CILD1
MCID: CLR131
MIFTS: 52

Ciliary Dyskinesia, Primary, 1 (CILD1)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 1

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 1:

Name: Ciliary Dyskinesia, Primary, 1 58 76
Cild1 58 12 76
Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 58 13
Kartagener Syndrome 76 74
Pcd 58 76
Primary Ciliary Dyskinesia 1 with or Without Situs Inversus 12
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 76
Primary Ciliary Dyskinesia Kartagener Type 76
Immotile Cilia Syndrome Kartagener Type 76
Dyskinesia, Ciliary, Primary, Type 1 41
Immotile Cilia Syndrome; Ics 58
Primary Ciliary Dyskinesia 1 12
Primary Ciliary Dyskinesia 76
Ciliary Motility Disorders 74
Polynesian Bronchiectasis 58
Immotile Cilia Syndrome 1 76
Immotile Cilia Syndrome 58
Siewert Syndrome 76
Immotile Cilia 30
Ics1 76
Ktgs 76
Ics 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ciliary dyskinesia, primary, 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 1

UniProtKB/Swiss-Prot : 76 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, also known as cild1, is related to primary ciliary dyskinesia and situs inversus, and has symptoms including headache An important gene associated with Ciliary Dyskinesia, Primary, 1 is DNAI1 (Dynein Axonemal Intermediate Chain 1). Affiliated tissues include Primitive Streak, lung and kidney, and related phenotypes are chronic otitis media and sinusitis

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.

OMIM : 58 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)

Related Diseases for Ciliary Dyskinesia, Primary, 1

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, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 450)
# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 32.0 ARMC4 CCDC114 DNAAF2 DNAH1 DNAH5 DNAI1
2 situs inversus 30.3 ARMC4 DNAAF1 DNAH5 DNAI1 DNAI2
3 kartagener syndrome 28.2 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAAF2
4 congenital disorder of glycosylation, type ic 12.5
5 pseudohypoparathyroidism, type ic 12.5
6 neuropathy, hereditary sensory and autonomic, type ic 12.4
7 cutis laxa, autosomal recessive, type ic 12.3
8 glycogen storage disease ic 12.3
9 interstitial cystitis 12.3
10 usher syndrome, type ic 12.2
11 amelogenesis imperfecta, type ic 12.2
12 ciliary dyskinesia, primary, 24 12.1
13 ciliary dyskinesia, primary, 29 12.1
14 isolated focal cortical dysplasia type ic 12.0
15 iridocorneal endothelial syndrome 12.0
16 ciliary dyskinesia, primary, 4 12.0
17 hereditary lymphedema ic 12.0
18 ciliary dyskinesia, primary, 8 12.0
19 alg6-congenital disorder of glycosylation 11.9
20 stromme syndrome 11.9
21 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 11.9
22 paraneoplastic cerebellar degeneration 11.8
23 ciliary dyskinesia with defective radial spokes 11.5
24 premature centromere division 11.5
25 ciliary dyskinesia with excessively long cilia 11.4
26 charcot-marie-tooth disease, demyelinating, type 1c 11.4
27 myasthenic syndrome, congenital, 5 11.4
28 lymphatic malformation 3 11.4
29 cholera 11.3
30 cogan-reese syndrome 11.3
31 dextrocardia with situs inversus 11.3
32 tendinitis 11.3
33 diarrhea 11.3
34 ichthyosis--cheek--eyebrow syndrome 11.3
35 ciliary dyskinesia, primary, 2 11.3
36 ciliary dyskinesia, primary, 3 11.3
37 ciliary dyskinesia, primary, 5 11.3
38 ciliary dyskinesia, primary, 6 11.3
39 ciliary dyskinesia, primary, 7 11.3
40 ciliary dyskinesia, primary, 9 11.3
41 ciliary dyskinesia, primary, 10 11.3
42 ciliary dyskinesia, primary, 11 11.3
43 ciliary dyskinesia, primary, 12 11.3
44 ciliary dyskinesia, primary, 13 11.3
45 ciliary dyskinesia, primary, 18 11.3
46 ciliary dyskinesia, primary, 19 11.3
47 ciliary dyskinesia, primary, 20 11.3
48 heterotaxy, visceral, 1, x-linked 11.2
49 ciliary dyskinesia, primary, 39 11.2
50 hyperphenylalaninemia due to dehydratase deficiency 11.2

