CILD32
MCID: CLR117
MIFTS: 24

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 56 73 29 6
Cild32 56 12 73
Ciliary Dyskinesia, Primary, 32, Without Situs Inversus 56 73
Primary Ciliary Dyskinesia 32 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 32 39
Primary Ciliary Dyskinesia 32 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
ciliary dyskinesia, primary, 32:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110603
OMIM 56 616481
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8

Summaries for Ciliary Dyskinesia, Primary, 32

OMIM : 56 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 : 73 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 neonatal respiratory distress 31 HP:0002643
3 infertility 31 HP:0000789
4 bronchiectasis 31 HP:0002110
5 immotile cilia 31 HP:0012263
6 ciliary dyskinesia 31 HP:0012265

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
neonatal respiratory distress
respiratory infections, recurrent

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
Respiratory Nasopharynx:
rhinosinusitis, recurrent

Genitourinary Internal Genitalia Female:
infertility due to ciliary defect

Respiratory Lung:
bronchiectasis

Head And Neck Ears:
otitis, recurrent

Genitourinary Internal 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 29 RSPH3

Anatomical Context for Ciliary Dyskinesia, Primary, 32

Publications for Ciliary Dyskinesia, Primary, 32

Articles related to Ciliary Dyskinesia, Primary, 32:

# Title Authors PMID Year
1
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. 56 6
26073779 2015
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
5
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 32

