CILD1
MCID: CLR131
MIFTS: 57

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 57 75
Cild1 57 12 75
Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 57 13
Kartagener Syndrome 75 73
Pcd 57 75
Primary Ciliary Dyskinesia 1 with or Without Situs Inversus 12
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 75
Primary Ciliary Dyskinesia Kartagener Type 75
Immotile Cilia Syndrome Kartagener Type 75
Dyskinesia, Ciliary, Primary, Type 1 40
Immotile Cilia Syndrome; Ics 57
Primary Ciliary Dyskinesia 1 12
Primary Ciliary Dyskinesia 75
Ciliary Motility Disorders 73
Polynesian Bronchiectasis 57
Immotile Cilia Syndrome 1 75
Immotile Cilia Syndrome 57
Siewert Syndrome 75
Immotile Cilia 29
Ics1 75
Ktgs 75
Ics 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ciliary dyskinesia, primary, 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 1

UniProtKB/Swiss-Prot : 75 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 testes, 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 : 57 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, 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 371)
# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 32.5 CCDC114 DNAH1 DNAH5 DNAI1 DNAI2 RSPH1
2 situs inversus 30.6 CCDC40 DNAH5 DNAI1 DNAI2
3 bronchiectasis 30.2 CCDC40 DNAH5 DNAI1
4 kartagener syndrome 29.4 CCDC103 CCDC114 CCDC151 CCDC40 CCNO DNAAF3
5 congenital disorder of glycosylation, type ic 12.5
6 pseudohypoparathyroidism, type ic 12.5
7 cutis laxa, autosomal recessive, type ic 12.3
8 glycogen storage disease ic 12.3
9 interstitial cystitis 12.3
10 neuropathy, hereditary sensory and autonomic, type ic 12.2
11 usher syndrome, type ic 12.2
12 amelogenesis imperfecta, type ic 12.2
13 lymphedema, hereditary, ic 12.2
14 ciliary dyskinesia, primary, 24 12.1
15 ciliary dyskinesia, primary, 29 12.1
16 iridocorneal endothelial syndrome 12.0
17 isolated focal cortical dysplasia type ic 12.0
18 ciliary dyskinesia, primary, 4 12.0
19 ciliary dyskinesia, primary, 8 11.9
20 alg6-congenital disorder of glycosylation 11.9
21 stromme syndrome 11.9
22 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 11.9
23 paraneoplastic cerebellar degeneration 11.8
24 ciliary dyskinesia with defective radial spokes 11.5
25 premature centromere division 11.5
26 ciliary dyskinesia with excessively long cilia 11.4
27 charcot-marie-tooth disease, demyelinating, type 1c 11.4
28 myasthenic syndrome, congenital, 5 11.4
29 cogan-reese syndrome 11.3
30 cholera 11.3
31 ichthyosis--cheek--eyebrow syndrome 11.3
32 diarrhea 11.3
33 dextrocardia with situs inversus 11.3
34 ciliary dyskinesia, primary, 2 11.2
35 ciliary dyskinesia, primary, 3 11.2
36 ciliary dyskinesia, primary, 5 11.2
37 ciliary dyskinesia, primary, 6 11.2
38 ciliary dyskinesia, primary, 7 11.2
39 ciliary dyskinesia, primary, 9 11.2
40 ciliary dyskinesia, primary, 10 11.2
41 ciliary dyskinesia, primary, 11 11.2
42 ciliary dyskinesia, primary, 12 11.2
43 ciliary dyskinesia, primary, 13 11.2
44 ciliary dyskinesia, primary, 18 11.2
45 ciliary dyskinesia, primary, 19 11.2
46 ciliary dyskinesia, primary, 20 11.2
47 heterotaxy, visceral, 1, x-linked 11.2
48 hyperphenylalaninemia due to dehydratase deficiency 11.2
49 corneal endothelial dystrophy 11.2
50 convulsions, familial infantile, with paroxysmal choreoathetosis 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ciliary Dyskinesia, Primary, 1:

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

UMLS symptoms related to Ciliary Dyskinesia, Primary, 1:


headache

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.7 CCDC151 CCDC40 CCNO DNAAF3 DNAH5 DNAI1
2 respiratory system MP:0005388 9.4 CCDC151 CCDC40 CCNO 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 29

