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 72 29 13 6 70
Cild11 57 12 72
Primary Ciliary Dyskinesia 11 Without Situs Inversus 12 72
Ciliary Dyskinesia, Primary, 11, Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 11 39
Primary Ciliary Dyskinesia 11 12
Immotile Cilia Syndrome 11 72
Ics11 72

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 70 C2675229

Summaries for Ciliary Dyskinesia, Primary, 11

UniProtKB/Swiss-Prot : 72 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 (showing 12, show less)
# 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-Apr-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:

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

Variations for Ciliary Dyskinesia, Primary, 11

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

6 (showing 62, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RSPH4A NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs) Deletion Pathogenic 66993 rs397518456 GRCh37: 6:116949139-116949139
GRCh38: 6:116627976-116627976
2 RSPH4A NM_001010892.3(RSPH4A):c.667del (p.Ser223fs) Deletion Pathogenic 66992 rs397518455 GRCh37: 6:116938453-116938453
GRCh38: 6:116617290-116617290
3 RSPH4A NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter) SNV Pathogenic 503 rs118204041 GRCh37: 6:116938246-116938246
GRCh38: 6:116617083-116617083
4 RSPH4A NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter) SNV Pathogenic 504 rs118204042 GRCh37: 6:116938111-116938111
GRCh38: 6:116616948-116616948
5 RSPH4A NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter) SNV Pathogenic 505 rs118204043 GRCh37: 6:116949338-116949338
GRCh38: 6:116628175-116628175
6 RSPH4A NM_001010892.3(RSPH4A):c.921+3_921+6del Deletion Pathogenic 88863 rs869320683 GRCh37: 6:116944165-116944168
GRCh38: 6:116623002-116623005
7 RSPH4A NM_001010892.3(RSPH4A):c.1757_1763del (p.Glu586fs) Deletion Pathogenic 1034367 GRCh37: 6:116950822-116950828
GRCh38: 6:116629659-116629665
8 RSPH4A NM_001010892.3(RSPH4A):c.1917-4A>G SNV Uncertain significance 215480 rs201826366 GRCh37: 6:116953366-116953366
GRCh38: 6:116632203-116632203
9 RSPH4A NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) SNV Uncertain significance 355124 rs146142715 GRCh37: 6:116953443-116953443
GRCh38: 6:116632280-116632280
10 RSPH4A NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met) SNV Uncertain significance 651381 rs1379993014 GRCh37: 6:116948981-116948981
GRCh38: 6:116627818-116627818
11 RSPH4A NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys) SNV Uncertain significance 454519 rs140079844 GRCh37: 6:116949156-116949156
GRCh38: 6:116627993-116627993
12 RSPH4A NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) SNV Uncertain significance 197172 rs147003118 GRCh37: 6:116950775-116950775
GRCh38: 6:116629612-116629612
13 RSPH4A NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) SNV Uncertain significance 227903 rs142977481 GRCh37: 6:116953427-116953427
GRCh38: 6:116632264-116632264
14 RSPH4A NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr) SNV Uncertain significance 906334 GRCh37: 6:116950815-116950815
GRCh38: 6:116629652-116629652
15 RSPH4A NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) SNV Uncertain significance 355125 rs140660854 GRCh37: 6:116953554-116953554
GRCh38: 6:116632391-116632391
16 RSPH4A NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser) SNV Uncertain significance 355121 rs565491418 GRCh37: 6:116949384-116949384
GRCh38: 6:116628221-116628221
17 RSPH4A NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=) SNV Uncertain significance 355118 rs145831200 GRCh37: 6:116938023-116938023
