CILD32
MCID: CLR117
MIFTS: 25

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 74 29 6
Cild32 57 12 74
Ciliary Dyskinesia, Primary, 32, Without Situs Inversus 57 74
Primary Ciliary Dyskinesia 32 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 32 40
Primary Ciliary Dyskinesia 32 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110603
MeSH 44 D007619
ICD10 33 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)

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 : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 neonatal respiratory distress 32 HP:0002643
3 bronchiectasis 32 HP:0002110
4 immotile cilia 32 HP:0012263
5 ciliary dyskinesia 32 HP:0012265

Symptoms via clinical synopsis from OMIM:

57
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 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 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. 8 71
26073779 2015
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
5
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 32

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

6 (show top 50) (show all 61)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RSPH3 NM_001346418.1(RSPH3): c.904C> T (p.Arg302Ter) single nucleotide variant Pathogenic rs796052118 6:159401899-159401899 6:158980867-158980867
2 RSPH3 NM_001346418.1(RSPH3): c.616C> T (p.Gln206Ter) single nucleotide variant Pathogenic rs796052117 6:159414885-159414885 6:158993853-158993853
3 RSPH3 NM_001346418.1(RSPH3): c.1028_1031TGAA[1] (p.Asn344fs) short repeat Pathogenic rs875989825 6:159399341-159399344 6:158978309-158978312
4 RSPH3 NM_001346418.1(RSPH3): c.817C> T (p.Arg273Ter) single nucleotide variant Pathogenic rs796052119 6:159403534-159403534 6:158982502-158982502
5 RSPH3 NM_031924.5(RSPH3): c.631-2A> G single nucleotide variant Pathogenic rs142800871 6:159407455-159407455 6:158986423-158986423
6 RSPH3 NM_031924.5(RSPH3): c.1111C> T (p.Arg371Ter) single nucleotide variant Pathogenic 6:159403528-159403528 6:158982496-158982496
7 RSPH3 NM_001346418.1(RSPH3): c.220_221TG[1] (p.Cys74fs) short repeat Pathogenic 6:159420786-159420787 6:158999754-158999755
8 RSPH3 NM_031924.4: c.595C> T single nucleotide variant Pathogenic 6:159414906-159414906 6:158993874-158993874
9 RSPH3 NC_000006.11: g.(?_159401786)_(159407473_?)del deletion Pathogenic 6:159401786-159407473 6:158980754-158986441
10 RSPH3 NM_031924.4: c.1645G> A single nucleotide variant Uncertain significance 6:159398608-159398608 6:158977576-158977576
11 RSPH3 NM_031924.4: c.1337T> C single nucleotide variant Uncertain significance 6:159399327-159399327 6:158978295-158978295
12 RSPH3 NM_031924.4: c.203C> A single nucleotide variant Uncertain significance 6:159420806-159420806 6:158999774-158999774
13 RSPH3 NM_031924.4: c.41A> G single nucleotide variant Uncertain significance 6:159420968-159420968 6:158999936-158999936
14 RSPH3 NM_031924.4: c.13C> G single nucleotide variant Uncertain significance 6:159420996-159420996 6:158999964-158999964
15 RSPH3 NM_031924.5(RSPH3): c.974C> T (p.Thr325Ile) single nucleotide variant Uncertain significance 6:159403665-159403665 6:158982633-158982633
16 RSPH3 NM_031924.5(RSPH3): c.44T> G (p.Leu15Arg) single nucleotide variant Uncertain significance 6:159420965-159420965 6:158999933-158999933
17 RSPH3 NM_031924.4: c.1277T> C single nucleotide variant Uncertain significance 6:159401814-159401814 6:158980782-158980782
18 RSPH3 NM_001346418.1(RSPH3): c.877_879del (p.Asn293del) deletion Uncertain significance 6:159401924-159401926 6:158980894-158980896
19 RSPH3 NM_031924.4: c.928T> C single nucleotide variant Uncertain significance 6:159403711-159403711 6:158982679-158982679
20 RSPH3 NM_031924.5(RSPH3): c.1250G> C (p.Arg417Thr) single nucleotide variant Uncertain significance rs770525375 6:159401841-159401841 6:158980809-158980809
21 RSPH3 NM_031924.4(RSPH3): c.379T> A (p.Cys127Ser) single nucleotide variant Uncertain significance rs151230376 6:159420630-159420630 6:158999598-158999598
22 RSPH3 NM_031924.5(RSPH3): c.205C> T (p.Pro69Ser) single nucleotide variant Uncertain significance rs752628369 6:159420804-159420804 6:158999772-158999772
23 RSPH3 NM_031924.5(RSPH3): c.1366C> T (p.Leu456Phe) single nucleotide variant Uncertain significance 6:159399298-159399298 6:158978266-158978266
