CILD32
MCID: CLR117
MIFTS: 21

Ciliary Dyskinesia, Primary, 32 (CILD32)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 32

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 32:

Name: Ciliary Dyskinesia, Primary, 32 58 76 30 6
Cild32 58 12 76
Ciliary Dyskinesia, Primary, 32, Without Situs Inversus 58 76
Primary Ciliary Dyskinesia 32 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 32 41
Primary Ciliary Dyskinesia 32 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
no laterality defects
five unrelated patients have been reported (last curated july 2015)


HPO:

33
ciliary dyskinesia, primary, 32:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110603
OMIM 58 616481
MeSH 45 D007619
ICD10 34 Q34.8
SNOMED-CT via HPO 70 12295008 258211005 86204009

Summaries for Ciliary Dyskinesia, Primary, 32

OMIM : 58 Primary ciliary dyskinesia-32 is an autosomal recessive disorder caused by defective structure and function of cilia. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility. The ciliary defect affects the central pair complex and radial spokes of the 9+2 motile cilia; affected individuals do not have situs abnormalities (summary by Jeanson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (616481)

MalaCards based summary : Ciliary Dyskinesia, Primary, 32, is also known as cild32. An important gene associated with Ciliary Dyskinesia, Primary, 32 is RSPH3 (Radial Spoke Head 3). Related phenotypes are recurrent respiratory infections and neonatal respiratory distress

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has material basis in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.

UniProtKB/Swiss-Prot : 76 Ciliary dyskinesia, primary, 32: 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.

Related Diseases for Ciliary Dyskinesia, Primary, 32

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 32

Human phenotypes related to Ciliary Dyskinesia, Primary, 32:

33
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 33 HP:0002205
2 neonatal respiratory distress 33 HP:0002643
3 bronchiectasis 33 HP:0002110
4 ciliary dyskinesia 33 HP:0012265
5 immotile cilia 33 HP:0012263

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
neonatal respiratory distress
respiratory infections, recurrent

Head And Neck Ears:
otitis, recurrent

Respiratory Nasopharynx:
rhinosinusitis, recurrent

Genitourinary Internal Genitalia Female:
infertility due to ciliary defect

Respiratory Lung:
bronchiectasis

Laboratory Abnormalities:
immotile cilia
low nasal nitric oxide
increased percentage of cilia with absence of 1 or both central pair microtubules
increased percentage of disorganized cilia
decreased or absent radial spokes
more
Genitourinary External Genitalia Male:
infertility due to ciliary defect

Clinical features from OMIM:

616481

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 32

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 32

Genetic Tests for Ciliary Dyskinesia, Primary, 32

Genetic tests related to Ciliary Dyskinesia, Primary, 32:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 32 30 RSPH3

Anatomical Context for Ciliary Dyskinesia, Primary, 32

Publications for Ciliary Dyskinesia, Primary, 32

Variations for Ciliary Dyskinesia, Primary, 32

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 32:

