CILD19
MCID: CLR095
MIFTS: 22

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 75 29 13 6 73
Cild19 57 12 75
Primary Ciliary Dyskinesia 19 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 19, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 19 40
Primary Ciliary Dyskinesia 19 12
Immotile Cilia Syndrome 19 75
Ics19 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

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


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 19

UniProtKB/Swiss-Prot : 75 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 recurrent otitis media and infertility

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

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 infections, recurrent
respiratory insufficiency due to defective ciliary clearance

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

Human phenotypes related to Ciliary Dyskinesia, Primary, 19:

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

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

Variations for Ciliary Dyskinesia, Primary, 19

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

75
# Symbol AA change Variation ID SNP ID
1 LRRC6 p.Ala74Pro VAR_069038 rs397514596
2 LRRC6 p.Asp146His VAR_069039 rs200321595

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

6 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRRC6 NM_012472.5(LRRC6): c.576dupA (p.Glu193Argfs) duplication Pathogenic rs397515425 GRCh37 Chromosome 8, 133645063: 133645063
2 LRRC6 NM_012472.5(LRRC6): c.598_599delAA (p.Lys200Glufs) deletion Pathogenic rs397515424 GRCh37 Chromosome 8, 133645040: 133645041
3 LRRC6 NM_012472.5(LRRC6): c.598_599delAA (p.Lys200Glufs) deletion Pathogenic rs397515424 GRCh38 Chromosome 8, 132632794: 132632795
4 LRRC6 NM_012472.5(LRRC6): c.574C> T (p.Gln192Ter) single nucleotide variant Pathogenic rs141945265 GRCh37 Chromosome 8, 133645065: 133645065
5 LRRC6 NM_012472.5(LRRC6): c.574C> T (p.Gln192Ter) single nucleotide variant Pathogenic rs141945265 GRCh38 Chromosome 8, 132632819: 132632819
6 LRRC6 NM_012472.5(LRRC6): c.576dupA (p.Glu193Argfs) duplication Pathogenic rs397515425 GRCh38 Chromosome 8, 132632817: 132632817
7 LRRC6 NM_012472.5(LRRC6): c.220G> C (p.Ala74Pro) single nucleotide variant Pathogenic rs397514596 GRCh37 Chromosome 8, 133669112: 133669112
8 LRRC6 NM_012472.5(LRRC6): c.220G> C (p.Ala74Pro) single nucleotide variant Pathogenic rs397514596 GRCh38 Chromosome 8, 132656866: 132656866
9 LRRC6 NM_012472.5(LRRC6): c.436G> C (p.Asp146His) single nucleotide variant Pathogenic rs200321595 GRCh37 Chromosome 8, 133645203: 133645203
10 LRRC6 NM_012472.5(LRRC6): c.436G> C (p.Asp146His) single nucleotide variant Pathogenic rs200321595 GRCh38 Chromosome 8, 132632957: 132632957
11 LRRC6 NM_012472.5(LRRC6): c.562C> T (p.Gln188Ter) single nucleotide variant Pathogenic rs397515461 GRCh38 Chromosome 8, 132632831: 132632831
12 LRRC6 NM_012472.5(LRRC6): c.562C> T (p.Gln188Ter) single nucleotide variant Pathogenic rs397515461 GRCh37 Chromosome 8, 133645077: 133645077
13 LRRC6 NM_012472.5(LRRC6): c.630delG (p.Trp210Cysfs) deletion Pathogenic rs760123202 GRCh37 Chromosome 8, 133645009: 133645009
14 LRRC6 NM_012472.5(LRRC6): c.630delG (p.Trp210Cysfs) deletion Pathogenic rs760123202 GRCh38 Chromosome 8, 132632763: 132632763
15 LRRC6 NM_012472.5(LRRC6): c.1343T> C (p.Ile448Thr) single nucleotide variant Benign rs78620801 GRCh37 Chromosome 8, 133584612: 133584612
16 LRRC6 NM_012472.5(LRRC6): c.1343T> C (p.Ile448Thr) single nucleotide variant Benign rs78620801 GRCh38 Chromosome 8, 132572364: 132572364
17 LRRC6 NM_012472.5(LRRC6): c.1245A> G (p.Lys415=) single nucleotide variant Conflicting interpretations of pathogenicity rs149631064 GRCh37 Chromosome 8, 133584710: 133584710
18 LRRC6 NM_012472.5(LRRC6): c.1245A> G (p.Lys415=) single nucleotide variant Conflicting interpretations of pathogenicity rs149631064 GRCh38 Chromosome 8, 132572462: 132572462
19 LRRC6 NM_012472.5(LRRC6): c.1162G> A (p.Gly388Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs77289466 GRCh37 Chromosome 8, 133596005: 133596005
20 LRRC6 NM_012472.5(LRRC6): c.1162G> A (p.Gly388Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs77289466 GRCh38 Chromosome 8, 132583758: 132583758
21 LRRC6 NM_012472.5(LRRC6): c.695C> T (p.Thr232Ile) single nucleotide variant Benign rs2293979 GRCh38 Chromosome 8, 132625413: 132625413