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 1:



Diseases related to Ciliary Dyskinesia, Primary, 1

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 1

Human phenotypes related to Ciliary Dyskinesia, Primary, 1:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 33 HP:0000389
2 sinusitis 33 HP:0000246
3 conductive hearing impairment 33 HP:0000405
4 headache 33 HP:0002315
5 nasal polyposis 33 HP:0100582
6 situs inversus totalis 33 HP:0001696
7 asplenia 33 HP:0001746
8 male infertility 33 HP:0003251
9 anosmia 33 HP:0000458
10 bronchiectasis 33 HP:0002110
11 pneumonia 33 HP:0002090
12 communicating hydrocephalus 33 HP:0001334
13 chronic rhinitis 33 HP:0002257
14 abnormal respiratory motile cilium morphology 33 HP:0005938
15 chronic sinusitis 33 HP:0011109
16 ciliary dyskinesia 33 HP:0012265
17 absent frontal sinuses 33 HP:0002688
18 immotile cilia 33 HP:0012263
19 abnormal cornea morphology 33 HP:0000481

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
chronic otitis media
conductive deafness

Abdomen Spleen:
asplenia

Head And Neck Nose:
anosmia
rhinitis
nasal polyps

Respiratory Lung:
pneumonia

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

Laboratory Abnormalities:
immotile cilia

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

Cardiovascular Heart:
dextrocardia

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

Neurologic Central Nervous System:
communicating hydrocephalus
headaches

Abdomen:
situs inversus

Head And Neck Eyes:
corneal abnormalities

Clinical features from OMIM:

244400

UMLS symptoms related to Ciliary Dyskinesia, Primary, 1:


headache

MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 ARMC4 CCDC151 DNAAF2 DNAAF3 DNAH5 DNAI1
2 cellular MP:0005384 9.85 ARMC4 CCDC151 DNAAF2 DNAAF3 DNAH5 DNAI1
3 growth/size/body region MP:0005378 9.7 ARMC4 CCDC151 DNAAF2 DNAAF3 DNAH5 DNAI1
4 respiratory system MP:0005388 9.4 ARMC4 CCDC151 DNAAF2 DNAAF3 DNAH1 DNAH5

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 1

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 1

Genetic Tests for Ciliary Dyskinesia, Primary, 1

Genetic tests related to Ciliary Dyskinesia, Primary, 1:

# Genetic test Affiliating Genes
1 Immotile Cilia 30

Anatomical Context for Ciliary Dyskinesia, Primary, 1

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 1:

42
Lung, Kidney, Cervix, Pancreas
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:
# Tissue Anatomical CompartmentCell Relevance
1 Primitive Streak Primitive Streak Affected by disease

Publications for Ciliary Dyskinesia, Primary, 1

Articles related to Ciliary Dyskinesia, Primary, 1:

