ORPHA:244

Primary ciliary dyskinesia

Synonyms: PCD

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Age of onset: Neonatal
Status: active

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Primary ciliary dyskinesia	PCD
fr	Dyskinésie ciliaire primitive	DCP
de	Zilien-Dyskinesie, primäre	PCD · Primäre ziliäre Dyskinesie · Syndrom der immotilen Zilien
es	Discinesia ciliar primaria
it	Discinesia ciliare primitiva	= en
nl	Primaire ciliaire dyskinesie	= en
pt	Discinesia ciliar primária
pl	Pierwotna dyskinezja rzęsek	= en
cs	Primární ciliární dyskineze	= en
uk	Первинна циліарна дискінезія	= en
zh	原发性纤毛运动障碍	= en
tr	Primer siliyer diskinezi	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	215518	BTNT		validated
OMIM	215520	BTNT		validated
OMIM	242670	BTNT		validated
OMIM	242680	BTNT		validated
OMIM	244400	E		validated
OMIM	300991	BTNT		validated
OMIM	606763	BTNT		validated
OMIM	608644	BTNT		validated
OMIM	608646	BTNT		validated
OMIM	608647	BTNT		validated
OMIM	610852	BTNT		validated
OMIM	611884	BTNT		validated
OMIM	612274	BTNT		validated
OMIM	612444	BTNT		validated
OMIM	612518	BTNT		validated
OMIM	612649	BTNT		validated
OMIM	612650	BTNT		validated
OMIM	613193	BTNT		validated
OMIM	613807	BTNT		validated
OMIM	613808	BTNT		validated
OMIM	614017	BTNT		validated
OMIM	614679	BTNT		validated
OMIM	614874	BTNT		validated
OMIM	614935	BTNT		validated
OMIM	615067	BTNT		validated
OMIM	615294	BTNT		validated
OMIM	615444	BTNT		validated
OMIM	615451	BTNT		validated
OMIM	615481	BTNT		validated
OMIM	615482	BTNT		validated
OMIM	615500	BTNT		validated
OMIM	615504	BTNT		validated
OMIM	615505	BTNT		validated
OMIM	615872	BTNT		validated
OMIM	616037	BTNT		validated
OMIM	616481	BTNT		validated
OMIM	616726	BTNT		validated
OMIM	617091	BTNT		validated
OMIM	617092	BTNT		validated
OMIM	617577	BTNT		validated
OMIM	618063	BTNT		validated
OMIM	618254	BTNT		validated
OMIM	618300	BTNT		validated
OMIM	618449	BTNT		validated
OMIM	618695	BTNT		validated
OMIM	618699	BTNT		validated
OMIM	618781	BTNT		validated
OMIM	618801	BTNT		validated
OMIM	619436	BTNT		validated
OMIM	620032	BTNT		validated
OMIM	620197	BTNT		validated
OMIM	620356	BTNT		validated
OMIM	620438	BTNT		validated
OMIM	620570	BTNT		validated
OMIM	620642	BTNT		validated
ICD-10	Q34.8	NTBT	attributed	validated
ICD-11	LA75.Y	NTBT	index	validated
MONDO	0016575	E		validated
UMLS	C4551720	E		validated
GARD	4484	E		validated
MedDRA	10069713	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97955Rare respiratory disease

Parents in the classifications (4):

ORPHA:399813Male infertility due to sperm motility disorder
rare genetic diseases; rare infertility disorders
ORPHA:156610Rare genetic respiratory disease
rare genetic diseases
ORPHA:101944Rare pulmonary disease
rare respiratory diseases
ORPHA:156171Retinal ciliopathy due to mutation in the RPGR gene
rare genetic diseases

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:91365OBSOLETE: Secondary ciliary dyskinesia referred to · inactive
ORPHA:98861Primary ciliary dyskinesia, Kartagener type moved to · inactive

