CILD11
MCID: CLR053
MIFTS: 24

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 57 73 29 13 6 71
Cild11 57 12 73
Primary Ciliary Dyskinesia 11 Without Situs Inversus 12 73
Ciliary Dyskinesia, Primary, 11, Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 11 39
Primary Ciliary Dyskinesia 11 12
Immotile Cilia Syndrome 11 73
Ics11 73

Characteristics:

HPO:

31
ciliary dyskinesia, primary, 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110602
OMIM® 57 612649
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C2675229
UMLS 71 C2675229

Summaries for Ciliary Dyskinesia, Primary, 11

UniProtKB/Swiss-Prot : 73 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 neonatal respiratory distress and bronchiectasis

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.

More information from OMIM: 612649 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 11

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 11

Human phenotypes related to Ciliary Dyskinesia, Primary, 11:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 neonatal respiratory distress 31 very rare (1%) HP:0002643
2 bronchiectasis 31 very rare (1%) HP:0002110
3 chronic rhinitis 31 very rare (1%) HP:0002257
4 recurrent sinusitis 31 very rare (1%) HP:0011108
5 reduced sperm motility 31 very rare (1%) HP:0012207
6 chronic bronchitis 31 very rare (1%) HP:0004469
7 recurrent respiratory infections 31 HP:0002205
8 short stature 31 HP:0004322
9 ciliary dyskinesia 31 HP:0012265
10 exercise intolerance 31 HP:0003546
11 immotile cilia 31 HP:0012263
12 abnormal central microtubular pair morphology of respiratory motile cilia 31 HP:0012260

Clinical features from OMIM®:

612649 (Updated 05-Mar-2021)

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

Articles related to Ciliary Dyskinesia, Primary, 11:

# Title Authors PMID Year
1
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 6 57
23798057 2013
2
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 57 6
23993197 2013
3
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 57 6
19200523 2009