(show top 50) (show all 86)
# Title Authors Year
1
Retinal pigment epithelium changes in Kartagener syndrome. ( 29511746 )
2018
2
Kartagener syndrome. ( 30351433 )
2018
3
Kartagener syndrome complicated by immunoglobulin A nephropathy. ( 30573994 )
2018
4
Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult. ( 28638261 )
2017
5
A Full-Blown Case of Bronchiectasis: Kartagener Syndrome Without Infertility Diagnosed Later in Life. ( 29152435 )
2017
6
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. ( 28952366 )
2017
7
Kartagener Syndrome. ( 28402566 )
2017
8
Ciliary Dysfunction (Kartagener Syndrome, Primary Ciliary Dyskinesia) ( 28846277 )
2017
9
Renal Amyloidosis Associated With Kartagener Syndrome in a Dog. ( 28992906 )
2017
10
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. ( 27988889 )
2016
11
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. ( 27746084 )
2016
12
A case of Kartagener syndrome with rhinolalia clausa. ( 27375831 )
2016
13
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. ( 26976528 )
2016
14
A case report of kartagener syndrome. ( 27728632 )
2016
15
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. ( 26960394 )
2016
16
A case of Kartagener syndrome. ( 27728621 )
2016
17
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. ( 25576715 )
2015
18
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. ( 26284775 )
2015
19
Kartagener syndrome. ( 25633235 )
2015
20
Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia. ( 27366497 )
2015
21
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. ( 25956262 )
2015
22
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. ( 26250371 )
2015
23
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. ( 26227396 )
2015
24
Kartagener syndrome: a not so rare phenomenon. ( 25672196 )
2014
25
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 24533546 )
2014
26
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. ( 25367485 )
2014
27
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. ( 25178347 )
2014
28
Re: Kartagener syndrome with focal segmental glomerulosclerosis. ( 25001147 )
2014
29
Left video-assisted thoracoscopic surgery esophagectomy in a patient with situs inversus totalis and Kartagener syndrome. ( 25087796 )
2014
30
Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome. ( 25309609 )
2014
31
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. ( 24718008 )
2014
32
Kartagener syndrome with focal segmental glomerulosclerosis. ( 24241099 )
2013
33
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 23563507 )
2013
34
Right bochdalek hernia associated with kartagener syndrome: developmental and clinical observations. ( 25755941 )
2013
35
An unusual regression of the symptoms of Kartagener syndrome. ( 22551925 )
2013
36
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. ( 25207108 )
2013
37
Kartagener syndrome. ( 21372103 )
2012
38
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. ( 23288129 )
2012
39
Pulmonary arterial hypertension in a Kartagener syndrome patient: treatment with beraprost sodium. ( 22104985 )
2012
40
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. ( 22595222 )
2012
41
An unusual case of Kartagener syndrome. ( 21497979 )
2012
42
Kartagener syndrome. ( 20562592 )
2011
43
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. ( 21718985 )
2011
44
Bronchiolitis as a feature of kartagener syndrome: a case report. ( 23169026 )
2011
45
Kartagener syndrome. ( 21403791 )
2011
46
Diagnosis: Kartagener syndrome. ( 20697168 )
2010
47
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. ( 20868986 )
2010
48
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. ( 20550487 )
2010
49
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. ( 20796272 )
2010
50
Kartagener syndrome: a rare genetic disorder. ( 19529061 )
2009

Variations for Ciliary Dyskinesia, Primary, 1

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 1:

76
# Symbol AA change Variation ID SNP ID
1 DNAI1 p.Gly515Ser VAR_016775 rs79833450

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 1:

