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	primary ciliary dyskinesia

Disease ID	13
Disease	primary ciliary dyskinesia
Definition	Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
Synonym	cilia immotile syndrome cilia syndrome, immotile cilia syndromes, immotile ciliary dyskinesia ciliary dyskinesias ciliary motility defect ciliary motility dis ciliary motility disorder ciliary motility disorders ciliary motility disorders [disease/finding] disorder, ciliary motility disorders, ciliary motility dyskinesia, ciliary dyskinesias, ciliary dysmotile cilia syndrome dysmotility syndrome ics - immotile cilia syndrome immotile cilia syndrome immotile cilia syndrome (disorder) immotile cilia syndromes pcd - primary ciliary dyskinesia primary ciliary dyskinesia (disorder) primary ciliary dyskinesia -retired- syndrome, immotile cilia syndromes, immotile cilia
Orphanet	ORPHANET:244
OMIM	OMIM:244400
DOID	DOID:9562
UMLS	C0008780
MeSH	D002925
SNOMED-CT	SNOMEDCT_US_2016_09_01:86204009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:22) C0006267 \| bronchiectasis \| 2 C0024115 \| lung disease \| 2 C0042870 \| vitamin d defic \| 1 C0152021 \| congenital heart disease \| 1 C1619734 \| pulmonary arterial hypertension \| 1 C0032269 \| streptococcus pneumoniae infection \| 1 C0020255 \| hydrocephalus \| 1 C0020538 \| hypertension \| 1 C0021359 \| infertility \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0024115 \| pulmonary disease \| 1 C0006271 \| bronchiolitis \| 1 C0021400 \| influenzae \| 1 C0037315 \| sleep disordered breathing \| 1 C0022521 \| kartagener syndrome \| 1 C0042870 \| vitamin d deficiency \| 1 C0006285 \| bronchopneumonia \| 1 C0022679 \| cystic kidneys \| 1 C0018799 \| heart disease \| 1 C0152020 \| gastroparesis \| 1 C0032285 \| pneumoniae \| 1 C0022679 \| cystic kidney \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:46) 55764 \| IFT122 \| CTD_human 8481 \| OFD1 \| GHR;UNIPROT 6103 \| RPGR \| GHR;UNIPROT 51364 \| ZMYND10 \| UniProtKB-KW;GHR 23322 \| RPGRIP1L \| CTD_human 83544 \| DNAL1 \| GHR 339829 \| CCDC39 \| CLINVAR;UniProtKB-KW;GHR 83861 \| RSPH3 \| UniProtKB-KW 89765 \| RSPH1 \| UniProtKB-KW;GHR 221421 \| RSPH9 \| GHR;UNIPROT;UniProtKB-KW 23639 \| LRRC6 \| UniProtKB-KW;GHR 352909 \| DNAAF3 \| UniProtKB-KW;GHR 161582 \| DYX1C1 \| UniProtKB-KW;GHR 51314 \| NME8 \| UniProtKB-KW;GHR 345895 \| RSPH4A \| GHR;UNIPROT;UniProtKB-KW 2622 \| GAS8 \| UniProtKB-KW 54768 \| HYDIN \| UniProtKB-KW;GHR 388389 \| CCDC103 \| UniProtKB-KW;GHR 10309 \| CCNO \| UniProtKB-KW 1767 \| DNAH5 \| CLINVAR;GHR;UNIPROT;UniProtKB-KW 56623 \| INPP5E \| CTD_human 93233 \| CCDC114 \| UniProtKB-KW;GHR 1063 \| CENPF \| UniProtKB-KW 55130 \| ARMC4 \| UniProtKB-KW;GHR 85478 \| CCDC65 \| GHR 55036 \| CCDC40 \| CLINVAR;UniProtKB-KW;GHR 123872 \| DNAAF1 \| UniProtKB-KW;GHR 1769 \| DNAH8 \| GHR 56683 \| C21orf59 \| UniProtKB-KW;GHR 55172 \| DNAAF2 \| UniProtKB-KW;GHR 6674 \| SPAG1 \| UniProtKB-KW;GHR 374407 \| DNAJB13 \| UniProtKB-KW 139212 \| PIH1D3 \| UniProtKB-KW 8701 \| DNAH11 \| GHR;UNIPROT;UniProtKB-KW 64446 \| DNAI2 \| GHR;UNIPROT;UniProtKB-KW 27019 \| DNAI1 \| GHR;UNIPROT;UniProtKB-KW 115948 \| CCDC151 \| UniProtKB-KW 200373 \| CFAP221 \| Orphanet 161582 \| DNAAF4 \| Orphanet 54919 \| DNAAF5 \| Orphanet 1770 \| DNAH9 \| Orphanet 92749 \| DRC1 \| Orphanet 246176 \| GAS2L2 \| Orphanet 115399 \| LRRC56 \| Orphanet 345643 \| MCIDAS \| Orphanet 27148 \| STK36 \| Orphanet
