CILD19
MCID: CLR095
MIFTS: 32

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 crouzon syndrome with acanthosis nigricans and 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, 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 crouzon syndrome with acanthosis nigricans 9.5 FGFR3 CAMK4
2 mitochondrial dna depletion syndrome 5 7.9 TBX1 SUCLA2 LRRC6 FGFR3 CFTR 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 immotile cilia 31 HP:0012263
7 chronic bronchitis 31 HP:0004469
8 rhinitis 31 HP:0012384
9 reduced sperm motility 31 HP:0012207
10 ciliary dyskinesia 31 HP:0012265
11 recurrent sinusitis 31 HP:0011108
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 human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 CAMK4 FGFR3 TSSK1B
2 Increased Nanog expression GR00371-A-1 9.02 CFTR FGFR3 TBX1
3 Increased Nanog expression GR00371-A-2 9.02 TBX1
4 Increased Nanog expression GR00371-A-4 9.02 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 all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRRC6 NM_012472.6(LRRC6):c.630del (p.Trp210fs)deletion Pathogenic 208996 rs760123202 8:133645009-133645009 8:132632763-132632763
2 LRRC6 NM_012472.6(LRRC6):c.598_599del (p.Lys200fs)deletion Pathogenic 39794 rs397515424 8:133645040-133645041 8:132632794-132632795
3 LRRC6 NM_012472.6(LRRC6):c.574C>T (p.Gln192Ter)SNV Pathogenic 39795 rs141945265 8:133645065-133645065 8:132632819-132632819
4 LRRC6 NM_012472.6(LRRC6):c.576dup (p.Glu193fs)duplication Pathogenic 39796 rs397515425 8:133645062-133645063 8:132632816-132632817
5 LRRC6 NM_012472.6(LRRC6):c.220G>C (p.Ala74Pro)SNV Pathogenic 39797 rs397514596 8:133669112-133669112 8:132656866-132656866
6 LRRC6 NM_012472.6(LRRC6):c.436G>C (p.Asp146His)SNV Pathogenic 39798 rs200321595 8:133645203-133645203 8:132632957-132632957
7 LRRC6 NM_012472.6(LRRC6):c.562C>T (p.Gln188Ter)SNV Pathogenic 66028 rs397515461 8:133645077-133645077 8:132632831-132632831
8 LRRC6 NM_012472.6(LRRC6):c.633C>A (p.Tyr211Ter)SNV Pathogenic 540325 rs750603177 8:133645006-133645006 8:132632760-132632760
9 LRRC6 NM_012472.6(LRRC6):c.1050del (p.Gln351fs)deletion Pathogenic 540328 rs763900107 8:133622502-133622502 8:132610256-132610256
10 LRRC6 NM_012472.6(LRRC6):c.936_937del (p.Asp312fs)deletion Pathogenic 654068 8:133627321-133627322 8:132615075-132615076
11 LRRC6 NM_012472.6(LRRC6):c.10+1G>ASNV Pathogenic 652985 8:133687729-133687729 8:132675483-132675483
12 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
13 LRRC6 NM_012472.6(LRRC6):c.2T>A (p.Met1Lys)SNV Uncertain significance 540324 rs377278570 8:133687738-133687738 8:132675492-132675492
14 LRRC6 NM_012472.6(LRRC6):c.668G>A (p.Ser223Asn)SNV Uncertain significance 540326 rs1404624888 8:133637686-133637686 8:132625440-132625440
15 LRRC6 NM_012472.6(LRRC6):c.299T>C (p.Ile100Thr)SNV Uncertain significance 540329 rs139008774 8:133650311-133650311 8:132638065-132638065
16 LRRC6 NM_012472.6(LRRC6):c.1258C>A (p.Pro420Thr)SNV Uncertain significance 473105 rs1554667007 8:133584697-133584697 8:132572449-132572449
17 LRRC6 NM_012472.6(LRRC6):c.610G>A (p.Ala204Thr)SNV Uncertain significance 473107 rs772453135 8:133645029-133645029 8:132632783-132632783
18 LRRC6 NM_012472.6(LRRC6):c.949A>G (p.Ile317Val)SNV Uncertain significance 473109 rs146067670 8:133627309-133627309 8:132615063-132615063