6 (show top 50) (show all 162)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH8 NM_001206927.1(DNAH8): c.2419C> T (p.Arg807Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs567050969 GRCh38 Chromosome 6, 38786788: 38786788
2 DNAH8 NM_001206927.1(DNAH8): c.2419C> T (p.Arg807Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs567050969 GRCh37 Chromosome 6, 38754564: 38754564
3 DNAI1 NM_012144.3(DNAI1): c.378A> G (p.Glu126=) single nucleotide variant Benign/Likely benign rs3818577 GRCh37 Chromosome 9, 34489437: 34489437
4 DNAI1 NM_012144.3(DNAI1): c.378A> G (p.Glu126=) single nucleotide variant Benign/Likely benign rs3818577 GRCh38 Chromosome 9, 34489439: 34489439
5 DNAI1 NM_012144.3(DNAI1): c.1460T> G (p.Val487Gly) single nucleotide variant Benign/Likely benign rs11999454 GRCh37 Chromosome 9, 34512393: 34512393
6 DNAI1 NM_012144.3(DNAI1): c.1460T> G (p.Val487Gly) single nucleotide variant Benign/Likely benign rs11999454 GRCh38 Chromosome 9, 34512395: 34512395
7 DNAI1 NM_012144.3(DNAI1): c.1003G> A (p.Val335Ile) single nucleotide variant Benign/Likely benign rs11793196 GRCh37 Chromosome 9, 34500821: 34500821
8 DNAI1 NM_012144.3(DNAI1): c.1003G> A (p.Val335Ile) single nucleotide variant Benign/Likely benign rs11793196 GRCh38 Chromosome 9, 34500823: 34500823
9 DNAI1 NM_012144.3(DNAI1): c.1825A> T (p.Ile609Leu) single nucleotide variant Uncertain significance rs727502978 GRCh37 Chromosome 9, 34517289: 34517289
10 DNAI1 NM_012144.3(DNAI1): c.1825A> T (p.Ile609Leu) single nucleotide variant Uncertain significance rs727502978 GRCh38 Chromosome 9, 34517291: 34517291
11 CCDC40 NM_017950.3(CCDC40): c.2824_2825insCTGT (p.Arg942Thrfs) insertion Pathogenic rs587778819 GRCh37 Chromosome 17, 78063675: 78063676
12 CCDC40 NM_017950.3(CCDC40): c.2824_2825insCTGT (p.Arg942Thrfs) insertion Pathogenic rs587778819 GRCh38 Chromosome 17, 80089876: 80089877
13 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh38 Chromosome 14, 49633936: 49633951
14 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh37 Chromosome 14, 50100654: 50100669
15 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh37 Chromosome 3, 52387629: 52387629
16 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh38 Chromosome 3, 52353613: 52353613
17 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh37 Chromosome 5, 13865784: 13865784
18 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh38 Chromosome 5, 13865675: 13865675
19 MCIDAS NM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His) single nucleotide variant Pathogenic rs797045152 GRCh37 Chromosome 5, 54516210: 54516210
20 MCIDAS NM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His) single nucleotide variant Pathogenic rs797045152 GRCh38 Chromosome 5, 55220382: 55220382
21 MCIDAS NM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp) single nucleotide variant Pathogenic rs797045151 GRCh37 Chromosome 5, 54516255: 54516255
22 MCIDAS NM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp) single nucleotide variant Pathogenic rs797045151 GRCh38 Chromosome 5, 55220427: 55220427
23 MCIDAS NM_001190787.1(MCIDAS): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs777031813 GRCh37 Chromosome 5, 54518169: 54518169
24 MCIDAS NM_001190787.1(MCIDAS): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs777031813 GRCh38 Chromosome 5, 55222341: 55222341
25 CCNO NM_021147.4(CCNO): c.716A> G (p.His239Arg) single nucleotide variant Pathogenic rs797045150 GRCh37 Chromosome 5, 54527540: 54527540