22 LRRC6 NM_012472.5(LRRC6): c.695C> T (p.Thr232Ile) single nucleotide variant Benign rs2293979 GRCh37 Chromosome 8, 133637659: 133637659
23 LRRC6 NM_012472.5(LRRC6): c.609C> T (p.Asn203=) single nucleotide variant Benign/Likely benign rs35956157 GRCh37 Chromosome 8, 133645030: 133645030
24 LRRC6 NM_012472.5(LRRC6): c.609C> T (p.Asn203=) single nucleotide variant Benign/Likely benign rs35956157 GRCh38 Chromosome 8, 132632784: 132632784
25 LRRC6 NM_012472.5(LRRC6): c.283C> T (p.Leu95=) single nucleotide variant Benign/Likely benign rs74599901 GRCh38 Chromosome 8, 132638081: 132638081
26 LRRC6 NM_012472.5(LRRC6): c.283C> T (p.Leu95=) single nucleotide variant Benign/Likely benign rs74599901 GRCh37 Chromosome 8, 133650327: 133650327
27 LRRC6 NM_012472.5(LRRC6): c.1109C> G (p.Thr370Arg) single nucleotide variant Uncertain significance rs148424037 GRCh37 Chromosome 8, 133622443: 133622443
28 LRRC6 NM_012472.5(LRRC6): c.1109C> G (p.Thr370Arg) single nucleotide variant Uncertain significance rs148424037 GRCh38 Chromosome 8, 132610197: 132610197
29 LRRC6 NM_012472.5(LRRC6): c.611C> T (p.Ala204Val) single nucleotide variant Uncertain significance rs376633613 GRCh37 Chromosome 8, 133645028: 133645028
30 LRRC6 NM_012472.5(LRRC6): c.611C> T (p.Ala204Val) single nucleotide variant Uncertain significance rs376633613 GRCh38 Chromosome 8, 132632782: 132632782
31 LRRC6 NM_012472.5(LRRC6): c.1140+10G> A single nucleotide variant Likely benign rs371118771 GRCh37 Chromosome 8, 133622402: 133622402
32 LRRC6 NM_012472.5(LRRC6): c.1140+10G> A single nucleotide variant Likely benign rs371118771 GRCh38 Chromosome 8, 132610156: 132610156
33 LRRC6 NM_012472.5(LRRC6): c.1258C> A (p.Pro420Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 133584697: 133584697
34 LRRC6 NM_012472.5(LRRC6): c.1258C> A (p.Pro420Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 132572449: 132572449
35 LRRC6 NM_012472.5(LRRC6): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs772453135 GRCh38 Chromosome 8, 132632783: 132632783
36 LRRC6 NM_012472.5(LRRC6): c.610G> A (p.Ala204Thr) single nucleotide variant Uncertain significance rs772453135 GRCh37 Chromosome 8, 133645029: 133645029
37 LRRC6 NM_012472.5(LRRC6): c.949A> G (p.Ile317Val) single nucleotide variant Uncertain significance rs146067670 GRCh37 Chromosome 8, 133627309: 133627309
38 LRRC6 NM_012472.5(LRRC6): c.949A> G (p.Ile317Val) single nucleotide variant Uncertain significance rs146067670 GRCh38 Chromosome 8, 132615063: 132615063
39 LRRC6 NM_012472.5(LRRC6): c.1096A> G (p.Lys366Glu) single nucleotide variant Uncertain significance rs201309011 GRCh37 Chromosome 8, 133622456: 133622456
40 LRRC6 NM_012472.5(LRRC6): c.1096A> G (p.Lys366Glu) single nucleotide variant Uncertain significance rs201309011 GRCh38 Chromosome 8, 132610210: 132610210
41 LRRC6 NM_012472.5(LRRC6): c.1087_1089delAGT (p.Ser364del) deletion Uncertain significance GRCh38 Chromosome 8, 132610217: 132610219
42 LRRC6 NM_012472.5(LRRC6): c.1087_1089delAGT (p.Ser364del) deletion Uncertain significance GRCh37 Chromosome 8, 133622463: 133622465
43 LRRC6 NM_012472.5(LRRC6): c.675C> A (p.Asp225Glu) single nucleotide variant Uncertain significance rs1056548399 GRCh37 Chromosome 8, 133637679: 133637679
44 LRRC6 NM_012472.5(LRRC6): c.675C> A (p.Asp225Glu) single nucleotide variant Uncertain significance rs1056548399 GRCh38 Chromosome 8, 132625433: 132625433
45 LRRC6 NM_012472.5(LRRC6): c.27T> G (p.Ile9Met) single nucleotide variant Uncertain significance rs200906172 GRCh37 Chromosome 8, 133673857: 133673857
46 LRRC6 NM_012472.5(LRRC6): c.27T> G (p.Ile9Met) single nucleotide variant Uncertain significance rs200906172 GRCh38 Chromosome 8, 132661611: 132661611
47 LRRC6 NM_012472.5(LRRC6): c.633C> A (p.Tyr211Ter) single nucleotide variant Pathogenic rs750603177 GRCh37 Chromosome 8, 133645006: 133645006
48 LRRC6 NM_012472.5(LRRC6): c.633C> A (p.Tyr211Ter) single nucleotide variant Pathogenic rs750603177 GRCh38 Chromosome 8, 132632760: 132632760
49 LRRC6 NM_012472.5(LRRC6): c.79_80del (p.Ser27Valfs) deletion Pathogenic GRCh38 Chromosome 8, 132661558: 132661559
50 LRRC6 NM_012472.5(LRRC6): c.79_80del (p.Ser27Valfs) deletion Pathogenic GRCh37 Chromosome 8, 133673804: 133673805

Expression for Ciliary Dyskinesia, Primary, 19

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Pathways for Ciliary Dyskinesia, Primary, 19

GO Terms for Ciliary Dyskinesia, Primary, 19

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