Genes

53 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CCNO	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:18576	ENSG00000152669	607752	5q11.2	cyclin O	24747639[PMID]_24824133[PMID]
CFAP300	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:28188	ENSG00000137691	618058	11q22.1	cilia and flagella associated protein 300	29727692[PMID]_29727693[PMID]
DNAAF11	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:16725	ENSG00000129295	614930	8q24.22	dynein axonemal assembly factor 11	23122589[PMID]_20301301[PMID]
DNAAF4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:21493	ENSG00000256061	608706	15q21.3	dynein axonemal assembly factor 4	23872636[PMID]
DNAAF6	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:28570	ENSG00000080572	300933	Xq22.3	PIH1 domain containing 3	28041644[PMID]
DNAH9	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:2953	ENSG00000007174	603330	17p12	dynein axonemal heavy chain 9	30471717[PMID]_30471718[PMID]
DNAJB13	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:30718	ENSG00000187726	610263	11q13.4	DnaJ heat shock protein family (Hsp40) member B13	27486783[PMID]
DRC1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:24245	ENSG00000157856	615288	2p23.3	dynein regulatory complex subunit 1	23354437[PMID]
DRC4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4166	ENSG00000141013	605178	16q24.3	dynein regulatory complex subunit 4	26387594[PMID]
FOXJ1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:3816	ENSG00000129654	602291	17q25.1	forkhead box J1	31630787[PMID]
HYDIN	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:19368	ENSG00000157423	610812	16q22.2	HYDIN axonemal central pair apparatus protein	23022101[PMID]_20301301[PMID]
MCIDAS	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:40050	ENSG00000234602	614086	5q11.2	multiciliate differentiation and DNA synthesis associated cell cycle protein	25048963[PMID]
ODAD1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:26560	ENSG00000105479	615038	19q13.33	outer dynein arm docking complex subunit 1	23261303[PMID]_23261302[PMID]
ODAD2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25583	ENSG00000169126	615408	10p12.1	outer dynein arm docking complex subunit 2	23849778[PMID]
ODAD3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:28303	ENSG00000198003	615956	19p13.2	outer dynein arm docking complex subunit 3	25192045[PMID]
ODAD4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25280	ENSG00000204815	617095	17q21.2	outer dynein arm docking complex subunit 4	27486780[PMID]
RSPH1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12371	ENSG00000160188	609314	21q22.3	radial spoke head component 1	23993197[PMID]
STK36	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:17209	ENSG00000163482	607652	2q35	serine/threonine kinase 36	28543983[PMID]
TTC12	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:23700	ENSG00000149292	610732	11q23.2	tetratricopeptide repeat domain 12	31820119[PMID]
ZMYND10	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:19412	ENSG00000004838	607070	3p21.31	zinc finger MYND-type containing 10	23891471[PMID]_23891469[PMID]
BRWD1	Disease-causing germline mutation(s) in	Assessed	HGNC:12760	ENSG00000185658	617824	21q22.2	bromodomain and WD repeat domain containing 1	33389130[PMID]
CCDC39	Disease-causing germline mutation(s) in	Assessed	HGNC:25244	ENSG00000284862	613798	3q26.33	coiled-coil domain 39 molecular ruler complex subunit	20301301[PMID]
CCDC40	Disease-causing germline mutation(s) in	Assessed	HGNC:26090	ENSG00000141519	613799	17q25.3	coiled-coil domain 40 molecular ruler complex subunit	20301301[PMID]
CFAP221	Disease-causing germline mutation(s) in	Assessed	HGNC:33720	ENSG00000163075	618704	2q14.2	cilia and flagella associated protein 221	31636325[PMID]
CFAP298	Disease-causing germline mutation(s) in	Assessed	HGNC:1301	ENSG00000159079	615494	21q22.11	cilia and flagella associated protein 298	24094744[PMID]
CFAP74	Disease-causing germline mutation(s) in	Assessed	HGNC:29368	ENSG00000142609	620187	1p36.33	cilia and flagella associated protein 74	36047773[PMID]
CLXN	Disease-causing germline mutation(s) in	Assessed	HGNC:25678	ENSG00000034239	619564	8q11.21	calaxin	36727596[PMID]
DAW1	Disease-causing germline mutation(s) in	Assessed	HGNC:26383	ENSG00000123977	620279	2q36.3	dynein assembly factor with WD repeats 1	36074124[PMID]
DNAAF1	Disease-causing germline mutation(s) in	Assessed	HGNC:30539	ENSG00000154099	613190	16q24.1	dynein axonemal assembly factor 1	20301301[PMID]
DNAAF19	Disease-causing germline mutation(s) in	Assessed	HGNC:32700	ENSG00000167131	614677	17q21.31	dynein axonemal assembly factor 19	22581229[PMID]_20301301[PMID]
DNAAF2	Disease-causing germline mutation(s) in	Assessed	HGNC:20188	ENSG00000165506	612517	14q21.3	dynein axonemal assembly factor 2	20301301[PMID]
DNAAF3	Disease-causing germline mutation(s) in	Assessed	HGNC:30492	ENSG00000167646	614566	19q13.42	dynein axonemal assembly factor 3	22387996[PMID]_20301301[PMID]
DNAAF5	Disease-causing germline mutation(s) in	Assessed	HGNC:26013	ENSG00000164818	614864	7p22.3	dynein axonemal assembly factor 5	23040496[PMID]_20301301[PMID]
DNAH1	Disease-causing germline mutation(s) in	Assessed	HGNC:2940	ENSG00000114841	603332	3p21.1	dynein axonemal heavy chain 1	25927852[PMID]
DNAH11	Disease-causing germline mutation(s) in	Assessed	HGNC:2942	ENSG00000105877	603339	7p15.3	dynein axonemal heavy chain 11	20301301[PMID]
DNAH5	Disease-causing germline mutation(s) in	Assessed	HGNC:2950	ENSG00000039139	603335	5p15.2	dynein axonemal heavy chain 5	20301301[PMID]
DNAH7	Disease-causing germline mutation(s) in	Assessed	HGNC:18661	ENSG00000118997	610061	2q32.3	dynein axonemal heavy chain 7	34476482[PMID]
DNAI1	Disease-causing germline mutation(s) in	Assessed	HGNC:2954	ENSG00000122735	604366	9p13.3	dynein axonemal intermediate chain 1	20301301[PMID]
DNAI2	Disease-causing germline mutation(s) in	Assessed	HGNC:18744	ENSG00000171595	605483	17q25.1	dynein axonemal intermediate chain 2	20301301[PMID]
DNAL1	Disease-causing germline mutation(s) in	Assessed	HGNC:23247	ENSG00000119661	610062	14q24.3	dynein axonemal light chain 1	20301301[PMID]
DRC2	Disease-causing germline mutation(s) in	Assessed	HGNC:29937	ENSG00000139537	611088	12q13.12	dynein regulatory complex subunit 2	24094744[PMID]
GAS2L2	Disease-causing germline mutation(s) in	Assessed	HGNC:24846	ENSG00000270765	611398	17q12	growth arrest specific 2 like 2	30649222[PMID]
LRRC56	Disease-causing germline mutation(s) in	Assessed	HGNC:25430	ENSG00000161328	618227	11p15.5	leucine rich repeat containing 56	30388400[PMID]
NEK10	Disease-causing germline mutation(s) in	Assessed	HGNC:18592	ENSG00000163491	618726	3p24.1	NIMA related kinase 10	31959991[PMID]
NME5	Disease-causing germline mutation(s) in	Assessed	HGNC:7853	ENSG00000112981	603575	5q31.2	NME/NM23 family member 5	32185794[PMID]_32950024[PMID]
NME8	Disease-causing germline mutation(s) in	Assessed	HGNC:16473	ENSG00000086288	607421	7p14.1	NME/NM23 family member 8	20301301[PMID]
OFD1	Disease-causing germline mutation(s) in	Assessed	HGNC:2567	ENSG00000046651	300170	Xp22.2	OFD1 centriole and centriolar satellite protein
RPGR	Disease-causing germline mutation(s) in	Assessed	HGNC:10295	ENSG00000156313	312610	Xp11.4	retinitis pigmentosa GTPase regulator
RSPH3	Disease-causing germline mutation(s) in	Assessed	HGNC:21054	ENSG00000130363	615876	6q25.3	radial spoke head 3	26073779[PMID]
RSPH4A	Disease-causing germline mutation(s) in	Assessed	HGNC:21558	ENSG00000111834	612647	6q22.1	radial spoke head component 4A	20301301[PMID]
RSPH9	Disease-causing germline mutation(s) in	Assessed	HGNC:21057	ENSG00000172426	612648	6p21.1	radial spoke head component 9	20301301[PMID]
SPAG1	Disease-causing germline mutation(s) in	Assessed	HGNC:11212	ENSG00000104450	603395	8q22.2	sperm associated antigen 1	24055112[PMID]
SPEF2	Disease-causing germline mutation(s) in	Assessed	HGNC:26293	ENSG00000152582	610172	5p13.2	sperm flagellar and cilia associated 2	31545650[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-5 / 10 000	44 / 100 000	Pakistan	Value and class	Validated	19720631[PMID]
Prevalence at birth	1-9 / 100 000	5 / 100 000	Europe	Value and class	Validated	23871404[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

