Details of Disease

Disease Name

Primary ciliary dyskinesia 1

PCD; ciliary dyskinesia, primary, 1, with or without situs inversus; Kartagener syndrome; ciliary dyskinesia, primary, 1; Siewert syndrome; dextrocardia, bronchiectasis, and sinusitis; immotile cilia syndrome; Polynesian bronchiectasis; primary ciliary dyskinesia type 1; primary ciliary dyskinesia 1 with or without situs inversus; primary ciliary dyskinesia 1; DNAI1 primary ciliary dyskinesia; ciliary dyskinesia, primary, type 1; CILD1; primary ciliary dyskinesia caused by mutation in DNAI1

Definition

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.

Disease Hierarchy

DISOBC7V: Primary ciliary dyskinesia

DISPGX6H: Primary ciliary dyskinesia 1

Disease Identifiers

MONDO ID

MONDO_0009484

MESH ID

D007619

UMLS CUI

C4551906

OMIM ID

244400

MedGen ID

1646059

Orphanet ID

98861

General Information of Disease (ID: DISPGX6H)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
STK36	TTX5KEQ	Disputed	GermlineCausalMutation	[1]
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This Disease Is Related to 29 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCNO	OT68CH0B	moderate	GermlineCausalMutation	[2]
RSPH1	OT3MR73R	moderate	CausalMutation	[3]
CCDC103	OTWGXYEF	Strong	GermlineCausalMutation	[4]
CCDC40	OTFHEUUN	Strong	Biomarker	[5]
CCDC65	OTLK1420	Strong	GermlineCausalMutation	[6]
CFAP221	OTUVNCVZ	Strong	GermlineCausalMutation	[7]
CFAP298	OTTDRT2N	Strong	GermlineCausalMutation	[6]
CFAP300	OTJWZZIO	Strong	GermlineCausalMutation	[8]
DNAAF1	OTYLQLHO	Strong	CausalMutation	[9]
DNAAF3	OT3OHO0O	Strong	Biomarker	[10]
DNAAF4	OTVDYBJE	Strong	Biomarker	[11]
DNAAF5	OTN0CT52	Strong	GermlineCausalMutation	[12]
DNAH1	OTDZ26FJ	Strong	GermlineCausalMutation	[13]
DNAH5	OTC21RUS	Strong	CausalMutation	[14]
DNAH9	OTI2QIZQ	Strong	GermlineCausalMutation	[15]
DNAJB13	OT264P6X	Strong	GermlineCausalMutation	[16]
DNAL1	OTU5AWIS	Strong	CausalMutation	[17]
DRC1	OT7WLL0X	Strong	Autosomal recessive	[18]
FOXJ1	OT7LLBZ7	Strong	GermlineCausalMutation	[19]
GAS2L2	OTV0H6MJ	Strong	GermlineCausalMutation	[20]
GAS8	OT8KT2AK	Strong	GermlineCausalMutation	[21]
HYDIN	OTY88F5F	Strong	GermlineCausalMutation	[22]
LRRC56	OTDXNK54	Strong	GermlineCausalMutation	[23]
MCIDAS	OTK1JVAH	Strong	GermlineCausalMutation	[24]
RSPH3	OTDPCNYN	Strong	GermlineCausalMutation	[25]
RSPH4A	OTNDPGEE	Strong	CausalMutation	[2]
SPAG1	OT29JZKW	Strong	GermlineCausalMutation	[26]
SPEF2	OTO04K1T	Strong	GermlineCausalMutation	[27]
DNAI1	OTF6C65Q	Definitive	Autosomal recessive	[28]
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⏷ Show the Full List of 29 DOT(s)

References

1	Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. Hum Mutat. 2017 Aug;38(8):964-969. doi: 10.1002/humu.23261. Epub 2017 Jun 15.
2	Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.Eur J Hum Genet. 2015 Feb;23(2):210-7. doi: 10.1038/ejhg.2014.79. Epub 2014 May 14.
3	Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC.
4	CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet. 2012 May 13;44(6):714-9. doi: 10.1038/ng.2277.
5	The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet. 2011 Jan;43(1):79-84. doi: 10.1038/ng.727. Epub 2010 Dec 5.
6	Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet. 2013 Oct 3;93(4):672-86. doi: 10.1016/j.ajhg.2013.08.015.
7	Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Genet. 2020 Jan;65(2):175-180. doi: 10.1038/s10038-019-0686-1. Epub 2019 Oct 21.
8	C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. Am J Hum Genet. 2018 May 3;102(5):956-972. doi: 10.1016/j.ajhg.2018.03.024.
9	Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 2009 Dec;85(6):883-9. doi: 10.1016/j.ajhg.2009.10.018.
10	Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet. 2012 Mar 4;44(4):381-9, S1-2. doi: 10.1038/ng.1106.
11	DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21.
12	Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2012 Oct 5;91(4):685-93. doi: 10.1016/j.ajhg.2012.08.022.
13	Variation in DNAH1 may contribute to primary ciliary dyskinesia. BMC Med Genet. 2015 Mar 17;16:14. doi: 10.1186/s12881-015-0162-5.
14	Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.J Pediatr. 2013 Aug;163(2):383-7. doi: 10.1016/j.jpeds.2013.01.061. Epub 2013 Mar 7.
15	Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21.
16	Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022.
17	Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet. 2011 May 13;88(5):599-607. doi: 10.1016/j.ajhg.2011.03.018. Epub 2011 Apr 14.
18	The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet. 2013 Mar;45(3):262-8. doi: 10.1038/ng.2533. Epub 2013 Jan 27.
19	De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17.
20	A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. Brain. 2019 Feb 1;142(2):e4. doi: 10.1093/brain/awy343.
21	Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am J Hum Genet. 2015 Oct 1;97(4):546-54. doi: 10.1016/j.ajhg.2015.08.012. Epub 2015 Sep 17.
22	Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet. 2012 Oct 5;91(4):672-84. doi: 10.1016/j.ajhg.2012.08.016. Epub 2012 Sep 27.
23	Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003.
24	MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Commun. 2014 Jul 22;5:4418. doi: 10.1038/ncomms5418.
25	RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11.
26	Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.
27	SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics. Am J Respir Cell Mol Biol. 2020 Mar;62(3):382-396. doi: 10.1165/rcmb.2019-0086OC.
28	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.