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

6 (show top 50) (show all 52) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RSPH3 NM_001346418.1(RSPH3):c.616C>T (p.Gln206Ter)SNV Pathogenic 204498 rs796052117 6:159414885-159414885 6:158993853-158993853
2 RSPH3 NM_001346418.1(RSPH3):c.904C>T (p.Arg302Ter)SNV Pathogenic 204500 rs796052118 6:159401899-159401899 6:158980867-158980867
3 RSPH3 NM_001346418.1(RSPH3):c.1028_1031TGAA[1] (p.Asn344fs)short repeat Pathogenic 204501 rs875989825 6:159399341-159399344 6:158978309-158978312
4 RSPH3 NM_001346418.1(RSPH3):c.817C>T (p.Arg273Ter)SNV Pathogenic 204502 rs796052119 6:159403534-159403534 6:158982502-158982502
5 RSPH3 NM_031924.5(RSPH3):c.631-2A>GSNV Pathogenic 209010 rs142800871 6:159407455-159407455 6:158986423-158986423
6 RSPH3 NM_031924.5(RSPH3):c.1111C>T (p.Arg371Ter)SNV Pathogenic 570047 rs1158185476 6:159403528-159403528 6:158982496-158982496
7 RSPH3 NM_031924.4:c.595C>TSNV Pathogenic 650363 6:159414906-159414906 6:158993874-158993874
8 RSPH3 NM_001346418.1(RSPH3):c.220_221TG[1] (p.Cys74fs)short repeat Pathogenic 646115 6:159420786-159420787 6:158999754-158999755
9 RSPH3 NC_000006.11:g.(?_159401786)_(159407473_?)deldeletion Pathogenic 665656 6:159401786-159407473 6:158980754-158986441
10 RSPH3 NM_031924.4:c.203C>ASNV Uncertain significance 660350 6:159420806-159420806 6:158999774-158999774
11 RSPH3 NM_031924.4:c.41A>GSNV Uncertain significance 645936 6:159420968-159420968 6:158999936-158999936
12 RSPH3 NM_031924.4:c.13C>GSNV Uncertain significance 651414 6:159420996-159420996 6:158999964-158999964
13 RSPH3 NM_031924.5(RSPH3):c.974C>T (p.Thr325Ile)SNV Uncertain significance 581708 rs201137146 6:159403665-159403665 6:158982633-158982633
14 RSPH3 NM_031924.5(RSPH3):c.44T>G (p.Leu15Arg)SNV Uncertain significance 572130 rs147256615 6:159420965-159420965 6:158999933-158999933
15 RSPH3 NM_031924.4:c.1645G>ASNV Uncertain significance 657841 6:159398608-159398608 6:158977576-158977576
16 RSPH3 NM_031924.4:c.1337T>CSNV Uncertain significance 649011 6:159399327-159399327 6:158978295-158978295
17 RSPH3 NM_031924.4:c.1277T>CSNV Uncertain significance 646621 6:159401814-159401814 6:158980782-158980782
18 RSPH3 NM_001346418.1(RSPH3):c.877_879del (p.Asn293del)deletion Uncertain significance 658079 6:159401924-159401926 6:158980892-158980894
19 RSPH3 NM_031924.4:c.928T>CSNV Uncertain significance 657722 6:159403711-159403711 6:158982679-158982679
20 RSPH3 NM_031924.5(RSPH3):c.1366C>T (p.Leu456Phe)SNV Uncertain significance 567706 rs1562558137 6:159399298-159399298 6:158978266-158978266
21 RSPH3 NM_031924.5(RSPH3):c.1057C>T (p.Arg353Trp)SNV Uncertain significance 566567 rs755822557 6:159403582-159403582 6:158982550-158982550
22 RSPH3 NM_031924.5(RSPH3):c.1040G>A (p.Arg347His)SNV Uncertain significance 573258 rs754501725 6:159403599-159403599 6:158982567-158982567
23 RSPH3 NM_031924.5(RSPH3):c.997G>A (p.Val333Ile)SNV Uncertain significance 572370 rs147697861 6:159403642-159403642 6:158982610-158982610
24 RSPH3 NM_031924.5(RSPH3):c.242G>A (p.Ser81Asn)SNV Uncertain significance 579646 rs1335094606 6:159420767-159420767 6:158999735-158999735
25 RSPH3 NM_031924.5(RSPH3):c.1586C>T (p.Ser529Leu)SNV Uncertain significance 574980 rs1280733586 6:159398667-159398667 6:158977635-158977635
26 RSPH3 NM_031924.5(RSPH3):c.1217C>T (p.Ala406Val)SNV Uncertain significance 568995 rs150750790 6:159401874-159401874 6:158980842-158980842
27 RSPH3 NM_031924.5(RSPH3):c.1129C>T (p.Arg377Cys)SNV Uncertain significance 566228 rs778108869 6:159401962-159401962 6:158980930-158980930
28 RSPH3 NM_031924.5(RSPH3):c.1046A>G (p.Tyr349Cys)SNV Uncertain significance 572046 rs1562560893 6:159403593-159403593 6:158982561-158982561
29 RSPH3 NM_031924.5(RSPH3):c.1250G>C (p.Arg417Thr)SNV Uncertain significance 475821 rs770525375 6:159401841-159401841 6:158980809-158980809
30 RSPH3 NM_031924.5(RSPH3):c.1112G>A (p.Arg371Gln)SNV Uncertain significance 475819 rs772035250 6:159403527-159403527 6:158982495-158982495
31 RSPH3 NM_031924.5(RSPH3):c.229G>A (p.Gly77Arg)SNV Uncertain significance 475829 rs199715125 6:159420780-159420780 6:158999748-158999748
32 RSPH3 NM_031924.5(RSPH3):c.208G>T (p.Ala70Ser)SNV Uncertain significance 475827 rs753412130 6:159420801-159420801 6:158999769-158999769
33 RSPH3 NM_031924.5(RSPH3):c.418C>T (p.Pro140Ser)SNV Uncertain significance 542465 rs1258329279 6:159420591-159420591 6:158999559-158999559
34 RSPH3 NM_031924.5(RSPH3):c.631C>T (p.Leu211Phe)SNV Uncertain significance 542471 rs372887350 6:159407453-159407453 6:158986421-158986421
35 RSPH3 NM_031924.5(RSPH3):c.895G>C (p.Ala299Pro)SNV Uncertain significance 542473 rs138202910 6:159404717-159404717 6:158983685-158983685
36 RSPH3 NM_031924.5(RSPH3):c.542+3G>ASNV Uncertain significance 542464 rs1554291596 6:159420464-159420464 6:158999432-158999432
37 RSPH3 NM_031924.5(RSPH3):c.436G>A (p.Ala146Thr)SNV Uncertain significance 542466 rs1395283062 6:159420573-159420573 6:158999541-158999541
38 RSPH3 NM_031924.4(RSPH3):c.1127G>A (p.Arg376Gln)SNV Uncertain significance 542470 rs149769974 6:159401964-159401964 6:158980932-158980932
39 RSPH3 NM_031924.5(RSPH3):c.1285+5G>ASNV Uncertain significance 542467 rs545361014 6:159401801-159401801 6:158980769-158980769
40 RSPH3 NM_031924.4(RSPH3):c.978T>G (p.Ile326Met)SNV Uncertain significance 542469 rs141317681 6:159403661-159403661 6:158982629-158982629
41 RSPH3 NM_031924.4(RSPH3):c.379T>A (p.Cys127Ser)SNV Uncertain significance 542472 rs151230376 6:159420630-159420630 6:158999598-158999598
42 RSPH3 NM_031924.5(RSPH3):c.205C>T (p.Pro69Ser)SNV Uncertain significance 542468 rs752628369 6:159420804-159420804 6:158999772-158999772
43 RSPH3 NM_031924.5(RSPH3):c.31C>T (p.Leu11=)SNV Likely benign 542475 rs1554291758 6:159420978-159420978 6:158999946-158999946
44 RSPH3 NM_031924.5(RSPH3):c.226G>C (p.Ala76Pro)SNV Likely benign 475828 rs138878442 6:159420783-159420783 6:158999751-158999751
45 RSPH3 NM_031924.5(RSPH3):c.291C>T (p.Pro97=)SNV Likely benign 475831 rs549752682 6:159420718-159420718 6:158999686-158999686
46 RSPH3 NM_031924.5(RSPH3):c.207C>A (p.Pro69=)SNV Benign 475826 rs41267757 6:159420802-159420802 6:158999770-158999770
47 RSPH3 NM_031924.5(RSPH3):c.669G>A (p.Arg223=)SNV Benign 475837 rs34725942 6:159407415-159407415 6:158986383-158986383
48 RSPH3 NM_031924.5(RSPH3):c.1450G>A (p.Glu484Lys)SNV Benign 475824 rs12204826 6:159398803-159398803 6:158977771-158977771
49 RSPH3 NM_031924.5(RSPH3):c.1193G>A (p.Arg398Gln)SNV Benign 475820 rs10455840 6:159401898-159401898 6:158980866-158980866
50 RSPH3 NM_031924.5(RSPH3):c.729A>G (p.Thr243=)SNV Benign 475838 rs34756688 6:159407355-159407355 6:158986323-158986323

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....