CILD32
MCID: CLR117
MIFTS: 23

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 57 73 29 6
Cild32 57 12 73
Ciliary Dyskinesia, Primary, 32, Without Situs Inversus 57 73
Primary Ciliary Dyskinesia 32 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 32 39
Primary Ciliary Dyskinesia 32 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 616481
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8

Summaries for Ciliary Dyskinesia, Primary, 32

OMIM® : 57 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) (Updated 05-Mar-2021)

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 ciliary dyskinesia 31 HP:0012265
6 immotile cilia 31 HP:0012263

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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. 6 57
26073779 2015

Variations for Ciliary Dyskinesia, Primary, 32

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

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RSPH3 NM_031924.8(RSPH3):c.190C>T (p.Gln64Ter) SNV Pathogenic 204498 rs796052117 6:159414885-159414885 6:158993853-158993853
2 RSPH3 NM_031924.8(RSPH3):c.205-2A>G SNV Pathogenic 209010 rs142800871 6:159407455-159407455 6:158986423-158986423
3 RSPH3 NM_031924.8(RSPH3):c.766C>T (p.Arg256Ter) SNV Pathogenic 204500 rs796052118 6:159401899-159401899 6:158980867-158980867
4 RSPH3 NM_031924.8(RSPH3):c.894_897del (p.Asn298fs) Microsatellite Pathogenic 204501 rs875989825 6:159399341-159399344 6:158978309-158978312
5 RSPH3 NM_031924.8(RSPH3):c.679C>T (p.Arg227Ter) SNV Pathogenic 204502 rs796052119 6:159403534-159403534 6:158982502-158982502
6 RSPH3 NM_031924.8(RSPH3):c.685C>T (p.Arg229Ter) SNV Pathogenic 570047 rs1158185476 6:159403528-159403528 6:158982496-158982496
7 RSPH3 NM_031924.8(RSPH3):c.823_824del (p.Arg275fs) Deletion Pathogenic 946339 6:159401841-159401842 6:158980809-158980810
8 RSPH3 NM_031924.8(RSPH3):c.169C>T (p.Arg57Ter) SNV Pathogenic 650363 rs760122351 6:159414906-159414906 6:158993874-158993874
9 RSPH3 NM_031924.8(RSPH3):c.-207TG[1] Microsatellite Pathogenic 646115 rs757935663 6:159420786-159420787 6:158999754-158999755
10 RSPH3 NC_000006.12:g.(?_158980754)_(158986441_?)del Deletion Pathogenic 665656 6:159401786-159407473 6:158980754-158986441
11 RSPH3 NM_031924.8(RSPH3):c.851T>C (p.Ile284Thr) SNV Uncertain significance 646621 rs533324922 6:159401814-159401814 6:158980782-158980782
12 RSPH3 NM_031924.8(RSPH3):c.911T>C (p.Met304Thr) SNV Uncertain significance 649011 rs369846962 6:159399327-159399327 6:158978295-158978295
13 RSPH3 NM_031924.8(RSPH3):c.-414C>G SNV Uncertain significance 651414 rs747323201 6:159420996-159420996 6:158999964-158999964
14 RSPH3 NM_031924.8(RSPH3):c.502T>C (p.Phe168Leu) SNV Uncertain significance 657722 rs377691194 6:159403711-159403711 6:158982679-158982679
15 RSPH3 NM_031924.8(RSPH3):c.1219G>A (p.Ala407Thr) SNV Uncertain significance 657841 rs764221184 6:159398608-159398608 6:158977576-158977576
16 RSPH3 NM_031924.8(RSPH3):c.739_741del (p.Asn247del) Deletion Uncertain significance 658079 rs1583704831 6:159401924-159401926 6:158980892-158980894
17 RSPH3 NM_031924.8(RSPH3):c.-224C>A SNV Uncertain significance 660350 rs371925841 6:159420806-159420806 6:158999774-158999774
18 RSPH3 NM_031924.8(RSPH3):c.-351G>A SNV Uncertain significance 947441 6:159420933-159420933 6:158999901-158999901
19 RSPH3 NM_031924.8(RSPH3):c.-225G>A SNV Uncertain significance 948783 6:159420807-159420807 6:158999775-158999775
20 RSPH3 NM_031924.8(RSPH3):c.653T>C (p.Val218Ala) SNV Uncertain significance 954713 6:159403560-159403560 6:158982528-158982528
21 RSPH3 NM_031924.8(RSPH3):c.313G>A (p.Val105Met) SNV Uncertain significance 959978 6:159407345-159407345 6:158986313-158986313
22 RSPH3 NM_031924.8(RSPH3):c.1146A>G (p.Thr382=) SNV Uncertain significance 968193 6:159398681-159398681 6:158977649-158977649