47 annotations · validated 2020-04-10

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0012206	Abnormal sperm motility
HP:0032016	Abnormal sputum
HP:0000389	Chronic otitis media
HP:0002257	Chronic rhinitis
HP:0011109	Chronic sinusitis
HP:0003251	Male infertility
HP:0001742	Nasal congestion
HP:0100582	Nasal polyposis
HP:0002643	Neonatal respiratory distress
HP:0031245	Productive cough
HP:0000403	Recurrent otitis media
HP:0005425	Recurrent sinopulmonary infections
HP:0011947	Respiratory tract infection
Occasional (29-5%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0001627	Abnormal heart morphology
HP:0000119	Abnormality of the genitourinary system
HP:0000924	Abnormality of the skeletal system
HP:0006536	Airway obstruction
HP:0100750	Atelectasis
HP:0002110	Bronchiectasis
HP:0001217	Clubbing
HP:0000405	Conductive hearing impairment
HP:0000750	Delayed speech and language development
HP:0031456	Ectopic pregnancy
HP:0008222	Female infertility
HP:0000365	Hearing impairment
HP:0032543	Lithoptysis
HP:0002011	Morphological central nervous system abnormality
HP:0025177	Peribronchovascular interstitial thickening
HP:0011617	Pulmonary situs ambiguus
HP:0011274	Recurrent mycobacterial infections
HP:0001696	Situs inversus totalis
HP:0030828	Wheezing
Very rare (<4-1%)
HP:0011535	Abnormal atrial arrangement
HP:0025576	Abnormal inferior vena cava morphology
HP:0010772	Anomalous pulmonary venous return
HP:0001746	Asplenia
HP:0011539	Atrial situs ambiguous
HP:0001719	Double outlet right ventricle
HP:0000238	Hydrocephalus
HP:0002566	Intestinal malrotation
HP:0005301	Persistent left superior vena cava
HP:0001748	Polysplenia
HP:0002878	Respiratory failure
HP:0000510	Rod-cone dystrophy
HP:0001669	Transposition of the great arteries
HP:0002119	Ventriculomegaly

Annotation source: 20301301[PMID]_28250080[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/244
This record as JSON: /data/d/244.json