CILD19
MCID: CLR095
MIFTS: 26

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 57 74 29 13 6 72
Cild19 57 12 74
Primary Ciliary Dyskinesia 19 with or Without Situs Inversus 12 74
Ciliary Dyskinesia, Primary, 19, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 19 40
Primary Ciliary Dyskinesia 19 12
Immotile Cilia Syndrome 19 74
Ics19 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

32
ciliary dyskinesia, primary, 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110608
MeSH 44 D007619
ICD10 33 Q34.8
UMLS 72 C3543826

Summaries for Ciliary Dyskinesia, Primary, 19

UniProtKB/Swiss-Prot : 74 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, is also known as cild19. 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 : 57 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

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 19

Human phenotypes related to Ciliary Dyskinesia, Primary, 19:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 32 frequent (33%) HP:0001696
2 recurrent otitis media 32 HP:0000403
3 infertility 32 HP:0000789
4 nasal polyposis 32 HP:0100582
5 bronchiectasis 32 HP:0002110
6 immotile cilia 32 HP:0012263
7 chronic bronchitis 32 HP:0004469
8 rhinitis 32 HP:0012384
9 reduced sperm motility 32 HP:0012207
10 ciliary dyskinesia 32 HP:0012265
11 recurrent sinusitis 32 HP:0011108
12 absent inner and outer dynein arms 32 HP:0012259
13 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073

Symptoms via clinical synopsis from OMIM:

57
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

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. 8 71
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. 8 71
23122589 2012
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
6
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 19