24 RSPH3 NM_031924.5(RSPH3): c.1057C> T (p.Arg353Trp) single nucleotide variant Uncertain significance 6:159403582-159403582 6:158982550-158982550
25 RSPH3 NM_031924.5(RSPH3): c.1040G> A (p.Arg347His) single nucleotide variant Uncertain significance 6:159403599-159403599 6:158982567-158982567
26 RSPH3 NM_031924.5(RSPH3): c.997G> A (p.Val333Ile) single nucleotide variant Uncertain significance 6:159403642-159403642 6:158982610-158982610
27 RSPH3 NM_031924.5(RSPH3): c.242G> A (p.Ser81Asn) single nucleotide variant Uncertain significance 6:159420767-159420767 6:158999735-158999735
28 RSPH3 NM_031924.5(RSPH3): c.1586C> T (p.Ser529Leu) single nucleotide variant Uncertain significance 6:159398667-159398667 6:158977635-158977635
29 RSPH3 NM_031924.5(RSPH3): c.1217C> T (p.Ala406Val) single nucleotide variant Uncertain significance 6:159401874-159401874 6:158980842-158980842
30 RSPH3 NM_031924.5(RSPH3): c.1129C> T (p.Arg377Cys) single nucleotide variant Uncertain significance 6:159401962-159401962 6:158980930-158980930
31 RSPH3 NM_031924.5(RSPH3): c.1046A> G (p.Tyr349Cys) single nucleotide variant Uncertain significance 6:159403593-159403593 6:158982561-158982561
32 RSPH3 NM_031924.5(RSPH3): c.229G> A (p.Gly77Arg) single nucleotide variant Uncertain significance rs199715125 6:159420780-159420780 6:158999748-158999748
33 RSPH3 NM_031924.5(RSPH3): c.208G> T (p.Ala70Ser) single nucleotide variant Uncertain significance rs753412130 6:159420801-159420801 6:158999769-158999769
34 RSPH3 NM_031924.5(RSPH3): c.418C> T (p.Pro140Ser) single nucleotide variant Uncertain significance rs1258329279 6:159420591-159420591 6:158999559-158999559
35 RSPH3 NM_031924.5(RSPH3): c.895G> C (p.Ala299Pro) single nucleotide variant Uncertain significance rs138202910 6:159404717-159404717 6:158983685-158983685
36 RSPH3 NM_031924.5(RSPH3): c.631C> T (p.Leu211Phe) single nucleotide variant Uncertain significance rs372887350 6:159407453-159407453 6:158986421-158986421
37 RSPH3 NM_031924.5(RSPH3): c.542+3G> A single nucleotide variant Uncertain significance rs1554291596 6:159420464-159420464 6:158999432-158999432
38 RSPH3 NM_031924.5(RSPH3): c.436G> A (p.Ala146Thr) single nucleotide variant Uncertain significance rs1395283062 6:159420573-159420573 6:158999541-158999541
39 RSPH3 NM_031924.5(RSPH3): c.1285+5G> A single nucleotide variant Uncertain significance rs545361014 6:159401801-159401801 6:158980769-158980769
40 RSPH3 NM_031924.4(RSPH3): c.1127G> A (p.Arg376Gln) single nucleotide variant Uncertain significance rs149769974 6:159401964-159401964 6:158980932-158980932
41 RSPH3 NM_031924.4(RSPH3): c.978T> G (p.Ile326Met) single nucleotide variant Uncertain significance rs141317681 6:159403661-159403661 6:158982629-158982629
42 RSPH3 NM_031924.5(RSPH3): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs772035250 6:159403527-159403527 6:158982495-158982495
43 RSPH3 NM_031924.5(RSPH3): c.226G> C (p.Ala76Pro) single nucleotide variant Likely benign rs138878442 6:159420783-159420783 6:158999751-158999751
44 RSPH3 NM_031924.5(RSPH3): c.291C> T (p.Pro97=) single nucleotide variant Likely benign rs549752682 6:159420718-159420718 6:158999686-158999686
45 RSPH3 NM_031924.5(RSPH3): c.274C> T (p.Pro92Ser) single nucleotide variant Likely benign rs41267755 6:159420735-159420735 6:158999703-158999703
46 RSPH3 NM_031924.5(RSPH3): c.800G> A (p.Arg267His) single nucleotide variant Likely benign rs556783606 6:159404812-159404812 6:158983780-158983780
47 RSPH3 NM_031924.5(RSPH3): c.435A> C (p.Ser145=) single nucleotide variant Likely benign rs10945587 6:159420574-159420574 6:158999542-158999542
48 RSPH3 NM_031924.5(RSPH3): c.31C> T (p.Leu11=) single nucleotide variant Likely benign rs1554291758 6:159420978-159420978 6:158999946-158999946
49 RSPH3 NM_031924.5(RSPH3): c.637C> T (p.Arg213Trp) single nucleotide variant Benign rs41267753 6:159407447-159407447 6:158986415-158986415
50 RSPH3 NM_031924.5(RSPH3): c.1418A> C (p.His473Pro) single nucleotide variant Benign rs78116655 6:159398835-159398835 6:158977803-158977803

Expression for Ciliary Dyskinesia, Primary, 32

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GO Terms for Ciliary Dyskinesia, Primary, 32

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