Anatomical Context for Ciliary Dyskinesia, Primary, 1

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

41
Lung, Testes, Heart, Kidney, Bone, Endothelial, B Cells
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 85)
# Title Authors Year
1
Retinal pigment epithelium changes in Kartagener syndrome. ( 29511746 )
2018
2
Kartagener syndrome. ( 30351433 )
2018
3
Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult. ( 28638261 )
2017
4
A Full-Blown Case of Bronchiectasis: Kartagener Syndrome Without Infertility Diagnosed Later in Life. ( 29152435 )
2017
5
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. ( 28952366 )
2017
6
Kartagener Syndrome. ( 28402566 )
2017
7
Ciliary Dysfunction (Kartagener Syndrome, Primary Ciliary Dyskinesia) ( 28846277 )
2017
8
Renal Amyloidosis Associated With Kartagener Syndrome in a Dog. ( 28992906 )
2017
9
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. ( 27988889 )
2016
10
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. ( 27746084 )
2016
11
A case of Kartagener syndrome with rhinolalia clausa. ( 27375831 )
2016
12
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. ( 26976528 )
2016
13
A case report of kartagener syndrome. ( 27728632 )
2016
14
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. ( 26960394 )
2016
15
A case of Kartagener syndrome. ( 27728621 )
2016
16
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. ( 25576715 )
2015
17
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. ( 26284775 )
2015
18
Kartagener syndrome. ( 25633235 )
2015
19
Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia. ( 27366497 )
2015
20
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. ( 25956262 )
2015
21
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. ( 26250371 )
2015
22
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. ( 26227396 )
2015
23
Kartagener syndrome: a not so rare phenomenon. ( 25672196 )
2014
24
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 24533546 )
2014
25
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. ( 25367485 )
2014
26
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. ( 25178347 )
2014
27
Re: Kartagener syndrome with focal segmental glomerulosclerosis. ( 25001147 )
2014
28
Left video-assisted thoracoscopic surgery esophagectomy in a patient with situs inversus totalis and Kartagener syndrome. ( 25087796 )
2014
29
Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome. ( 25309609 )
2014
30
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. ( 24718008 )
2014
31
Kartagener syndrome with focal segmental glomerulosclerosis. ( 24241099 )
2013
32
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 23563507 )
2013
33
Right bochdalek hernia associated with kartagener syndrome: developmental and clinical observations. ( 25755941 )
2013
34
An unusual regression of the symptoms of Kartagener syndrome. ( 22551925 )
2013
35
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. ( 25207108 )
2013
36
Kartagener syndrome. ( 21372103 )
2012
37
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. ( 23288129 )
2012
38
Pulmonary arterial hypertension in a Kartagener syndrome patient: treatment with beraprost sodium. ( 22104985 )
2012
39
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. ( 22595222 )
2012
40
An unusual case of Kartagener syndrome. ( 21497979 )
2012
41
Kartagener syndrome. ( 20562592 )
2011
42
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. ( 21718985 )
2011
43
Bronchiolitis as a feature of kartagener syndrome: a case report. ( 23169026 )
2011
44
Kartagener syndrome. ( 21403791 )
2011
45
Diagnosis: Kartagener syndrome. ( 20697168 )
2010
46
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. ( 20868986 )
2010
47
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. ( 20550487 )
2010
48
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. ( 20796272 )
2010
49
Kartagener syndrome: a rare genetic disorder. ( 19529061 )
2009
50
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. ( 19606528 )
2009