26 CCNO NM_021147.4(CCNO): c.716A> G (p.His239Arg) single nucleotide variant Pathogenic rs797045150 GRCh38 Chromosome 5, 55231712: 55231712
27 RSPH4A NM_001010892.2(RSPH4A): c.166dupC (p.Arg56Profs) duplication Pathogenic rs797045147 GRCh37 Chromosome 6, 116937952: 116937952
28 RSPH4A NM_001010892.2(RSPH4A): c.166dupC (p.Arg56Profs) duplication Pathogenic rs797045147 GRCh38 Chromosome 6, 116616789: 116616789
29 RSPH3 NM_031924.5(RSPH3): c.631-2A> G single nucleotide variant Pathogenic rs142800871 GRCh37 Chromosome 6, 159407455: 159407455
30 RSPH3 NM_031924.5(RSPH3): c.631-2A> G single nucleotide variant Pathogenic rs142800871 GRCh38 Chromosome 6, 158986423: 158986423
31 SPAG1 NM_172218.2(SPAG1): c.902_906delAAGTA (p.Lys301Thrfs) deletion Pathogenic rs797045149 GRCh37 Chromosome 8, 101203687: 101203691
32 SPAG1 NM_172218.2(SPAG1): c.902_906delAAGTA (p.Lys301Thrfs) deletion Pathogenic rs797045149 GRCh38 Chromosome 8, 100191459: 100191463
33 LRRC6 NM_012472.5(LRRC6): c.630delG (p.Trp210Cysfs) deletion Pathogenic rs760123202 GRCh37 Chromosome 8, 133645009: 133645009
34 LRRC6 NM_012472.5(LRRC6): c.630delG (p.Trp210Cysfs) deletion Pathogenic rs760123202 GRCh38 Chromosome 8, 132632763: 132632763
35 ARMC4 NM_018076.4(ARMC4): c.1669G> T (p.Glu557Ter) single nucleotide variant Pathogenic rs145742175 GRCh37 Chromosome 10, 28233225: 28233225
36 ARMC4 NM_018076.4(ARMC4): c.1669G> T (p.Glu557Ter) single nucleotide variant Pathogenic rs145742175 GRCh38 Chromosome 10, 27944296: 27944296
37 DNAAF2 NM_018139.2(DNAAF2): c.31delG (p.Glu11Argfs) deletion Pathogenic rs797045146 GRCh38 Chromosome 14, 49635119: 49635119
38 DNAAF2 NM_018139.2(DNAAF2): c.31delG (p.Glu11Argfs) deletion Pathogenic rs797045146 GRCh37 Chromosome 14, 50101837: 50101837
39 CFAP298 NM_021254.3(CFAP298): c.735C> G (p.Tyr245Ter) single nucleotide variant Pathogenic rs202094637 GRCh38 Chromosome 21, 32602299: 32602299
40 CFAP298 NM_021254.3(CFAP298): c.735C> G (p.Tyr245Ter) single nucleotide variant Pathogenic rs202094637 GRCh37 Chromosome 21, 33974609: 33974609
41 RSPH1 NM_080860.3(RSPH1): c.727+5G> A (p.Ala244ValfsTer22) single nucleotide variant Likely pathogenic rs200382776 GRCh37 Chromosome 21, 43897396: 43897396
42 RSPH1 NM_080860.3(RSPH1): c.727+5G> A (p.Ala244ValfsTer22) single nucleotide variant Likely pathogenic rs200382776 GRCh38 Chromosome 21, 42477286: 42477286
43 RSPH1 NM_080860.3(RSPH1): c.366G> A (p.Arg122=) single nucleotide variant Pathogenic rs797045148 GRCh37 Chromosome 21, 43905914: 43905914
44 RSPH1 NM_080860.3(RSPH1): c.366G> A (p.Arg122=) single nucleotide variant Pathogenic rs797045148 GRCh38 Chromosome 21, 42485804: 42485804
45 DNAI1 NM_012144.3(DNAI1): c.1948C> T (p.Arg650Cys) single nucleotide variant Uncertain significance rs140820295 GRCh37 Chromosome 9, 34517412: 34517412
46 DNAI1 NM_012144.3(DNAI1): c.1948C> T (p.Arg650Cys) single nucleotide variant Uncertain significance rs140820295 GRCh38 Chromosome 9, 34517414: 34517414
47 DNAI1 NM_012144.3(DNAI1): c.862C> T (p.Arg288Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202213517 GRCh37 Chromosome 9, 34497158: 34497158
48 DNAI1 NM_012144.3(DNAI1): c.862C> T (p.Arg288Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202213517 GRCh38 Chromosome 9, 34497160: 34497160
49 DNAAF1 NM_178452.5(DNAAF1): c.1349dup (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh37 Chromosome 16, 84203783: 84203783
50 DNAAF1 NM_178452.5(DNAAF1): c.1349dup (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh38 Chromosome 16, 84170177: 84170177

