CILD24
MCID: CLR107
MIFTS: 22

Ciliary Dyskinesia, Primary, 24 (CILD24)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 24

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 24:

Name: Ciliary Dyskinesia, Primary, 24 57 72 70
Primary Ciliary Dyskinesia 24 12 29 6
Cild24 57 12 72
Ciliary Dyskinesia, Primary, 24, Without Situs Inversus 57
Primary Ciliary Dyskinesia 24 Without Situs Inversus 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
no situs inversus


HPO:

31
ciliary dyskinesia, primary, 24:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110628
OMIM® 57 615481
OMIM Phenotypic Series 57 PS244400
MeSH 44 D002925
ICD10 32 Q34.8
UMLS 70 C3809634

Summaries for Ciliary Dyskinesia, Primary, 24

OMIM® : 57 Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central microtubule complex and radial spokes (summary by Kott et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615481) (Updated 05-Apr-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 24, is also known as primary ciliary dyskinesia 24. An important gene associated with Ciliary Dyskinesia, Primary, 24 is RSPH1 (Radial Spoke Head Component 1). Related phenotypes are infertility and bronchiectasis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has material basis in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 24: 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. Situs inversus is not observed in CILD24 patients.

Related Diseases for Ciliary Dyskinesia, Primary, 24

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 24

Human phenotypes related to Ciliary Dyskinesia, Primary, 24:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 bronchiectasis 31 HP:0002110
3 ciliary dyskinesia 31 HP:0012265
4 rhinitis 31 HP:0012384
5 recurrent sinusitis 31 HP:0011108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
asthenospermia

Respiratory Lung:
bronchiectasis

Respiratory Nasopharynx:
sinusitis, recurrent

Respiratory:
recurrent respiratory infections due to defective ciliary clearance

Genitourinary Internal Genitalia Female:
infertility
subfertility

Head And Neck Ears:
otitis, recurrent

Head And Neck Nose:
rhinitis, recurrent

Laboratory Abnormalities:
some cilia show abnormal beating patterns or immotility
some cilia show central complex and radial spoke defects
decreased nasal nitric oxide (in some patients)

Clinical features from OMIM®:

615481 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 24

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 24

Genetic Tests for Ciliary Dyskinesia, Primary, 24

Genetic tests related to Ciliary Dyskinesia, Primary, 24:

# Genetic test Affiliating Genes
1 Primary Ciliary Dyskinesia 24 29 RSPH1

Anatomical Context for Ciliary Dyskinesia, Primary, 24

Publications for Ciliary Dyskinesia, Primary, 24

Articles related to Ciliary Dyskinesia, Primary, 24:

# Title Authors PMID Year
1
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. 57 6
24518672 2014
2
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 6 57
23993197 2013

Variations for Ciliary Dyskinesia, Primary, 24

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 24:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RSPH1 NM_080860.4(RSPH1):c.366-3C>A SNV Pathogenic 66988 rs587777058 GRCh37: 21:43905917-43905917
GRCh38: 21:42485807-42485807
2 RSPH1 NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter) SNV Pathogenic 144011 rs587777635 GRCh37: 21:43906565-43906565
GRCh38: 21:42486455-42486455
3 RSPH1 NM_080860.4(RSPH1):c.315C>G (p.Tyr105Ter) SNV Pathogenic 548598 rs144037391 GRCh37: 21:43906531-43906531
GRCh38: 21:42486421-42486421
4 RSPH1 NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter) SNV Pathogenic 66987 rs138320978 GRCh37: 21:43913159-43913159
GRCh38: 21:42493049-42493049
5 RSPH1 NM_080860.4(RSPH1):c.275-2A>C SNV Pathogenic 66990 rs151107532 GRCh37: 21:43906573-43906573
GRCh38: 21:42486463-42486463
6 RSPH1 NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter) SNV Pathogenic 165057 rs727503394 GRCh37: 21:43902757-43902757
GRCh38: 21:42482647-42482647
7 RSPH1 NM_080860.4(RSPH1):c.308G>A (p.Gly103Asp) SNV Pathogenic 66991 rs587777060 GRCh37: 21:43906538-43906538
GRCh38: 21:42486428-42486428
8 RSPH1 NM_080860.4(RSPH1):c.403_406AGTA[1] (p.Lys136fs) Microsatellite Pathogenic 66989 rs587777059 GRCh37: 21:43905870-43905873
GRCh38: 21:42485760-42485763
9 RSPH1 NM_080860.4(RSPH1):c.847C>T (p.Gln283Ter) SNV Likely pathogenic 852534 GRCh37: 21:43896038-43896038
GRCh38: 21:42475928-42475928
10 RSPH1 NM_080860.4(RSPH1):c.916G>C (p.Asp306His) SNV Uncertain significance 1028540 GRCh37: 21:43892942-43892942
GRCh38: 21:42472832-42472832
11 RSPH1 NM_080860.4(RSPH1):c.391G>A (p.Ala131Thr) SNV Uncertain significance 846299 GRCh37: 21:43905889-43905889
GRCh38: 21:42485779-42485779
12 RSPH1 NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly) SNV Uncertain significance 454951 rs137935071 GRCh37: 21:43897401-43897401
GRCh38: 21:42477291-42477291
13 RSPH1 NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly) SNV Uncertain significance 408126 rs150629342 GRCh37: 21:43892951-43892951
GRCh38: 21:42472841-42472841

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 24:

72
# Symbol AA change Variation ID SNP ID
1 RSPH1 p.Gly103Asp VAR_070564 rs587777060

Expression for Ciliary Dyskinesia, Primary, 24

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 24.

Pathways for Ciliary Dyskinesia, Primary, 24

GO Terms for Ciliary Dyskinesia, Primary, 24

Sources for Ciliary Dyskinesia, Primary, 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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