Variations for Ciliary Dyskinesia, Primary, 11

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

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RSPH4A NM_001010892.3(RSPH4A):c.667del (p.Ser223fs) Deletion Pathogenic 66992 rs397518455 6:116938453-116938453 6:116617290-116617290
2 RSPH4A NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs) Deletion Pathogenic 66993 rs397518456 6:116949139-116949139 6:116627976-116627976
3 RSPH4A NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter) SNV Pathogenic 503 rs118204041 6:116938246-116938246 6:116617083-116617083
4 RSPH4A NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter) SNV Pathogenic 504 rs118204042 6:116938111-116938111 6:116616948-116616948
5 RSPH4A NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter) SNV Pathogenic 505 rs118204043 6:116949338-116949338 6:116628175-116628175
6 RSPH4A NM_001010892.3(RSPH4A):c.921+3_921+6del Deletion Pathogenic 88863 rs869320683 6:116944165-116944168 6:116623002-116623005
7 RSPH4A NM_001010892.3(RSPH4A):c.1917-4A>G SNV Uncertain significance 215480 rs201826366 6:116953366-116953366 6:116632203-116632203
8 RSPH4A NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) SNV Uncertain significance 355124 rs146142715 6:116953443-116953443 6:116632280-116632280
9 RSPH4A NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met) SNV Uncertain significance 651381 rs1379993014 6:116948981-116948981 6:116627818-116627818
10 RSPH4A NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys) SNV Uncertain significance 454519 rs140079844 6:116949156-116949156 6:116627993-116627993
11 RSPH4A NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) SNV Uncertain significance 197172 rs147003118 6:116950775-116950775 6:116629612-116629612
12 RSPH4A NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) SNV Uncertain significance 227903 rs142977481 6:116953427-116953427 6:116632264-116632264
13 RSPH4A NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) SNV Uncertain significance 355119 rs180881714 6:116948800-116948800 6:116627637-116627637
14 RSPH4A NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val) SNV Uncertain significance 355120 rs61738662 6:116949117-116949117 6:116627954-116627954
15 RSPH4A NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser) SNV Uncertain significance 355121 rs565491418 6:116949384-116949384 6:116628221-116628221
16 RSPH4A NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=) SNV Uncertain significance 355118 rs145831200 6:116938023-116938023 6:116616860-116616860
17 RSPH4A NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) SNV Uncertain significance 165058 rs141226759 6:116938370-116938370 6:116617207-116617207
18 RSPH4A NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) SNV Uncertain significance 355125 rs140660854 6:116953554-116953554 6:116632391-116632391
19 RSPH4A NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser) SNV Uncertain significance 193128 rs762313827 6:116938436-116938436 6:116617273-116617273
20 RSPH4A NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter) SNV Uncertain significance 525269 rs756868889 6:116938216-116938216 6:116617053-116617053
21 RSPH4A NM_001010892.3(RSPH4A):c.*64A>C SNV Uncertain significance 355127 rs143307769 6:116953668-116953668 6:116632505-116632505
22 RSPH4A NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=) SNV Uncertain significance 903939 6:116943955-116943955 6:116622792-116622792
23 RSPH4A NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu) SNV Uncertain significance 903940 6:116949204-116949204 6:116628041-116628041
24 RSPH4A NM_001010892.3(RSPH4A):c.*223A>T SNV Uncertain significance 904009 6:116953827-116953827 6:116632664-116632664
25 RSPH4A NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu) SNV Uncertain significance 905826 6:116949348-116949348 6:116628185-116628185
26 RSPH4A NM_001010892.3(RSPH4A):c.*469T>C SNV Uncertain significance 905884 6:116954073-116954073 6:116632910-116632910
27 RSPH4A NM_001010892.3(RSPH4A):c.1662+15C>T SNV Uncertain significance 227901 rs183372450 6:116949547-116949547 6:116628384-116628384
28 RSPH4A NM_001010892.3(RSPH4A):c.1843C>G (p.Leu615Val) SNV Uncertain significance 355123 rs886060994 6:116951642-116951642 6:116630479-116630479
29 RSPH4A NM_001010892.3(RSPH4A):c.*224C>T SNV Uncertain significance 355128 rs886060996 6:116953828-116953828 6:116632665-116632665
30 RSPH4A NM_001010892.3(RSPH4A):c.1559G>A (p.Arg520Gln) SNV Uncertain significance 355122 rs148954304 6:116949429-116949429 6:116628266-116628266
31 RSPH4A NM_001010892.3(RSPH4A):c.*500G>A SNV Uncertain significance 355132 rs886060997 6:116954104-116954104 6:116632941-116632941
32 RSPH4A NM_001010892.3(RSPH4A):c.*277A>G SNV Uncertain significance 355129 rs148830140 6:116953881-116953881 6:116632718-116632718
33 RSPH4A NM_001010892.3(RSPH4A):c.-88A>G SNV Uncertain significance 355117 rs780704629 6:116937699-116937699 6:116616536-116616536
34 RSPH4A NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr) SNV Uncertain significance 906334 6:116950815-116950815 6:116629652-116629652
35 RSPH4A NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=) SNV Uncertain significance 906335 6:116950831-116950831 6:116629668-116629668
36 RSPH4A NM_001010892.3(RSPH4A):c.1828C>T (p.Arg610Trp) SNV Uncertain significance 906336 6:116951627-116951627 6:116630464-116630464
37 RSPH4A NM_001010892.3(RSPH4A):c.-50T>C SNV Uncertain significance 907279 6:116937737-116937737 6:116616574-116616574
38 RSPH4A NM_001010892.3(RSPH4A):c.198A>G (p.Arg66=) SNV Uncertain significance 907280 6:116937984-116937984 6:116616821-116616821
39 RSPH4A NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu) SNV Uncertain significance 907281 6:116938073-116938073 6:116616910-116616910
40 RSPH4A NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr) SNV Uncertain significance 907282 6:116938372-116938372 6:116617209-116617209
41 RSPH4A NM_001010892.3(RSPH4A):c.1875A>G (p.Gln625=) SNV Uncertain significance 907341 6:116951674-116951674 6:116630511-116630511
42 RSPH4A NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His) SNV Uncertain significance 907342 6:116953422-116953422 6:116632259-116632259
43 RSPH4A NM_001010892.3(RSPH4A):c.2081A>G (p.Glu694Gly) SNV Uncertain significance 907343 6:116953534-116953534 6:116632371-116632371
44 RSPH4A NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=) SNV Uncertain significance 695727 rs563352149 6:116949247-116949247 6:116628084-116628084
45 RSPH4A NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=) SNV Uncertain significance 257048 rs143732959 6:116949433-116949433 6:116628270-116628270
46 RSPH4A NM_001010892.3(RSPH4A):c.*8A>G SNV Likely benign 227053 rs575857124 6:116953612-116953612 6:116632449-116632449
47 RSPH4A NM_001010892.3(RSPH4A):c.1798+11G>A SNV Likely benign 227054 rs41290844 6:116950876-116950876 6:116629713-116629713
48 RSPH4A NM_001010892.3(RSPH4A):c.*491T>C SNV Likely benign 905885 6:116954095-116954095 6:116632932-116632932
49 RSPH4A NM_001010892.3(RSPH4A):c.*250G>T SNV Likely benign 904010 6:116953854-116953854 6:116632691-116632691
50 RSPH4A NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) SNV Likely benign 165059 rs41289942 6:116943975-116943975 6:116622812-116622812

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

73
# Symbol AA change Variation ID SNP ID
1 RSPH4A p.Pro87Ser VAR_055235 rs767490154

Expression for Ciliary Dyskinesia, Primary, 11

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Pathways for Ciliary Dyskinesia, Primary, 11

GO Terms for Ciliary Dyskinesia, Primary, 11

Sources for Ciliary Dyskinesia, Primary, 11

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