6 (show top 50) (show all 100)
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPH3 NM_031924.5(RSPH3): c.616C> T (p.Gln206Ter) single nucleotide variant Pathogenic rs796052117 GRCh37 Chromosome 6, 159414885: 159414885
2 RSPH3 NM_031924.5(RSPH3): c.616C> T (p.Gln206Ter) single nucleotide variant Pathogenic rs796052117 GRCh38 Chromosome 6, 158993853: 158993853
3 RSPH3 NM_031924.5(RSPH3): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs796052118 GRCh37 Chromosome 6, 159401899: 159401899
4 RSPH3 NM_031924.5(RSPH3): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs796052118 GRCh38 Chromosome 6, 158980867: 158980867
5 RSPH3 NM_031924.5(RSPH3): c.1320_1323delTGAA (p.Asn440Lysfs) deletion Pathogenic rs875989825 GRCh37 Chromosome 6, 159399341: 159399344
6 RSPH3 NM_031924.5(RSPH3): c.1320_1323delTGAA (p.Asn440Lysfs) deletion Pathogenic rs875989825 GRCh38 Chromosome 6, 158978309: 158978312
7 RSPH3 NM_031924.5(RSPH3): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic rs796052119 GRCh38 Chromosome 6, 158982502: 158982502
8 RSPH3 NM_031924.5(RSPH3): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic rs796052119 GRCh37 Chromosome 6, 159403534: 159403534
9 RSPH3 NM_031924.5(RSPH3): c.631-2A> G single nucleotide variant Pathogenic rs142800871 GRCh37 Chromosome 6, 159407455: 159407455
10 RSPH3 NM_031924.5(RSPH3): c.631-2A> G single nucleotide variant Pathogenic rs142800871 GRCh38 Chromosome 6, 158986423: 158986423
11 RSPH3 NM_031924.5(RSPH3): c.1418A> C (p.His473Pro) single nucleotide variant Benign rs78116655 GRCh38 Chromosome 6, 158977803: 158977803
12 RSPH3 NM_031924.5(RSPH3): c.1418A> C (p.His473Pro) single nucleotide variant Benign rs78116655 GRCh37 Chromosome 6, 159398835: 159398835
13 RSPH3 NM_031924.5(RSPH3): c.1250G> C (p.Arg417Thr) single nucleotide variant Uncertain significance rs770525375 GRCh38 Chromosome 6, 158980809: 158980809
14 RSPH3 NM_031924.5(RSPH3): c.1250G> C (p.Arg417Thr) single nucleotide variant Uncertain significance rs770525375 GRCh37 Chromosome 6, 159401841: 159401841
15 RSPH3 NM_031924.5(RSPH3): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs772035250 GRCh38 Chromosome 6, 158982495: 158982495
16 RSPH3 NM_031924.5(RSPH3): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs772035250 GRCh37 Chromosome 6, 159403527: 159403527
17 RSPH3 NM_031924.5(RSPH3): c.637C> T (p.Arg213Trp) single nucleotide variant Benign rs41267753 GRCh38 Chromosome 6, 158986415: 158986415
18 RSPH3 NM_031924.5(RSPH3): c.637C> T (p.Arg213Trp) single nucleotide variant Benign rs41267753 GRCh37 Chromosome 6, 159407447: 159407447
19 RSPH3 NM_031924.5(RSPH3): c.226G> C (p.Ala76Pro) single nucleotide variant Likely benign rs138878442 GRCh38 Chromosome 6, 158999751: 158999751
20 RSPH3 NM_031924.5(RSPH3): c.226G> C (p.Ala76Pro) single nucleotide variant Likely benign rs138878442 GRCh37 Chromosome 6, 159420783: 159420783
21 RSPH3 NM_031924.5(RSPH3): c.1450G> A (p.Glu484Lys) single nucleotide variant Benign rs12204826 GRCh37 Chromosome 6, 159398803: 159398803
22 RSPH3 NM_031924.5(RSPH3): c.1450G> A (p.Glu484Lys) single nucleotide variant Benign rs12204826 GRCh38 Chromosome 6, 158977771: 158977771
23 RSPH3 NM_031924.5(RSPH3): c.1382G> A (p.Arg461His) single nucleotide variant Benign rs147880570 GRCh37 Chromosome 6, 159398871: 159398871
24 RSPH3 NM_031924.5(RSPH3): c.1382G> A (p.Arg461His) single nucleotide variant Benign rs147880570 GRCh38 Chromosome 6, 158977839: 158977839
25 RSPH3 NM_031924.5(RSPH3): c.1193G> A (p.Arg398Gln) single nucleotide variant Benign rs10455840 GRCh37 Chromosome 6, 159401898: 159401898
26 RSPH3 NM_031924.5(RSPH3): c.1193G> A (p.Arg398Gln) single nucleotide variant Benign rs10455840 GRCh38 Chromosome 6, 158980866: 158980866