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 4295 \| MLN \| CIPHER 23322 \| RPGRIP1L \| CTD_human 55764 \| IFT122 \| CTD_human 56623 \| INPP5E \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:60) 84890 \| ADO \| 1.121 \| DISEASES 203 \| AK1 \| 1.714 \| DISEASES 204 \| AK2 \| 2.146 \| DISEASES 8852 \| AKAP4 \| 2.284 \| DISEASES 64400 \| AKTIP \| 1.169 \| DISEASES 10438 \| C1D \| 2.827 \| DISEASES 388389 \| CCDC103 \| 5.132 \| DISEASES 115948 \| CCDC151 \| 5.405 \| DISEASES 339829 \| CCDC39 \| 5.986 \| DISEASES 55036 \| CCDC40 \| 5.921 \| DISEASES 1063 \| CENPF \| 1.778 \| DISEASES 116840 \| CNTROB \| 3.472 \| DISEASES 57703 \| CWC22 \| 1.366 \| DISEASES 123872 \| DNAAF1 \| 5.507 \| DISEASES 352909 \| DNAAF3 \| 3.415 \| DISEASES 25981 \| DNAH1 \| 5.519 \| DISEASES 8701 \| DNAH11 \| 6.529 \| DISEASES 1769 \| DNAH8 \| 3.243 \| DISEASES 374407 \| DNAJB13 \| 3.63 \| DISEASES 83544 \| DNAL1 \| 4.549 \| DISEASES 25911 \| DPCD \| 4.21 \| DISEASES 1781 \| DYNC1I2 \| 1.581 \| DISEASES 79659 \| DYNC2H1 \| 3.364 \| DISEASES 161582 \| DYX1C1 \| 4.604 \| DISEASES 954 \| ENTPD2 \| 1.948 \| DISEASES 377841 \| ENTPD8 \| 2.604 \| DISEASES 2318 \| FLNC \| 1.462 \| DISEASES 2302 \| FOXJ1 \| 4.665 \| DISEASES 57704 \| GBA2 \| 2.117 \| DISEASES 148738 \| HFE2 \| 1.039 \| DISEASES 51361 \| HOOK1 \| 2.882 \| DISEASES 3702 \| ITK \| 2.054 \| DISEASES 11127 \| KIF3A \| 1.882 \| DISEASES 22920 \| KIFAP3 \| 2.766 \| DISEASES 3831 \| KLC1 \| 1.844 \| DISEASES 7044 \| LEFTY2 \| 1.977 \| DISEASES 4586 \| MUC5AC \| 1.117 \| DISEASES 727897 \| MUC5B \| 3.814 \| DISEASES 29922 \| NME7 \| 4.412 \| DISEASES 51686 \| OAZ3 \| 3.102 \| DISEASES 135138 \| PACRG \| 2.169 \| DISEASES 139212 \| PIH1D3 \| 4.951 \| DISEASES 5991 \| RFX3 \| 2.776 \| DISEASES 83695 \| RHNO1 \| 1.414 \| DISEASES 6103 \| RPGR \| 3.967 \| DISEASES 57096 \| RPGRIP1 \| 1.634 \| DISEASES 221421 \| RSPH9 \| 5.897 \| DISEASES 10856 \| RUVBL2 \| 2.108 \| DISEASES 6338 \| SCNN1B \| 1.804 \| DISEASES 5265 \| SERPINA1 \| 1.778 \| DISEASES 5270 \| SERPINE2 \| 4.962 \| DISEASES 79582 \| SPAG16 \| 3.504 \| DISEASES 200162 \| SPAG17 \| 1.835 \| DISEASES 9576 \| SPAG6 \| 3.498 \| DISEASES 83893 \| SPATA16 \| 3.326 \| DISEASES 79925 \| SPEF2 \| 4.625 \| DISEASES 5726 \| TAS2R38 \| 2.01 \| DISEASES 6991 \| TCTE3 \| 3.541 \| DISEASES 164395 \| TTLL9 \| 5.079 \| DISEASES 51366 \| UBR5 \| 1.383 \| DISEASES
Locus	Symbol \| Locus(Total Locus:34) CCDC39 \| 3q26.33 DNAH5 \| 5p15.2 RSPH1 \| 21q22.3 ARMC4 \| 10p12.1 CCDC40 \| 17q25.3 DNAAF2 \| 14q21.3 TTC25 \| 17q21.2 CCNO \| 5q11.2 DNAAF1 \| 16q24.1 ZMYND10 \| 3p21.31 RSPH3 \| 6q25.3 CCDC151 \| 19p13.2 RSPH4A \| 6q22.1 DNAL1 \| 14q24.3 CCDC114 \| 19q13.33 NME8 \| 7p14.1 RPGR \| Xp11.4 DNAI1 \| 9p13.3 DRC1 \| 2p23.3 DNAH11 \| 7p15.3 OFD1 \| Xp22.2 CCDC65 \| 12q13.12 RSPH9 \| 6p21.1 C21ORF59 \| 21q22.11 DNAJB13 \| 11q13.4 DNAAF5 \| 7p22.3 DNAAF3 \| 19q13.42 GAS8 \| 16q24.3 DYX1C1 \| 15q21.3 CCDC103 \| 17q21.31 LRRC6 \| 8q24.22 SPAG1 \| 8q22.2 DNAI2 \| 17q25.1 HYDIN \| 16q22.2