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

6 (show all 47)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LRRC6 NM_012472.6(LRRC6): c.633C> A (p.Tyr211Ter) single nucleotide variant Pathogenic rs750603177 8:133645006-133645006 8:132632760-132632760
2 LRRC6 NM_012472.6(LRRC6): c.598_599del (p.Lys200fs) deletion Pathogenic rs397515424 8:133645040-133645041 8:132632794-132632795
3 LRRC6 NM_012472.6(LRRC6): c.574C> T (p.Gln192Ter) single nucleotide variant Pathogenic rs141945265 8:133645065-133645065 8:132632819-132632819
4 LRRC6 NM_012472.6(LRRC6): c.576dup (p.Glu193fs) duplication Pathogenic rs397515425 8:133645063-133645063 8:132632817-132632817
5 LRRC6 NM_012472.6(LRRC6): c.220G> C (p.Ala74Pro) single nucleotide variant Pathogenic rs397514596 8:133669112-133669112 8:132656866-132656866
6 LRRC6 NM_012472.6(LRRC6): c.436G> C (p.Asp146His) single nucleotide variant Pathogenic rs200321595 8:133645203-133645203 8:132632957-132632957
7 LRRC6 NM_012472.6(LRRC6): c.562C> T (p.Gln188Ter) single nucleotide variant Pathogenic rs397515461 8:133645077-133645077 8:132632831-132632831
8 LRRC6 NM_012472.6(LRRC6): c.630del (p.Trp210fs) deletion Pathogenic rs760123202 8:133645009-133645009 8:132632763-132632763
9 LRRC6 NM_012472.6(LRRC6): c.1050del (p.Gln351fs) deletion Pathogenic rs763900107 8:133622502-133622502 8:132610256-132610256
10 LRRC6 NM_012472.6(LRRC6): c.936_937del (p.Asp312fs) deletion Pathogenic 8:133627321-133627322 8:132615076-132615077
11 LRRC6 NM_012472.6(LRRC6): c.10+1G> A single nucleotide variant Pathogenic 8:133687729-133687729 8:132675483-132675483
12 LRRC6 NM_012472.6(LRRC6): c.1245A> G (p.Lys415=) single nucleotide variant Conflicting interpretations of pathogenicity rs149631064 8:133584710-133584710 8:132572462-132572462
13 LRRC6 NM_012472.6(LRRC6): c.1162G> A (p.Gly388Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs77289466 8:133596005-133596005 8:132583758-132583758
14 LRRC6 NM_012472.6(LRRC6): c.77_78TC[1] (p.Ser27fs) short repeat Conflicting interpretations of pathogenicity rs769220870 8:133673804-133673805 8:132661558-132661559
15 LRRC6 NM_012472.6(LRRC6): c.2T> A (p.Met1Lys) single nucleotide variant Uncertain significance rs377278570 8:133687738-133687738 8:132675492-132675492
16 LRRC6 NM_012472.6(LRRC6): c.668G> A (p.Ser223Asn) single nucleotide variant Uncertain significance rs1404624888 8:133637686-133637686 8:132625440-132625440
17 LRRC6 NM_012472.6(LRRC6): c.1258C> A (p.Pro420Thr) single nucleotide variant Uncertain significance rs1554667007 8:133584697-133584697 8:132572449-132572449
18 LRRC6 NM_012472.6(LRRC6): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs772453135 8:133645029-133645029 8:132632783-132632783
19 LRRC6 NM_012472.6(LRRC6): c.949A> G (p.Ile317Val) single nucleotide variant Uncertain significance rs146067670 8:133627309-133627309 8:132615063-132615063
20 LRRC6 NM_012472.6(LRRC6): c.1096A> G (p.Lys366Glu) single nucleotide variant Uncertain significance rs201309011 8:133622456-133622456 8:132610210-132610210
21 LRRC6 NM_012472.6(LRRC6): c.1084_1086AGT[1] (p.Ser364del) short repeat Uncertain significance rs1554679225 8:133622463-133622465 8:132610217-132610219
22 LRRC6 NM_012472.6(LRRC6): c.675C> A (p.Asp225Glu) single nucleotide variant Uncertain significance rs1056548399 8:133637679-133637679 8:132625433-132625433
23 LRRC6 NM_012472.6(LRRC6): c.27T> G (p.Ile9Met) single nucleotide variant Uncertain significance rs200906172 8:133673857-133673857 8:132661611-132661611
24 LRRC6 NM_012472.6(LRRC6): c.1109C> G (p.Thr370Arg) single nucleotide variant Uncertain significance rs148424037 8:133622443-133622443 8:132610197-132610197
25 LRRC6 NM_012472.6(LRRC6): c.611C> T (p.Ala204Val) single nucleotide variant Uncertain significance rs376633613 8:133645028-133645028 8:132632782-132632782
26 LRRC6 NM_012472.6(LRRC6): c.1081G> A (p.Asp361Asn) single nucleotide variant Uncertain significance 8:133622471-133622471 8:132610225-132610225
27 LRRC6 NM_012472.6(LRRC6): c.644A> G (p.Asn215Ser) single nucleotide variant Uncertain significance 8:133644995-133644995 8:132632749-132632749
28 LRRC6 NM_012472.6(LRRC6): c.525T> A (p.Asp175Glu) single nucleotide variant Uncertain significance 8:133645114-133645114 8:132632868-132632868
29 LRRC6 NM_012472.6(LRRC6): c.472G> T (p.Ala158Ser) single nucleotide variant Uncertain significance 8:133645167-133645167 8:132632921-132632921
30 LRRC6 NM_012472.6(LRRC6): c.1294G> T (p.Val432Phe) single nucleotide variant Uncertain significance 8:133584661-133584661 8:132572413-132572413
31 LRRC6 NM_012472.6(LRRC6): c.1013C> T (p.Pro338Leu) single nucleotide variant Uncertain significance 8:133623571-133623571 8:132611325-132611325
32 LRRC6 NM_012472.6(LRRC6): c.1324C> T (p.Arg442Ter) single nucleotide variant Uncertain significance 8:133584631-133584631 8:132572383-132572383
33 LRRC6 NM_012472.6(LRRC6): c.1021G> T (p.Val341Leu) single nucleotide variant Uncertain significance 8:133623563-133623563 8:132611317-132611317
34 LRRC6 NM_012472.6(LRRC6): c.997G> A (p.Asp333Asn) single nucleotide variant Uncertain significance 8:133623587-133623587 8:132611341-132611341
35 LRRC6 NM_012472.6(LRRC6): c.989C> T (p.Ser330Phe) single nucleotide variant Uncertain significance 8:133623595-133623595 8:132611349-132611349
36 LRRC6 NM_012472.6(LRRC6): c.299T> C (p.Ile100Thr) single nucleotide variant Uncertain significance rs139008774 8:133650311-133650311 8:132638065-132638065
37 LRRC6 NM_012472.6(LRRC6): c.802A> T (p.Met268Leu) single nucleotide variant Uncertain significance 8:133637552-133637552 8:132625306-132625306
38 LRRC6 NM_012472.6(LRRC6): c.914+3A> G single nucleotide variant Uncertain significance 8:133634854-133634854 8:132622608-132622608
39 LRRC6 NM_012472.6(LRRC6): c.837-10C> G single nucleotide variant Uncertain significance 8:133634944-133634944 8:132622698-132622698
40 LRRC6 NM_012472.6(LRRC6): c.1140+10G> A single nucleotide variant Likely benign rs371118771 8:133622402-133622402 8:132610156-132610156
41 LRRC6 NM_012472.6(LRRC6): c.873G> A (p.Leu291=) single nucleotide variant Likely benign rs757257028 8:133634898-133634898 8:132622652-132622652
42 LRRC6 NM_012472.6(LRRC6): c.574C> G (p.Gln192Glu) single nucleotide variant Likely benign rs141945265 8:133645065-133645065 8:132632819-132632819
43 LRRC6 NM_012472.6(LRRC6): c.609C> T (p.Asn203=) single nucleotide variant Benign/Likely benign rs35956157 8:133645030-133645030 8:132632784-132632784
44 LRRC6 NM_012472.6(LRRC6): c.283C> T (p.Leu95=) single nucleotide variant Benign/Likely benign rs74599901 8:133650327-133650327 8:132638081-132638081
45 LRRC6 NM_012472.6(LRRC6): c.1343T> C (p.Ile448Thr) single nucleotide variant Benign rs78620801 8:133584612-133584612 8:132572364-132572364
46 LRRC6 NM_012472.6(LRRC6): c.863C> A (p.Pro288His) single nucleotide variant Benign rs76147813 8:133634908-133634908 8:132622662-132622662
47 LRRC6 NM_012472.6(LRRC6): c.695C> T (p.Thr232Ile) single nucleotide variant Benign rs2293979 8:133637659-133637659 8:132625413-132625413

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

74
# 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

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