Variations for Ciliary Dyskinesia, Primary, 1

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

75
# 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 160)
# 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.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh38 Chromosome 16, 84170177: 84170177
3 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh37 Chromosome 16, 84188353: 84188353
4 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh38 Chromosome 16, 84154748: 84154748
5 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh37 Chromosome 14, 50101845: 50101845
6 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh38 Chromosome 14, 49635127: 49635127
7 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh37 Chromosome 17, 72283113: 72283113
8 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh38 Chromosome 17, 74286974: 74286974
9 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh37 Chromosome 9, 34459053: 34459053
10 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh38 Chromosome 9, 34459055: 34459055
11 DNAI1 NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs) insertion Pathogenic rs606231164 GRCh38 Chromosome 9, 34489343: 34489344
12 DNAI1 NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs) insertion Pathogenic rs606231164 GRCh37 Chromosome 9, 34489341: 34489342
13 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Likely pathogenic rs79833450 GRCh37 Chromosome 9, 34513163: 34513163
14 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Likely pathogenic rs79833450 GRCh38 Chromosome 9, 34513165: 34513165
15 DNAI1 NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) deletion Pathogenic rs606231165 GRCh38 Chromosome 9, 34514482: 34514493
16 DNAI1 NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) deletion Pathogenic rs606231165 GRCh37 Chromosome 9, 34514480: 34514491
17 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh37 Chromosome 14, 74156135: 74156135
18 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh38 Chromosome 14, 73689432: 73689432
19 DNAAF3 NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro) single nucleotide variant Pathogenic rs387907151 GRCh37 Chromosome 19, 55677272: 55677272
20 DNAAF3 NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro) single nucleotide variant Pathogenic rs387907151 GRCh38 Chromosome 19, 55165904: 55165904
21 DNAAF3 NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907152 GRCh37 Chromosome 19, 55676795: 55676795
22 DNAAF3 NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907152 GRCh38 Chromosome 19, 55165427: 55165427
23 DNAAF3 NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs) duplication Pathogenic rs397515395 GRCh37 Chromosome 19, 55673053: 55673053
24 DNAAF3 NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs) duplication Pathogenic rs397515395 GRCh38 Chromosome 19, 55161685: 55161685
25 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh37 Chromosome 17, 42979839: 42979839
26 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh38 Chromosome 17, 44902471: 44902471
27 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic/Likely pathogenic rs145457535 GRCh37 Chromosome 17, 42979917: 42979917
28 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic/Likely pathogenic rs145457535 GRCh38 Chromosome 17, 44902549: 44902549
29 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh37 Chromosome 19, 48807210: 48807210
30 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh38 Chromosome 19, 48303953: 48303953
31 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh37 Chromosome 16, 71022036: 71022036
32 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh38 Chromosome 16, 70988133: 70988133
33 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh37 Chromosome 16, 71171175: 71171175
34 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh38 Chromosome 16, 71137272: 71137272
35 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh37 Chromosome 2, 26677651: 26677651
36 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh38 Chromosome 2, 26454783: 26454783
37 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh37 Chromosome 2, 26644264: 26644264
38 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh38 Chromosome 2, 26421396: 26421396
39 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs376252276 GRCh37 Chromosome 9, 34513110: 34513110
40 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs376252276 GRCh38 Chromosome 9, 34513112: 34513112
41 DNAI1 NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del) single nucleotide variant Pathogenic/Likely pathogenic rs397515563 GRCh37 Chromosome 9, 34517466: 34517466
42 DNAI1 NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del) single nucleotide variant Pathogenic/Likely pathogenic rs397515563 GRCh38 Chromosome 9, 34517468: 34517468
43 DNAI2 NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del) single nucleotide variant Pathogenic rs397515565 GRCh37 Chromosome 17, 72306303: 72306303
44 DNAI2 NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del) single nucleotide variant Pathogenic rs397515565 GRCh38 Chromosome 17, 74310164: 74310164
45 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh37 Chromosome 3, 50382964: 50382964
46 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh38 Chromosome 3, 50345533: 50345533
47 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Likely pathogenic rs200913791 GRCh37 Chromosome 3, 50379904: 50379904
48 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Likely pathogenic rs200913791 GRCh38 Chromosome 3, 50342473: 50342473
49 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh37 Chromosome 10, 28151382: 28151382
50 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh38 Chromosome 10, 27862453: 27862453

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 9.87 CCDC103 CCDC40 DNAH1 DRC1 RSPH1 RSPH4A
3 cilium GO:0005929 9.8 CCDC103 CCDC114 CCDC151 CCDC40 DNAH1 DNAH5
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 CCDC103 CCDC114 CCDC151 CCDC40 DNAH1 DNAH5
10 cytoplasm GO:0005737 10.36 CCDC103 CCDC151 CCDC40 CCNO DNAAF3 DNAH1
11 cytoskeleton GO:0005856 10.14 CCDC151 DNAH1 DNAH5 DNAI1 DNAI2 DNAL1
12 cell projection GO:0042995 10.03 CCDC103 CCDC114 CCDC151 CCDC40 DNAH1 DNAH5

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.87 CCDC103 CCDC151 CCNO DNAAF3 DNAI1 DNAI2
2 cilium assembly GO:0060271 9.84 CCNO DNAH5 DNAI2 MCIDAS
3 determination of left/right symmetry GO:0007368 9.83 CCDC151 DNAH5 DNAI1 DNAI2 DRC1
4 microtubule-based movement GO:0007018 9.8 DNAH1 DNAH5 DNAI1 DNAI2
5 flagellated sperm motility GO:0030317 9.76 CCDC40 DNAH1 DNAH5 DNAI1
6 axoneme assembly GO:0035082 9.71 CCDC40 RSPH1 RSPH4A RSPH9
7 cilium movement GO:0003341 9.7 CCDC103 CCDC114 CCDC151 CCDC40 DNAH1 DNAH5
8 inner dynein arm assembly GO:0036159 9.67 CCDC103 CCDC40 DNAH1 ZMYND10
9 epithelial cilium movement GO:0003351 9.65 CCDC40 DNAH1 DNAI1
10 motile cilium assembly GO:0044458 9.65 CCDC40 DNAAF3 MCIDAS RSPH9 ZMYND10
11 axonemal dynein complex assembly GO:0070286 9.63 CCDC103 CCDC151 CCDC40 DNAAF3 DRC1 SPAG1
12 cilium-dependent cell motility GO:0060285 9.57 DNAH1 DRC1
13 cilium movement involved in cell motility GO:0060294 9.56 DNAH1 RSPH9
14 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.55 CCDC103 CCDC40
15 determination of digestive tract left/right asymmetry GO:0071907 9.52 CCDC103 CCDC40
16 multi-ciliated epithelial cell differentiation GO:1903251 9.51 CCNO MCIDAS
17 outer dynein arm assembly GO:0036158 9.23 CCDC103 CCDC114 CCDC151 DNAH5 DNAI1 DNAI2

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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