CILD11
MCID: CLR053
MIFTS: 18

Ciliary Dyskinesia, Primary, 11 (CILD11)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 11

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 11:

Name: Ciliary Dyskinesia, Primary, 11 58 76 30 13 6 74
Cild11 58 12 76
Primary Ciliary Dyskinesia 11 Without Situs Inversus 12 76
Ciliary Dyskinesia, Primary, 11, Without Situs Inversus 58
Dyskinesia, Ciliary, Primary, 11 41
Primary Ciliary Dyskinesia 11 12
Immotile Cilia Syndrome 11 76
Ics11 76

Characteristics:

HPO:

33
ciliary dyskinesia, primary, 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110602
OMIM 58 612649
MeSH 45 D007619
ICD10 34 Q34.8
MedGen 43 C2675229
UMLS 74 C2675229

Summaries for Ciliary Dyskinesia, Primary, 11

UniProtKB/Swiss-Prot : 76 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 Component 4A). Related phenotypes are short stature and exercise intolerance

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

Human phenotypes related to Ciliary Dyskinesia, Primary, 11:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short stature 33 HP:0004322
2 exercise intolerance 33 HP:0003546
3 bronchiectasis 33 HP:0002110
4 chronic rhinitis 33 HP:0002257
5 ciliary dyskinesia 33 HP:0012265
6 recurrent sinusitis 33 HP:0011108
7 abnormal ciliary motility 33 HP:0012262
8 abnormal central microtubular pair morphology of respiratory motile cilia 33 HP:0012260

Clinical features from OMIM:

612649

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 30 RSPH4A

Anatomical Context for Ciliary Dyskinesia, Primary, 11

Publications for Ciliary Dyskinesia, Primary, 11

Articles related to Ciliary Dyskinesia, Primary, 11:

# Title Authors Year
1
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. ( 23798057 )
2013
2
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. ( 23993197 )
2013
3
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. ( 19200523 )
2009

Variations for Ciliary Dyskinesia, Primary, 11

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

76
# 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 14)
# 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
14 RSPH4A NM_001010892.2(RSPH4A): c.1662+2_1662+5delTAGG deletion Pathogenic rs768986129 GRCh37 Chromosome 6, 116949534: 116949537

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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