CILD28
MCID: CLR094
MIFTS: 25

Ciliary Dyskinesia, Primary, 28 (CILD28)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 28

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 28:

Name: Ciliary Dyskinesia, Primary, 28 56 73 29 6 71
Cild28 56 12 73
Primary Ciliary Dyskinesia 28 with or Without Situs Inversus 12 73
Ciliary Dyskinesia, Primary, 28, with or Without Situs Inversus 56
Dyskinesia, Ciliary, Primary, 28 39
Primary Ciliary Dyskinesia 28 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or neonatal period


HPO:

31
ciliary dyskinesia, primary, 28:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110607
OMIM 56 615505
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
UMLS 71 C3809706

Summaries for Ciliary Dyskinesia, Primary, 28

OMIM : 56 Primary ciliary dyskinesia-28 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by Knowles et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (615505)

MalaCards based summary : Ciliary Dyskinesia, Primary, 28, is also known as cild28. An important gene associated with Ciliary Dyskinesia, Primary, 28 is SPAG1 (Sperm Associated Antigen 1). Related phenotypes are recurrent otitis media and situs inversus totalis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has material basis in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 28: 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. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

Related Diseases for Ciliary Dyskinesia, Primary, 28

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 28

Human phenotypes related to Ciliary Dyskinesia, Primary, 28:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 HP:0000403
2 situs inversus totalis 31 HP:0001696
3 bronchiectasis 31 HP:0002110
4 chronic bronchitis 31 HP:0004469
5 rhinitis 31 HP:0012384
6 ciliary dyskinesia 31 HP:0012265
7 recurrent sinusitis 31 HP:0011108
8 respiratory insufficiency due to defective ciliary clearance 31 HP:0200073

Symptoms via clinical synopsis from OMIM:

56
Respiratory Airways:
chronic bronchitis

Head And Neck Head:
sinusitis, recurrent

Laboratory Abnormalities:
decreased nasal nitric oxide
electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms
decreased ciliary motility

Abdomen:
situs inversus (in about 50% of patients)

Respiratory:
respiratory insufficiency due to defective ciliary clearance
respiratory infections, recurrent

Head And Neck Ears:
otitis media, recurrent

Head And Neck Nose:
rhinitis, recurrent

Clinical features from OMIM:

615505

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 28

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 28

Genetic Tests for Ciliary Dyskinesia, Primary, 28

Genetic tests related to Ciliary Dyskinesia, Primary, 28:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 28 29 SPAG1

Anatomical Context for Ciliary Dyskinesia, Primary, 28

Publications for Ciliary Dyskinesia, Primary, 28

Articles related to Ciliary Dyskinesia, Primary, 28:

# Title Authors PMID Year
1
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 56 6
24055112 2013
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
5
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 28

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 28:

