: 55232447
49 CCDC151 NM_145045.4(CCDC151): c.925G> T (p.Glu309Ter) single nucleotide variant Pathogenic rs587777779 GRCh38 Chromosome 19, 11426182: 11426182
50 CCDC151 NM_145045.4(CCDC151): c.1256C> A (p.Ser419Ter) single nucleotide variant Pathogenic rs587777780 GRCh37 Chromosome 19, 11533390: 11533390

Expression for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus.

Pathways for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

GO Terms for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

Cellular components related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.89 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2
2 cilium GO:0005929 9.83 CCDC114 CCDC151 CCDC39 DNAH11 DNAH5 DNAH8
3 dynein complex GO:0030286 9.77 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2
4 motile cilium GO:0031514 9.73 DNAH11 RSPH1 RSPH4A RSPH9
5 sperm flagellum GO:0036126 9.65 DNAI2 RPGR RSPH1
6 axonemal dynein complex GO:0005858 9.58 DNAH5 DNAH8 DNAI2
7 outer dynein arm GO:0036157 9.56 CCDC114 DNAH5 DNAI1 DNAI2
8 axoneme GO:0005930 9.23 CCDC114 CCDC151 CCDC39 DNAH5 DNAI2 DRC1
9 cytoplasm GO:0005737 10.36 CCDC151 CCDC39 DNAH11 DNAH5 DNAH8 DNAI1
10 cytoskeleton GO:0005856 10.13 CCDC151 CCDC39 DNAH11 DNAH5 DNAH8 DNAI1
11 cell projection GO:0042995 10.06 CCDC114 CCDC151 CCDC39 DNAH11 DNAH5 DNAH8

Biological processes related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.89 CCDC39 DNAH11 DNAH5 DNAI1 DRC1
2 cilium assembly GO:0060271 9.83 DNAH5 DNAI2 MCIDAS RPGR
3 cell projection organization GO:0030030 9.83 CCDC151 DNAI1 DNAI2 MCIDAS RPGR
4 flagellated sperm motility GO:0030317 9.77 CCDC39 DNAH11 DNAH5 DNAI1 LRRC6
5 microtubule-based movement GO:0007018 9.72 DNAH11 DNAH5 DNAH8
6 determination of left/right symmetry GO:0007368 9.7 CCDC151 CCDC39 DNAH11 DNAH5 DNAI1 DNAI2
7 cilium movement GO:0003341 9.7 CCDC114 CCDC151 CCDC39 DNAH11 DNAH5 DNAI1
8 axoneme assembly GO:0035082 9.65 RSPH1 RSPH4A RSPH9
9 motile cilium assembly GO:0044458 9.65 CCDC39 LRRC6 MCIDAS RSPH9 ZMYND10
10 inner dynein arm assembly GO:0036159 9.63 CCDC39 LRRC6 ZMYND10
11 axonemal dynein complex assembly GO:0070286 9.62 CCDC151 CCDC39 DRC1 SPAG1
12 cilium-dependent cell motility GO:0060285 9.58 CCDC39 DNAH8 DRC1
13 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.54 CCDC39 LRRC6
14 regulation of cilium beat frequency GO:0003356 9.51 CCDC39 DNAH11
15 outer dynein arm assembly GO:0036158 9.17 CCDC114 CCDC151 DNAH5 DNAI1 DNAI2 LRRC6

Molecular functions related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.26 DNAH11 DNAH5 DNAH8 DNAI2
2 motor activity GO:0003774 9.02 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2

Sources for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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