Disease ID	13
Disease	primary ciliary dyskinesia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0002205 \| Recurrent respiratory infections
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0002110 \| Bronchiectasis \| 2 HP:0000789 \| Infertility \| 1 HP:0006532 \| Pneumonia, recurrent episodes \| 1 HP:0001696 \| Situs inversus totalis \| 1 HP:0011947 \| Respiratory infection \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0011950 \| Bronchiolitis \| 1 HP:0002578 \| Gastroparesis \| 1 HP:0002719 \| infections, recurrent \| 1 HP:0001751 \| Vestibular dysfunction \| 1 HP:0012206 \| Abnormal sperm motility \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0000822 \| Hypertension \| 1 HP:0006784 \| Underdevelopment of paranasal sinus \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0002410 \| Aqueductal stenosis \| 1

Disease ID	13
Disease	primary ciliary dyskinesia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:12) C2048468 \| male infertility C2029884 \| hearing loss C1961131 \| cough C0455683 \| congenital heart disease C0262405 \| brain dysfunction C0037090 \| pulmonary symptoms C0035243 \| respiratory tract infection C0032987 \| ectopic pregnancy C0029883 \| otitis media with effusion C0024115 \| lung disease C0009447 \| common variable immunodeficiency C0006267 \| bronchiectasis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0024115 \| lung disease \| 2 C0006267 \| bronchiectasis \| 2 C0152021 \| congenital heart disease \| 1

Manually Genotype(Total Manually Genotypes:8)
Gene	Mutation	DOI	Article Title
DNAH5	chr5:g.13753399delA, heterozygous;NM_001369.2, NP_001360.1;c.10815delT, p.(Pro3606Hisfs*23);chr5:g.13845040A>G, heterozygous;NM_001369.2, NP_001360.1;c.5177T>C, p.(Leu1726Pro)	doi:10.1038/gim.2016.1	A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
DNAH5	c.6249G>A (p.M2083I, splice site), c.7468_7488 del (p.2490_2496 del WSAGAAL)	doi:10.1097/GIM.0b013e318203cff2	Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
DNAH11	c.9113_9116delAAGA (p.K3038TfsX13)	doi:10.1097/GIM.0b013e318203cff2	Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
DNAI1	c.1212T>G (p.Y404X), c.1644G>A (p.W548X)	doi:10.1097/GIM.0b013e318203cff2	Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
DNAH5	Del exon 62 by MLPA (junctions not known), c.13458_59insT (p.N4487fsX1)	doi:10.1097/GIM.0b013e318203cff2	Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
DNAH5	c.5563dupA	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
CCDC114	c.939delT	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
CCDC114	c.939delT54	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs397515392	NA	339829	CCDC39	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC39	3	180661860	C	G
rs397515393	NA	55036	CCDC40	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC40	17	80039966	C	-
rs754867753	NA	55036	CCDC40	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC40	17	80050085	C	T
rs756235547	NA	339829	CCDC39	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC39	3	180659582	T	C
rs769054713	NA	1767	DNAH5	umls:C0008780	CLINVAR	NA	0.125438769	NA	DNAH5	5	13777309	G	A
rs780175755	NA	339829	CCDC39	umls:C0008780	CLINVAR	NA	0.120542884	NA	CCDC39	3	180659759	AG	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002205	Recurrent respiratory infections	MP:0014182	decreased respiratory epithelial sodium ion transmembrane transport	decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002205	Recurrent respiratory infections	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death

Disease ID	13
Disease	primary ciliary dyskinesia
Case	(Waiting for update.)

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