23 RSPH3 NM_031924.8(RSPH3):c.-422C>A SNV Uncertain significance 968950 6:159421004-159421004 6:158999972-158999972
24 RSPH3 NM_031924.8(RSPH3):c.763G>A (p.Ala255Thr) SNV Uncertain significance 969510 6:159401902-159401902 6:158980870-158980870
25 RSPH3 NM_031924.8(RSPH3):c.-10G>T SNV Uncertain significance 972440 6:159420592-159420592 6:158999560-158999560
26 RSPH3 NM_031924.8(RSPH3):c.1039G>T (p.Gly347Cys) SNV Uncertain significance 836755 6:159398788-159398788 6:158977756-158977756
27 RSPH3 NM_031924.8(RSPH3):c.-384C>T SNV Uncertain significance 838112 6:159420966-159420966 6:158999934-158999934
28 RSPH3 NM_031924.8(RSPH3):c.376A>G (p.Ile126Val) SNV Uncertain significance 838839 6:159404810-159404810 6:158983778-158983778
29 RSPH3 NM_031924.8(RSPH3):c.-219G>A SNV Uncertain significance 839991 6:159420801-159420801 6:158999769-158999769
30 RSPH3 NM_031924.8(RSPH3):c.480A>G (p.Ile160Met) SNV Uncertain significance 840371 6:159404706-159404706 6:158983674-158983674
31 RSPH3 NM_031924.8(RSPH3):c.704G>A (p.Arg235His) SNV Uncertain significance 856045 6:159401961-159401961 6:158980929-158980929
32 RSPH3 NM_031924.8(RSPH3):c.1237G>A (p.Gly413Arg) SNV Uncertain significance 862245 6:159398590-159398590 6:158977558-158977558
33 RSPH3 NM_031924.8(RSPH3):c.1046dup (p.Ala350fs) Duplication Uncertain significance 945283 6:159398780-159398781 6:158977748-158977749
34 RSPH3 NM_031924.8(RSPH3):c.620A>G (p.Tyr207Cys) SNV Uncertain significance 572046 rs1562560893 6:159403593-159403593 6:158982561-158982561
35 RSPH3 NM_031924.8(RSPH3):c.-383T>G SNV Uncertain significance 572130 rs147256615 6:159420965-159420965 6:158999933-158999933
36 RSPH3 NM_031924.8(RSPH3):c.571G>A (p.Val191Ile) SNV Uncertain significance 572370 rs147697861 6:159403642-159403642 6:158982610-158982610
37 RSPH3 NM_031924.8(RSPH3):c.614G>A (p.Arg205His) SNV Uncertain significance 573258 rs754501725 6:159403599-159403599 6:158982567-158982567
38 RSPH3 NM_031924.8(RSPH3):c.1160C>T (p.Ser387Leu) SNV Uncertain significance 574980 rs1280733586 6:159398667-159398667 6:158977635-158977635
39 RSPH3 NM_031924.8(RSPH3):c.-185G>A SNV Uncertain significance 579646 rs1335094606 6:159420767-159420767 6:158999735-158999735
40 RSPH3 NM_031924.8(RSPH3):c.548C>T (p.Thr183Ile) SNV Uncertain significance 581708 rs201137146 6:159403665-159403665 6:158982633-158982633
41 RSPH3 NM_031924.8(RSPH3):c.-386A>G SNV Uncertain significance 645936 rs754166423 6:159420968-159420968 6:158999936-158999936
42 RSPH3 NM_031924.8(RSPH3):c.-198G>A SNV Uncertain significance 475829 rs199715125 6:159420780-159420780 6:158999748-158999748
43 RSPH3 NM_031924.8(RSPH3):c.824G>C (p.Arg275Thr) SNV Uncertain significance 475821 rs770525375 6:159401841-159401841 6:158980809-158980809
44 RSPH3 NM_031924.8(RSPH3):c.-219G>T SNV Uncertain significance 475827 rs753412130 6:159420801-159420801 6:158999769-158999769
45 RSPH3 NM_031924.8(RSPH3):c.703C>T (p.Arg235Cys) SNV Uncertain significance 566228 rs778108869 6:159401962-159401962 6:158980930-158980930
46 RSPH3 NM_031924.8(RSPH3):c.631C>T (p.Arg211Trp) SNV Uncertain significance 566567 rs755822557 6:159403582-159403582 6:158982550-158982550
47 RSPH3 NM_031924.8(RSPH3):c.940C>T (p.Leu314Phe) SNV Uncertain significance 567706 rs1562558137 6:159399298-159399298 6:158978266-158978266
48 RSPH3 NM_031924.8(RSPH3):c.791C>T (p.Ala264Val) SNV Uncertain significance 568995 rs150750790 6:159401874-159401874 6:158980842-158980842
49 RSPH3 NM_031924.8(RSPH3):c.686G>A (p.Arg229Gln) SNV Uncertain significance 475819 rs772035250 6:159403527-159403527 6:158982495-158982495
50 RSPH3 NM_031924.8(RSPH3):c.116+3G>A SNV Uncertain significance 542464 rs1554291596 6:159420464-159420464 6:158999432-158999432

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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