GRCh38: 6:116616860-116616860
18 RSPH4A NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) SNV Uncertain significance 165058 rs141226759 GRCh37: 6:116938370-116938370
GRCh38: 6:116617207-116617207
19 RSPH4A NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter) SNV Uncertain significance 525269 rs756868889 GRCh37: 6:116938216-116938216
GRCh38: 6:116617053-116617053
20 RSPH4A NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) SNV Uncertain significance 355119 rs180881714 GRCh37: 6:116948800-116948800
GRCh38: 6:116627637-116627637
21 RSPH4A NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val) SNV Uncertain significance 355120 rs61738662 GRCh37: 6:116949117-116949117
GRCh38: 6:116627954-116627954
22 RSPH4A NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser) SNV Uncertain significance 193128 rs762313827 GRCh37: 6:116938436-116938436
GRCh38: 6:116617273-116617273
23 RSPH4A NM_001010892.3(RSPH4A):c.1662+15C>T SNV Uncertain significance 227901 rs183372450 GRCh37: 6:116949547-116949547
GRCh38: 6:116628384-116628384
24 RSPH4A NM_001010892.3(RSPH4A):c.1843C>G (p.Leu615Val) SNV Uncertain significance 355123 rs886060994 GRCh37: 6:116951642-116951642
GRCh38: 6:116630479-116630479
25 RSPH4A NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu) SNV Uncertain significance 905826 GRCh37: 6:116949348-116949348
GRCh38: 6:116628185-116628185
26 RSPH4A NM_001010892.3(RSPH4A):c.*469T>C SNV Uncertain significance 905884 GRCh37: 6:116954073-116954073
GRCh38: 6:116632910-116632910
27 RSPH4A NM_001010892.3(RSPH4A):c.*224C>T SNV Uncertain significance 355128 rs886060996 GRCh37: 6:116953828-116953828
GRCh38: 6:116632665-116632665
28 RSPH4A NM_001010892.3(RSPH4A):c.1559G>A (p.Arg520Gln) SNV Uncertain significance 355122 rs148954304 GRCh37: 6:116949429-116949429
GRCh38: 6:116628266-116628266
29 RSPH4A NM_001010892.3(RSPH4A):c.*500G>A SNV Uncertain significance 355132 rs886060997 GRCh37: 6:116954104-116954104
GRCh38: 6:116632941-116632941
30 RSPH4A NM_001010892.3(RSPH4A):c.*277A>G SNV Uncertain significance 355129 rs148830140 GRCh37: 6:116953881-116953881
GRCh38: 6:116632718-116632718
31 RSPH4A NM_001010892.3(RSPH4A):c.-88A>G SNV Uncertain significance 355117 rs780704629 GRCh37: 6:116937699-116937699
GRCh38: 6:116616536-116616536
32 RSPH4A NM_001010892.3(RSPH4A):c.*64A>C SNV Uncertain significance 355127 rs143307769 GRCh37: 6:116953668-116953668
GRCh38: 6:116632505-116632505
33 RSPH4A NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=) SNV Uncertain significance 903939 GRCh37: 6:116943955-116943955
GRCh38: 6:116622792-116622792
34 RSPH4A NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu) SNV Uncertain significance 903940 GRCh37: 6:116949204-116949204
GRCh38: 6:116628041-116628041
35 RSPH4A NM_001010892.3(RSPH4A):c.*223A>T SNV Uncertain significance 904009 GRCh37: 6:116953827-116953827
GRCh38: 6:116632664-116632664
36 RSPH4A NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=) SNV Uncertain significance 906335 GRCh37: 6:116950831-116950831
GRCh38: 6:116629668-116629668
37 RSPH4A NM_001010892.3(RSPH4A):c.1828C>T (p.Arg610Trp) SNV Uncertain significance 906336 GRCh37: 6:116951627-116951627
GRCh38: 6:116630464-116630464
38 RSPH4A NM_001010892.3(RSPH4A):c.-50T>C SNV Uncertain significance 907279 GRCh37: 6:116937737-116937737
GRCh38: 6:116616574-116616574
39 RSPH4A NM_001010892.3(RSPH4A):c.198A>G (p.Arg66=) SNV Uncertain significance 907280 GRCh37: 6:116937984-116937984
GRCh38: 6:116616821-116616821
40 RSPH4A NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu) SNV Uncertain significance 907281 GRCh37: 6:116938073-116938073