27 RSPH3 NM_031924.5(RSPH3): c.729A> G (p.Thr243=) single nucleotide variant Benign rs34756688 GRCh37 Chromosome 6, 159407355: 159407355
28 RSPH3 NM_031924.5(RSPH3): c.729A> G (p.Thr243=) single nucleotide variant Benign rs34756688 GRCh38 Chromosome 6, 158986323: 158986323
29 RSPH3 NM_031924.5(RSPH3): c.567A> G (p.Gly189=) single nucleotide variant Benign rs116017511 GRCh38 Chromosome 6, 158993902: 158993902
30 RSPH3 NM_031924.5(RSPH3): c.567A> G (p.Gly189=) single nucleotide variant Benign rs116017511 GRCh37 Chromosome 6, 159414934: 159414934
31 RSPH3 NM_031924.5(RSPH3): c.464C> G (p.Pro155Arg) single nucleotide variant Benign rs61750776 GRCh37 Chromosome 6, 159420545: 159420545
32 RSPH3 NM_031924.5(RSPH3): c.464C> G (p.Pro155Arg) single nucleotide variant Benign rs61750776 GRCh38 Chromosome 6, 158999513: 158999513
33 RSPH3 NM_031924.5(RSPH3): c.291C> T (p.Pro97=) single nucleotide variant Likely benign rs549752682 GRCh37 Chromosome 6, 159420718: 159420718
34 RSPH3 NM_031924.5(RSPH3): c.291C> T (p.Pro97=) single nucleotide variant Likely benign rs549752682 GRCh38 Chromosome 6, 158999686: 158999686
35 RSPH3 NM_031924.5(RSPH3): c.274C> T (p.Pro92Ser) single nucleotide variant Likely benign rs41267755 GRCh38 Chromosome 6, 158999703: 158999703
36 RSPH3 NM_031924.5(RSPH3): c.274C> T (p.Pro92Ser) single nucleotide variant Likely benign rs41267755 GRCh37 Chromosome 6, 159420735: 159420735
37 RSPH3 NM_031924.5(RSPH3): c.207C> A (p.Pro69=) single nucleotide variant Benign rs41267757 GRCh38 Chromosome 6, 158999770: 158999770
38 RSPH3 NM_031924.5(RSPH3): c.207C> A (p.Pro69=) single nucleotide variant Benign rs41267757 GRCh37 Chromosome 6, 159420802: 159420802
39 RSPH3 NM_031924.5(RSPH3): c.1562A> G (p.Gln521Arg) single nucleotide variant Benign rs144678437 GRCh38 Chromosome 6, 158977659: 158977659
40 RSPH3 NM_031924.5(RSPH3): c.1562A> G (p.Gln521Arg) single nucleotide variant Benign rs144678437 GRCh37 Chromosome 6, 159398691: 159398691
41 RSPH3 NM_031924.5(RSPH3): c.800G> A (p.Arg267His) single nucleotide variant Likely benign rs556783606 GRCh38 Chromosome 6, 158983780: 158983780
42 RSPH3 NM_031924.5(RSPH3): c.800G> A (p.Arg267His) single nucleotide variant Likely benign rs556783606 GRCh37 Chromosome 6, 159404812: 159404812
43 RSPH3 NM_031924.5(RSPH3): c.669G> A (p.Arg223=) single nucleotide variant Benign rs34725942 GRCh38 Chromosome 6, 158986383: 158986383
44 RSPH3 NM_031924.5(RSPH3): c.669G> A (p.Arg223=) single nucleotide variant Benign rs34725942 GRCh37 Chromosome 6, 159407415: 159407415
45 RSPH3 NM_031924.5(RSPH3): c.668G> A (p.Arg223Gln) single nucleotide variant Benign rs41267751 GRCh38 Chromosome 6, 158986384: 158986384
46 RSPH3 NM_031924.5(RSPH3): c.668G> A (p.Arg223Gln) single nucleotide variant Benign rs41267751 GRCh37 Chromosome 6, 159407416: 159407416
47 RSPH3 NM_031924.5(RSPH3): c.461C> T (p.Ala154Val) single nucleotide variant Benign rs61750777 GRCh38 Chromosome 6, 158999516: 158999516
48 RSPH3 NM_031924.5(RSPH3): c.461C> T (p.Ala154Val) single nucleotide variant Benign rs61750777 GRCh37 Chromosome 6, 159420548: 159420548
49 RSPH3 NM_031924.5(RSPH3): c.229G> A (p.Gly77Arg) single nucleotide variant Uncertain significance rs199715125 GRCh38 Chromosome 6, 158999748: 158999748
50 RSPH3 NM_031924.5(RSPH3): c.229G> A (p.Gly77Arg) single nucleotide variant Uncertain significance rs199715125 GRCh37 Chromosome 6, 159420780: 159420780

Expression for Ciliary Dyskinesia, Primary, 32

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 32.

Pathways for Ciliary Dyskinesia, Primary, 32

GO Terms for Ciliary Dyskinesia, Primary, 32

Sources for Ciliary Dyskinesia, Primary, 32

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