Expression for Ciliary Dyskinesia, Primary, 1

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 1.

Pathways for Ciliary Dyskinesia, Primary, 1

GO Terms for Ciliary Dyskinesia, Primary, 1

Cellular components related to Ciliary Dyskinesia, Primary, 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.88 DNAH1 DNAH5 DNAI1 DNAI2 DNAL1
2 motile cilium GO:0031514 9.88 CCDC103 DNAH1 DRC1 LRRC6 RSPH1 RSPH9
3 cilium GO:0005929 9.83 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH1
4 dynein complex GO:0030286 9.77 DNAH1 DNAH5 DNAI1 DNAI2 DNAL1
5 sperm flagellum GO:0036126 9.67 DNAH1 DNAI2 RSPH1
6 outer dynein arm GO:0036157 9.65 CCDC114 DNAH5 DNAI1 DNAI2 DNAL1
7 axonemal dynein complex GO:0005858 9.63 DNAH1 DNAH5 DNAI2
8 9+2 motile cilium GO:0097729 9.51 DNAH5 RSPH9
9 axoneme GO:0005930 9.32 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH1
10 cytoplasm GO:0005737 10.36 ARMC4 CCDC103 CCDC151 DNAAF1 DNAAF2 DNAAF3
11 cytoskeleton GO:0005856 10.1 ARMC4 CCDC151 DNAAF1 DNAH1 DNAH5 DNAI1
12 cell projection GO:0042995 10.06 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH1

Biological processes related to Ciliary Dyskinesia, Primary, 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.95 ARMC4 CCDC103 CCDC151 DNAAF3 DNAI1 DNAI2
2 cilium assembly GO:0060271 9.88 DNAAF1 DNAH5 DNAI2 LRRC6 MCIDAS
3 determination of left/right symmetry GO:0007368 9.85 ARMC4 CCDC151 DNAH5 DNAI1 DNAI2 DRC1
4 microtubule-based movement GO:0007018 9.81 DNAH1 DNAH5 DNAI1 DNAI2
5 flagellated sperm motility GO:0030317 9.76 DNAH1 DNAH5 DNAI1 LRRC6
6 motile cilium assembly GO:0044458 9.73 DNAAF1 DNAAF3 LRRC6 MCIDAS RSPH9 ZMYND10
7 cilium movement GO:0003341 9.73 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH1
8 heart development GO:0007507 9.72 DNAH5 DNAI1 DRC1
9 inner dynein arm assembly GO:0036159 9.72 CCDC103 DNAAF1 DNAH1 LRRC6 ZMYND10
10 cilium-dependent cell motility GO:0060285 9.67 DNAAF2 DNAH1 DRC1
11 axonemal dynein complex assembly GO:0070286 9.63 CCDC103 CCDC151 DNAAF1 DNAAF2 DNAAF3 DRC1
12 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.61 CCDC103 DNAAF1 LRRC6
13 axoneme assembly GO:0035082 9.58 RSPH1 RSPH9
14 epithelial cilium movement GO:0003351 9.58 DNAH1 DNAI1
15 cilium movement involved in cell motility GO:0060294 9.56 DNAH1 RSPH9
16 determination of digestive tract left/right asymmetry GO:0071907 9.54 CCDC103 DNAAF1
17 regulation of cilium beat frequency GO:0003356 9.52 ARMC4 DNAAF1
18 outer dynein arm assembly GO:0036158 9.36 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH5
19 ventricular system development GO:0021591 9.27 HYDIN

Molecular functions related to Ciliary Dyskinesia, Primary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.43 DNAH1 DNAH5
2 microtubule motor activity GO:0003777 9.43 DNAH1 DNAH5 DNAI2
3 dynein light intermediate chain binding GO:0051959 9.4 DNAH1 DNAH5
4 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.37 DNAI1 DNAI2
5 motor activity GO:0003774 9.35 DNAH1 DNAH5 DNAI1 DNAI2 DNAL1
6 dynein heavy chain binding GO:0045504 9.33 DNAI1 DNAI2 DNAL1
7 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DNAH1 DNAH5
8 dynein light chain binding GO:0045503 8.92 DNAH1 DNAH5 DNAI1 DNAI2

Sources for Ciliary Dyskinesia, Primary, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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