MCID: CLR053
MIFTS: 18

Ciliary Dyskinesia, Primary, 11

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 11

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 11:

Name: Ciliary Dyskinesia, Primary, 11 57 75 29 13 6 73
Cild11 57 12 75
Primary Ciliary Dyskinesia 11 Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 11, Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 11 40
Primary Ciliary Dyskinesia 11 12
Immotile Cilia Syndrome 11 75
Ics11 75

Characteristics:

HPO:

32
ciliary dyskinesia, primary, 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612649
Disease Ontology 12 DOID:0110602
ICD10 33 Q34.8
MedGen 42 C2675229
MeSH 44 D007619
UMLS 73 C2675229

Summaries for Ciliary Dyskinesia, Primary, 11

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 11: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

MalaCards based summary : Ciliary Dyskinesia, Primary, 11, is also known as cild11. An important gene associated with Ciliary Dyskinesia, Primary, 11 is RSPH4A (Radial Spoke Head 4 Homolog A). Related phenotypes are bronchiectasis and chronic rhinitis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has material basis in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.

Description from OMIM: 612649

Related Diseases for Ciliary Dyskinesia, Primary, 11

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 11

Clinical features from OMIM:

612649

Human phenotypes related to Ciliary Dyskinesia, Primary, 11:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 bronchiectasis 32 HP:0002110
2 chronic rhinitis 32 HP:0002257
3 exercise intolerance 32 HP:0003546
4 short stature 32 HP:0004322
5 recurrent sinusitis 32 HP:0011108
6 abnormal central microtubular pair morphology of respiratory motile cilia 32 HP:0012260
7 abnormal ciliary motility 32 HP:0012262
8 ciliary dyskinesia 32 HP:0012265

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 11

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 11

Genetic Tests for Ciliary Dyskinesia, Primary, 11

Genetic tests related to Ciliary Dyskinesia, Primary, 11:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 11 29 RSPH4A

Anatomical Context for Ciliary Dyskinesia, Primary, 11

Publications for Ciliary Dyskinesia, Primary, 11

Variations for Ciliary Dyskinesia, Primary, 11

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 11:

75
# Symbol AA change Variation ID SNP ID
1 RSPH4A p.Pro87Ser VAR_055235 rs767490154

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 11:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPH4A NM_001010892.2(RSPH4A): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs118204041 GRCh37 Chromosome 6, 116938246: 116938246
2 RSPH4A NM_001010892.2(RSPH4A): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs118204041 GRCh38 Chromosome 6, 116617083: 116617083
3 RSPH4A NM_001010892.2(RSPH4A): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs118204042 GRCh37 Chromosome 6, 116938111: 116938111
4 RSPH4A NM_001010892.2(RSPH4A): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs118204042 GRCh38 Chromosome 6, 116616948: 116616948
5 RSPH4A NM_001010892.2(RSPH4A): c.1468C> T (p.Arg490Ter) single nucleotide variant Pathogenic rs118204043 GRCh37 Chromosome 6, 116949338: 116949338
6 RSPH4A NM_001010892.2(RSPH4A): c.1468C> T (p.Arg490Ter) single nucleotide variant Pathogenic rs118204043 GRCh38 Chromosome 6, 116628175: 116628175
7 RSPH4A NM_001010892.2(RSPH4A): c.667delA (p.Ser223Alafs) deletion Pathogenic rs397518455 GRCh37 Chromosome 6, 116938453: 116938453
8 RSPH4A NM_001010892.2(RSPH4A): c.667delA (p.Ser223Alafs) deletion Pathogenic rs397518455 GRCh38 Chromosome 6, 116617290: 116617290
9 RSPH4A NM_001010892.2(RSPH4A): c.1270delA (p.Thr424Glnfs) deletion Pathogenic rs397518456 GRCh37 Chromosome 6, 116949140: 116949140
10 RSPH4A NM_001010892.2(RSPH4A): c.1270delA (p.Thr424Glnfs) deletion Pathogenic rs397518456 GRCh38 Chromosome 6, 116627977: 116627977
11 RSPH4A NM_001010892.2(RSPH4A): c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8) deletion Pathogenic rs869320683 GRCh37 Chromosome 6, 116944168: 116944171
12 RSPH4A NM_001010892.2(RSPH4A): c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8) deletion Pathogenic rs869320683 GRCh38 Chromosome 6, 116623005: 116623008
13 RSPH4A NM_001010892.2(RSPH4A): c.1662+2_1662+5delTAGG deletion Pathogenic rs768986129 GRCh38 Chromosome 6, 116628371: 116628374

Expression for Ciliary Dyskinesia, Primary, 11

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 11.

Pathways for Ciliary Dyskinesia, Primary, 11

GO Terms for Ciliary Dyskinesia, Primary, 11

Sources for Ciliary Dyskinesia, Primary, 11

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