CILD19
MCID: CLR095
MIFTS: 33

Ciliary Dyskinesia, Primary, 19 (CILD19)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 19

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 19:

Name: Ciliary Dyskinesia, Primary, 19 56 73 29 13 6 71
Cild19 56 12 73
Primary Ciliary Dyskinesia 19 with or Without Situs Inversus 12 73
Primary Ciliary Dyskinesia 19 12 15
Ciliary Dyskinesia, Primary, 19, with or Without Situs Inversus 56
Dyskinesia, Ciliary, Primary, 19 39
Immotile Cilia Syndrome 19 73
Ics19 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

31
ciliary dyskinesia, primary, 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110608
OMIM 56 614935
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
UMLS 71 C3543826

Summaries for Ciliary Dyskinesia, Primary, 19

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 19: 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.

MalaCards based summary : Ciliary Dyskinesia, Primary, 19, also known as cild19, is related to mitochondrial dna depletion syndrome 5. An important gene associated with Ciliary Dyskinesia, Primary, 19 is LRRC6 (Leucine Rich Repeat Containing 6). Related phenotypes are situs inversus totalis and recurrent otitis media

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has material basis in homozygous mutation in the LRRC6 on chromosome 8q24.

OMIM : 56 Primary ciliary dyskinesia-19 is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by Kott et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (614935)

Related Diseases for Ciliary Dyskinesia, Primary, 19

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, Primary, 41 Ciliary Dyskinesia, Primary, 42
Ciliary Dyskinesia, Primary, 43 Ciliary Dyskinesia, Primary, 44
Ciliary Dyskinesia, Primary, 45 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 19 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 5 8.7 SUCLA2 LRRC6 FGFR3 BAIAP2L2

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 19

Human phenotypes related to Ciliary Dyskinesia, Primary, 19:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 frequent (33%) HP:0001696
2 recurrent otitis media 31 HP:0000403
3 infertility 31 HP:0000789
4 nasal polyposis 31 HP:0100582
5 bronchiectasis 31 HP:0002110
6 ciliary dyskinesia 31 HP:0012265
7 rhinitis 31 HP:0012384
8 recurrent sinusitis 31 HP:0011108
9 reduced sperm motility 31 HP:0012207
10 chronic bronchitis 31 HP:0004469
11 immotile cilia 31 HP:0012263
12 absent inner and outer dynein arms 31 HP:0012259
13 respiratory insufficiency due to defective ciliary clearance 31 HP:0200073

Symptoms via clinical synopsis from OMIM:

56
Respiratory Airways:
chronic bronchitis

Genitourinary Internal Genitalia Male:
asthenospermia
infertility due to immotile sperm

Head And Neck Head:
sinusitis, recurrent

Abdomen:
situs inversus (in about half of patients)

Respiratory:
respiratory insufficiency due to defective ciliary clearance
respiratory infections, recurrent

Head And Neck Nose:
nasal polyps
rhinitis, recurrent

Head And Neck Ears:
otitis media, recurrent

Laboratory Abnormalities:
electron microscopy of patient respiratory cells shows absent inner and outer dynein arms
lack of ciliary motility

Clinical features from OMIM:

614935

GenomeRNAi Phenotypes related to Ciliary Dyskinesia, Primary, 19 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.02 CFTR FGFR3 TBX1
2 Increased Nanog expression GR00371-A-2 9.02 TBX1
3 Increased Nanog expression GR00371-A-4 9.02 TBX1

MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 19:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 CFTR FGFR3 LRRC6 TBX1
2 digestive/alimentary MP:0005381 9.46 CFTR FGFR3 LRRC6 TBX1
3 hearing/vestibular/ear MP:0005377 9.13 BAIAP2L2 FGFR3 TBX1
4 respiratory system MP:0005388 8.92 CFTR FGFR3 LRRC6 TBX1

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 19

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 19

Genetic Tests for Ciliary Dyskinesia, Primary, 19

Genetic tests related to Ciliary Dyskinesia, Primary, 19:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 19 29 LRRC6

Anatomical Context for Ciliary Dyskinesia, Primary, 19

Publications for Ciliary Dyskinesia, Primary, 19

Articles related to Ciliary Dyskinesia, Primary, 19:

# Title Authors PMID Year
1
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 56 6
23891469 2013
2
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. 56 6
23122589 2012
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
6
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 19

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 19:

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRRC6 NM_012472.6(LRRC6):c.633C>A (p.Tyr211Ter)SNV Pathogenic 540325 rs750603177 8:133645006-133645006 8:132632760-132632760
2 LRRC6 NM_012472.6(LRRC6):c.1050del (p.Gln351fs)deletion Pathogenic 540328 rs763900107 8:133622502-133622502 8:132610256-132610256
3 LRRC6 NM_012472.6(LRRC6):c.936_937del (p.Asp312fs)deletion Pathogenic 654068 8:133627321-133627322 8:132615075-132615076
4 LRRC6 NM_012472.6(LRRC6):c.10+1G>ASNV Pathogenic 652985 8:133687729-133687729 8:132675483-132675483
5 LRRC6 NM_012472.6(LRRC6):c.1226+1G>ASNV Pathogenic 860454 8:133595940-133595940 8:132583693-132583693
6 LRRC6 NM_012472.6(LRRC6):c.598_599del (p.Lys200fs)deletion Pathogenic 39794 rs397515424 8:133645040-133645041 8:132632794-132632795
7 LRRC6 NM_012472.6(LRRC6):c.574C>T (p.Gln192Ter)SNV Pathogenic 39795 rs141945265 8:133645065-133645065 8:132632819-132632819
8 LRRC6 NM_012472.6(LRRC6):c.576dup (p.Glu193fs)duplication Pathogenic 39796 rs397515425 8:133645062-133645063 8:132632816-132632817
9 LRRC6 NM_012472.6(LRRC6):c.220G>C (p.Ala74Pro)SNV Pathogenic 39797 rs397514596 8:133669112-133669112 8:132656866-132656866
10 LRRC6 NM_012472.6(LRRC6):c.436G>C (p.Asp146His)SNV Pathogenic 39798 rs200321595 8:133645203-133645203 8:132632957-132632957
11 LRRC6 NM_012472.6(LRRC6):c.562C>T (p.Gln188Ter)SNV Pathogenic 66028 rs397515461 8:133645077-133645077 8:132632831-132632831
12 LRRC6 NM_012472.6(LRRC6):c.630del (p.Trp210fs)deletion Pathogenic 208996 rs760123202 8:133645009-133645009 8:132632763-132632763
13 LRRC6 NM_012472.6(LRRC6):c.538C>T (p.Arg180Ter)SNV Pathogenic 834793 8:133645101-133645101 8:132632855-132632855
14 LRRC6 NM_012472.6(LRRC6):c.1245A>G (p.Lys415=)SNV Conflicting interpretations of pathogenicity 260271 rs149631064 8:133584710-133584710 8:132572462-132572462
15 LRRC6 NM_012472.6(LRRC6):c.1162G>A (p.Gly388Ser)SNV Conflicting interpretations of pathogenicity 260269 rs77289466 8:133596005-133596005 8:132583758-132583758
16 LRRC6 NM_012472.6(LRRC6):c.1391C>T (p.Pro464Leu)SNV Conflicting interpretations of pathogenicity 260273 rs139131485 8:133584564-133584564 8:132572316-132572316
17 LRRC6 NM_012472.6(LRRC6):c.31C>T (p.Arg11Trp)SNV Conflicting interpretations of pathogenicity 772282 8:133673853-133673853 8:132661607-132661607
18 LRRC6 NM_012472.6(LRRC6):c.574C>G (p.Gln192Glu)SNV Conflicting interpretations of pathogenicity 540332 rs141945265 8:133645065-133645065 8:132632819-132632819
19 LRRC6 NM_012472.6(LRRC6):c.299T>C (p.Ile100Thr)SNV Conflicting interpretations of pathogenicity 540329 rs139008774 8:133650311-133650311 8:132638065-132638065
20 LRRC6 NM_012472.6(LRRC6):c.77_78TC[1] (p.Ser27fs)short repeat Conflicting interpretations of pathogenicity 540327 rs769220870 8:133673804-133673805 8:132661558-132661559
21 LRRC6 NM_012472.6(LRRC6):c.408A>G (p.Val136=)SNV Conflicting interpretations of pathogenicity 260276 rs762081490 8:133650202-133650202 8:132637956-132637956
22 LRRC6 NM_012472.6(LRRC6):c.1211A>C (p.Glu404Ala)SNV Uncertain significance 837976 8:133595956-133595956 8:132583709-132583709
23 LRRC6 NM_012472.6(LRRC6):c.1109C>G (p.Thr370Arg)SNV Uncertain significance 361902 rs148424037 8:133622443-133622443 8:132610197-132610197
24 LRRC6 NM_012472.6(LRRC6):c.1300G>A (p.Glu434Lys)SNV Uncertain significance 361900 rs886062700 8:133584655-133584655 8:132572407-132572407
25 LRRC6 NM_012472.6(LRRC6):c.974+14C>ASNV Uncertain significance 361903 rs780037666 8:133627270-133627270 8:132615024-132615024
26 LRRC6 NM_012472.6(LRRC6):c.1178A>G (p.Lys393Arg)SNV Uncertain significance 361901 rs776429452 8:133595989-133595989 8:132583742-132583742
27 LRRC6 NM_012472.6(LRRC6):c.611C>T (p.Ala204Val)SNV Uncertain significance 361904 rs376633613 8:133645028-133645028 8:132632782-132632782
