MCID: CLR107
MIFTS: 18

Ciliary Dyskinesia, Primary, 24

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 24

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 24:

Name: Ciliary Dyskinesia, Primary, 24 57 75 73
Primary Ciliary Dyskinesia 24 12 29 6
Cild24 57 12 75
Ciliary Dyskinesia, Primary, 24, Without Situs Inversus 57
Primary Ciliary Dyskinesia 24 Without Situs Inversus 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
no situs inversus


HPO:

32
ciliary dyskinesia, primary, 24:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615481
Disease Ontology 12 DOID:0110628
ICD10 33 Q34.8
MeSH 44 D002925
UMLS 73 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)

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 1 Homolog). Related phenotypes are infertility and bronchiectasis

UniProtKB/Swiss-Prot : 75 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.

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.

Related Diseases for Ciliary Dyskinesia, Primary, 24

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 24

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sinusitis, recurrent

Head And Neck Nose:
rhinitis, recurrent

Respiratory Lung:
bronchiectasis

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)

Head And Neck Ears:
otitis, recurrent

Respiratory:
recurrent respiratory infections due to defective ciliary clearance

Genitourinary:
infertility
subfertility


Clinical features from OMIM:

615481

Human phenotypes related to Ciliary Dyskinesia, Primary, 24:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 bronchiectasis 32 HP:0002110
3 ciliary dyskinesia 32 HP:0012265
4 rhinitis 32 HP:0012384
5 recurrent sinusitis 32 HP:0011108

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

Variations for Ciliary Dyskinesia, Primary, 24

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

75
# Symbol AA change Variation ID SNP ID
1 RSPH1 p.Gly103Asp VAR_070564 rs587777060

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPH1 NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs138320978 GRCh37 Chromosome 21, 43913159: 43913159
2 RSPH1 NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs138320978 GRCh38 Chromosome 21, 42493049: 42493049
3 RSPH1 NM_080860.3(RSPH1): c.366-3C> A single nucleotide variant Pathogenic rs587777058 GRCh37 Chromosome 21, 43905917: 43905917
4 RSPH1 NM_080860.3(RSPH1): c.366-3C> A single nucleotide variant Pathogenic rs587777058 GRCh38 Chromosome 21, 42485807: 42485807
5 RSPH1 NM_080860.3(RSPH1): c.407_410delAGTA (p.Lys136Metfs) deletion Pathogenic rs587777059 GRCh37 Chromosome 21, 43905870: 43905873
6 RSPH1 NM_080860.3(RSPH1): c.407_410delAGTA (p.Lys136Metfs) deletion Pathogenic rs587777059 GRCh38 Chromosome 21, 42485760: 42485763
7 RSPH1 NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10) single nucleotide variant Pathogenic rs151107532 GRCh37 Chromosome 21, 43906573: 43906573
8 RSPH1 NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10) single nucleotide variant Pathogenic rs151107532 GRCh38 Chromosome 21, 42486463: 42486463
9 RSPH1 NM_080860.3(RSPH1): c.308G> A (p.Gly103Asp) single nucleotide variant Pathogenic rs587777060 GRCh37 Chromosome 21, 43906538: 43906538
10 RSPH1 NM_080860.3(RSPH1): c.308G> A (p.Gly103Asp) single nucleotide variant Pathogenic rs587777060 GRCh38 Chromosome 21, 42486428: 42486428
11 RSPH1 NM_080860.3(RSPH1): c.281G> A (p.Trp94Ter) single nucleotide variant Pathogenic rs587777635 GRCh37 Chromosome 21, 43906565: 43906565
12 RSPH1 NM_080860.3(RSPH1): c.281G> A (p.Trp94Ter) single nucleotide variant Pathogenic rs587777635 GRCh38 Chromosome 21, 42486455: 42486455

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

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