19 LRRC6 NM_012472.6(LRRC6):c.1096A>G (p.Lys366Glu)SNV Uncertain significance 473103 rs201309011 8:133622456-133622456 8:132610210-132610210
20 LRRC6 NM_012472.6(LRRC6):c.1084_1086AGT[1] (p.Ser364del)short repeat Uncertain significance 473102 rs1554679225 8:133622463-133622465 8:132610217-132610219
21 LRRC6 NM_012472.6(LRRC6):c.675C>A (p.Asp225Glu)SNV Uncertain significance 473108 rs1056548399 8:133637679-133637679 8:132625433-132625433
22 LRRC6 NM_012472.6(LRRC6):c.27T>G (p.Ile9Met)SNV Uncertain significance 473106 rs200906172 8:133673857-133673857 8:132661611-132661611
23 LRRC6 NM_012472.6(LRRC6):c.802A>T (p.Met268Leu)SNV Uncertain significance 653541 8:133637552-133637552 8:132625306-132625306
24 LRRC6 NM_012472.6(LRRC6):c.914+3A>GSNV Uncertain significance 653492 8:133634854-133634854 8:132622608-132622608
25 LRRC6 NM_012472.6(LRRC6):c.837-10C>GSNV Uncertain significance 654860 8:133634944-133634944 8:132622698-132622698
26 LRRC6 NM_012472.6(LRRC6):c.1109C>G (p.Thr370Arg)SNV Uncertain significance 361902 rs148424037 8:133622443-133622443 8:132610197-132610197
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.1081G>A (p.Asp361Asn)SNV Uncertain significance 575268 rs1365254688 8:133622471-133622471 8:132610225-132610225
29 LRRC6 NM_012472.6(LRRC6):c.644A>G (p.Asn215Ser)SNV Uncertain significance 582972 rs143717300 8:133644995-133644995 8:132632749-132632749
30 LRRC6 NM_012472.6(LRRC6):c.525T>A (p.Asp175Glu)SNV Uncertain significance 570454 rs1316268216 8:133645114-133645114 8:132632868-132632868
31 LRRC6 NM_012472.6(LRRC6):c.472G>T (p.Ala158Ser)SNV Uncertain significance 570643 rs146136398 8:133645167-133645167 8:132632921-132632921
32 LRRC6 NM_012472.6(LRRC6):c.1294G>T (p.Val432Phe)SNV Uncertain significance 568271 rs770349365 8:133584661-133584661 8:132572413-132572413
33 LRRC6 NM_012472.6(LRRC6):c.1013C>T (p.Pro338Leu)SNV Uncertain significance 576562 rs140835420 8:133623571-133623571 8:132611325-132611325
34 LRRC6 NM_012472.6(LRRC6):c.1324C>T (p.Arg442Ter)SNV Uncertain significance 656966 8:133584631-133584631 8:132572383-132572383
35 LRRC6 NM_012472.6(LRRC6):c.1021G>T (p.Val341Leu)SNV Uncertain significance 662468 8:133623563-133623563 8:132611317-132611317
36 LRRC6 NM_012472.6(LRRC6):c.997G>A (p.Asp333Asn)SNV Uncertain significance 644077 8:133623587-133623587 8:132611341-132611341
37 LRRC6 NM_012472.6(LRRC6):c.989C>T (p.Ser330Phe)SNV Uncertain significance 640125 8:133623595-133623595 8:132611349-132611349
38 LRRC6 NM_012472.6(LRRC6):c.1140+10G>ASNV Likely benign 473104 rs371118771 8:133622402-133622402 8:132610156-132610156
39 LRRC6 NM_012472.6(LRRC6):c.873G>A (p.Leu291=)SNV Likely benign 540331 rs757257028 8:133634898-133634898 8:132622652-132622652
40 LRRC6 NM_012472.6(LRRC6):c.695C>T (p.Thr232Ile)SNV Benign 260278 rs2293979 8:133637659-133637659 8:132625413-132625413

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

Cellular components related to Ciliary Dyskinesia, Primary, 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 8.8 TSSK1B SPEF1 LRRC6

Molecular functions related to Ciliary Dyskinesia, Primary, 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.02 TSSK1B SUCLA2 FGFR3 CFTR CAMK4

Sources for Ciliary Dyskinesia, Primary, 19

3 CDC
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