28 LRRC6 NM_012472.6(LRRC6):c.2T>A (p.Met1Lys)SNV Uncertain significance 540324 rs377278570 8:133687738-133687738 8:132675492-132675492
29 LRRC6 NM_012472.6(LRRC6):c.668G>A (p.Ser223Asn)SNV Uncertain significance 540326 rs1404624888 8:133637686-133637686 8:132625440-132625440
30 LRRC6 NM_012472.6(LRRC6):c.1258C>A (p.Pro420Thr)SNV Uncertain significance 473105 rs1554667007 8:133584697-133584697 8:132572449-132572449
31 LRRC6 NM_012472.6(LRRC6):c.610G>A (p.Ala204Thr)SNV Uncertain significance 473107 rs772453135 8:133645029-133645029 8:132632783-132632783
32 LRRC6 NM_012472.6(LRRC6):c.949A>G (p.Ile317Val)SNV Uncertain significance 473109 rs146067670 8:133627309-133627309 8:132615063-132615063
33 LRRC6 NM_012472.6(LRRC6):c.1096A>G (p.Lys366Glu)SNV Uncertain significance 473103 rs201309011 8:133622456-133622456 8:132610210-132610210
34 LRRC6 NM_012472.6(LRRC6):c.1084_1086AGT[1] (p.Ser364del)short repeat Uncertain significance 473102 rs1554679225 8:133622463-133622465 8:132610217-132610219
35 LRRC6 NM_012472.6(LRRC6):c.675C>A (p.Asp225Glu)SNV Uncertain significance 473108 rs1056548399 8:133637679-133637679 8:132625433-132625433
36 LRRC6 NM_012472.6(LRRC6):c.27T>G (p.Ile9Met)SNV Uncertain significance 473106 rs200906172 8:133673857-133673857 8:132661611-132661611
37 LRRC6 NM_012472.6(LRRC6):c.1081G>A (p.Asp361Asn)SNV Uncertain significance 575268 rs1365254688 8:133622471-133622471 8:132610225-132610225
38 LRRC6 NM_012472.6(LRRC6):c.644A>G (p.Asn215Ser)SNV Uncertain significance 582972 rs143717300 8:133644995-133644995 8:132632749-132632749
39 LRRC6 NM_012472.6(LRRC6):c.525T>A (p.Asp175Glu)SNV Uncertain significance 570454 rs1316268216 8:133645114-133645114 8:132632868-132632868
40 LRRC6 NM_012472.6(LRRC6):c.472G>T (p.Ala158Ser)SNV Uncertain significance 570643 rs146136398 8:133645167-133645167 8:132632921-132632921
41 LRRC6 NM_012472.6(LRRC6):c.1294G>T (p.Val432Phe)SNV Uncertain significance 568271 rs770349365 8:133584661-133584661 8:132572413-132572413
42 LRRC6 NM_012472.6(LRRC6):c.1013C>T (p.Pro338Leu)SNV Uncertain significance 576562 rs140835420 8:133623571-133623571 8:132611325-132611325
43 LRRC6 NM_012472.6(LRRC6):c.1324C>T (p.Arg442Ter)SNV Uncertain significance 656966 8:133584631-133584631 8:132572383-132572383
44 LRRC6 NM_012472.6(LRRC6):c.1021G>T (p.Val341Leu)SNV Uncertain significance 662468 8:133623563-133623563 8:132611317-132611317
45 LRRC6 NM_012472.6(LRRC6):c.997G>A (p.Asp333Asn)SNV Uncertain significance 644077 8:133623587-133623587 8:132611341-132611341
46 LRRC6 NM_012472.6(LRRC6):c.989C>T (p.Ser330Phe)SNV Uncertain significance 640125 8:133623595-133623595 8:132611349-132611349
47 LRRC6 NM_012472.6(LRRC6):c.802A>T (p.Met268Leu)SNV Uncertain significance 653541 8:133637552-133637552 8:132625306-132625306
48 LRRC6 NM_012472.6(LRRC6):c.914+3A>GSNV Uncertain significance 653492 8:133634854-133634854 8:132622608-132622608
49 LRRC6 NM_012472.6(LRRC6):c.837-10C>GSNV Uncertain significance 654860 8:133634944-133634944 8:132622698-132622698
50 LRRC6 NM_012472.6(LRRC6):c.523G>T (p.Asp175Tyr)SNV Uncertain significance 837965 8:133645116-133645116 8:132632870-132632870

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 19:

73
# Symbol AA change Variation ID SNP ID
1 LRRC6 p.Ala74Pro VAR_069038 rs397514596
2 LRRC6 p.Asp146His VAR_069039 rs200321595

Expression for Ciliary Dyskinesia, Primary, 19

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 19.

Pathways for Ciliary Dyskinesia, Primary, 19

GO Terms for Ciliary Dyskinesia, Primary, 19

Biological processes related to Ciliary Dyskinesia, Primary, 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 8.96 CFTR BAIAP2L2
2 positive regulation of MAPK cascade GO:0043410 8.62 TBX1 FGFR3

Sources for Ciliary Dyskinesia, Primary, 19

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