GRCh38: 6:116616910-116616910
41 RSPH4A NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr) SNV Uncertain significance 907282 GRCh37: 6:116938372-116938372
GRCh38: 6:116617209-116617209
42 RSPH4A NM_001010892.3(RSPH4A):c.1875A>G (p.Gln625=) SNV Uncertain significance 907341 GRCh37: 6:116951674-116951674
GRCh38: 6:116630511-116630511
43 RSPH4A NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His) SNV Uncertain significance 907342 GRCh37: 6:116953422-116953422
GRCh38: 6:116632259-116632259
44 RSPH4A NM_001010892.3(RSPH4A):c.2081A>G (p.Glu694Gly) SNV Uncertain significance 907343 GRCh37: 6:116953534-116953534
GRCh38: 6:116632371-116632371
45 RSPH4A NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=) SNV Uncertain significance 695727 rs563352149 GRCh37: 6:116949247-116949247
GRCh38: 6:116628084-116628084
46 RSPH4A NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=) SNV Uncertain significance 257048 rs143732959 GRCh37: 6:116949433-116949433
GRCh38: 6:116628270-116628270
47 RSPH4A NM_001010892.3(RSPH4A):c.*8A>G SNV Likely benign 227053 rs575857124 GRCh37: 6:116953612-116953612
GRCh38: 6:116632449-116632449
48 RSPH4A NM_001010892.3(RSPH4A):c.*250G>T SNV Likely benign 904010 GRCh37: 6:116953854-116953854
GRCh38: 6:116632691-116632691
49 RSPH4A NM_001010892.3(RSPH4A):c.*491T>C SNV Likely benign 905885 GRCh37: 6:116954095-116954095
GRCh38: 6:116632932-116632932
50 RSPH4A NM_001010892.3(RSPH4A):c.1798+11G>A SNV Likely benign 227054 rs41290844 GRCh37: 6:116950876-116950876
GRCh38: 6:116629713-116629713
51 RSPH4A NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His) SNV Likely benign 165059 rs41289942 GRCh37: 6:116943975-116943975
GRCh38: 6:116622812-116622812
52 RSPH4A NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) SNV Likely benign 197171 rs73765819 GRCh37: 6:116950798-116950798
GRCh38: 6:116629635-116629635
53 RSPH4A NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile) SNV Likely benign 178801 rs117169123 GRCh37: 6:116949359-116949359
GRCh38: 6:116628196-116628196
54 RSPH4A NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=) SNV Likely benign 93465 rs112350099 GRCh37: 6:116937930-116937930
GRCh38: 6:116616767-116616767
55 RSPH4A NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His) SNV Benign 165060 rs6927567 GRCh37: 6:116950734-116950734
GRCh38: 6:116629571-116629571
56 RSPH4A NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro) SNV Benign 165061 rs784133 GRCh37: 6:116950833-116950833
GRCh38: 6:116629670-116629670
57 RSPH4A NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His) SNV Benign 165062 rs9488991 GRCh37: 6:116951678-116951678
GRCh38: 6:116630515-116630515
58 RSPH4A NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser) SNV Benign 178799 rs13213314 GRCh37: 6:116938232-116938232
GRCh38: 6:116617069-116617069
59 RSPH4A NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val) SNV Benign 227055 rs9488992 GRCh37: 6:116953552-116953552
GRCh38: 6:116632389-116632389
60 RSPH4A NM_001010892.3(RSPH4A):c.*465T>C SNV Benign 355131 rs6925922 GRCh37: 6:116954069-116954069
GRCh38: 6:116632906-116632906
61 RSPH4A NM_001010892.3(RSPH4A):c.*436A>C SNV Benign 355130 rs9488993 GRCh37: 6:116954040-116954040
GRCh38: 6:116632877-116632877
62 RSPH4A NM_001010892.3(RSPH4A):c.1662+2_1662+5del Deletion not provided 441117 rs768986129 GRCh37: 6:116949531-116949534
GRCh38: 6:116628368-116628371

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

72 (showing 1, show less)
# 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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