6 (show top 50) (show all 70) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPAG1 NM_003114.4(SPAG1):c.2T>G (p.Met1Arg)SNV Pathogenic 88680 rs397518458 8:101174510-101174510 8:100162282-100162282
2 SPAG1 NC_000008.11:g.100151617_100163589deldeletion Pathogenic 88681 8:101163845-101175817 8:100151617-100163589
3 SPAG1 NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter)SNV Pathogenic 88683 rs201740530 8:101245664-101245664 8:100233436-100233436
4 SPAG1 NM_003114.4(SPAG1):c.325_326del (p.Glu109fs)deletion Pathogenic 411002 rs1060503107 8:101190067-101190068 8:100177839-100177840
5 SPAG1 NC_000008.10:g.(?_101174507)_(101174648_?)deldeletion Pathogenic 417543 8:101174507-101174648 8:100162279-100162420
6 SPAG1 NM_172218.2(SPAG1):c.319A>T (p.Lys107Ter)SNV Pathogenic 410980 rs752479330 8:101190062-101190062 8:100177834-100177834
7 SPAG1 NM_003114.4(SPAG1):c.1519dup (p.Ile507fs)duplication Pathogenic 410993 rs763569711 8:101226129-101226130 8:100213901-100213902
8 SPAG1 NM_172218.2(SPAG1):c.1156C>T (p.Gln386Ter)SNV Pathogenic 474648 rs1229952265 8:101225377-101225377 8:100213149-100213149
9 SPAG1 NM_003114.4(SPAG1):c.1864dup (p.Thr622fs)duplication Pathogenic 541532 rs1380083184 8:101243386-101243387 8:100231158-100231159
10 SPAG1 NM_003114.4(SPAG1):c.2083_2084TA[1] (p.Tyr695_Arg696delinsTer)short repeat Pathogenic 575027 rs1563815206 8:101245733-101245734 8:100233505-100233506
11 SPAG1 NM_172218.2(SPAG1):c.1663C>T (p.Gln555Ter)SNV Pathogenic 648143 8:101232634-101232634 8:100220406-100220406
12 SPAG1 deletion Pathogenic 474645 8:100162261-100162440
13 SPAG1 NM_172218.2(SPAG1):c.311C>A (p.Ser104Ter)SNV Pathogenic 474661 rs1275662909 8:101190054-101190054 8:100177826-100177826
14 SPAG1 NC_000008.10:g.(?_101199328)_(101199498_?)deldeletion Pathogenic 666216 8:101199328-101199498 8:100187100-100187270
15 SPAG1 NM_172218.2(SPAG1):c.427-1065_630deldeletion Pathogenic 662557 8:101194532-101196884 8:100182304-100184656
16 SPAG1 NM_172218.2(SPAG1):c.140+1G>ASNV Likely pathogenic 410992 rs1060503104 8:101174649-101174649 8:100162421-100162421
17 SPAG1 NM_172218.2(SPAG1):c.713C>T (p.Ala238Val)SNV Uncertain significance 410996 rs755306741 8:101199359-101199359 8:100187131-100187131
18 SPAG1 NM_172218.2(SPAG1):c.734A>G (p.Tyr245Cys)SNV Uncertain significance 411001 rs372197260 8:101199380-101199380 8:100187152-100187152
19 SPAG1 NM_172218.2(SPAG1):c.1229C>G (p.Pro410Arg)SNV Uncertain significance 410991 rs971341609 8:101225450-101225450 8:100213222-100213222
20 SPAG1 NM_172218.2(SPAG1):c.2707G>A (p.Asp903Asn)SNV Uncertain significance 403466 rs148756457 8:101253176-101253176 8:100240948-100240948
21 SPAG1 NM_172218.2(SPAG1):c.2515A>T (p.Met839Leu)SNV Uncertain significance 411000 rs142674953 8:101252865-101252865 8:100240637-100240637
22 SPAG1 NM_172218.2(SPAG1):c.1042G>A (p.Glu348Lys)SNV Uncertain significance 410999 rs1060503106 8:101206442-101206442 8:100194214-100194214
23 SPAG1 NM_172218.2(SPAG1):c.1954A>T (p.Ile652Phe)SNV Uncertain significance 410998 rs143621160 8:101243482-101243482 8:100231254-100231254
24 SPAG1 NM_172218.2(SPAG1):c.205G>A (p.Ala69Thr)SNV Uncertain significance 242014 rs149271265 8:101178106-101178106 8:100165878-100165878
25 SPAG1 NM_172218.2(SPAG1):c.1360G>C (p.Glu454Gln)SNV Uncertain significance 242011 rs878855237 8:101225581-101225581 8:100213353-100213353
26 SPAG1 NM_172218.2(SPAG1):c.2623T>C (p.Tyr875His)SNV Uncertain significance 474660 rs1161354171 8:101252973-101252973 8:100240745-100240745
27 SPAG1 NM_172218.2(SPAG1):c.1562T>C (p.Met521Thr)SNV Uncertain significance 474654 rs140258045 8:101232533-101232533 8:100220305-100220305
28 SPAG1 NM_172218.2(SPAG1):c.476C>T (p.Ala159Val)SNV Uncertain significance 474663 rs370505284 8:101195652-101195652 8:100183424-100183424
29 SPAG1 NM_003114.4(SPAG1):c.1271_1273CGG[6] (p.Ala428dup)short repeat Uncertain significance 474649 rs962670800 8:101225490-101225491 8:100213262-100213263
30 SPAG1 NM_172218.2(SPAG1):c.1679G>A (p.Ser560Asn)SNV Uncertain significance 474655 rs772718898 8:101232650-101232650 8:100220422-100220422
31 SPAG1 NM_172218.2(SPAG1):c.1730G>A (p.Arg577Gln)SNV Uncertain significance 474657 rs774918839 8:101237442-101237442 8:100225214-100225214
32 SPAG1 NM_172218.2(SPAG1):c.419T>C (p.Val140Ala)SNV Uncertain significance 541530 rs895776124 8:101190162-101190162 8:100177934-100177934
33 SPAG1 NM_003114.4(SPAG1):c.2330_2331inv (p.Met777Thr)inversion Uncertain significance 410997 8:101252680-101252681 8:100240452-100240453
34 SPAG1 NM_172218.2(SPAG1):c.141A>T (p.Arg47Ser)SNV Uncertain significance 474653 rs529265811 8:101178042-101178042 8:100165814-100165814
35 SPAG1 NM_172218.2(SPAG1):c.427-3T>CSNV Uncertain significance 474662 rs778136474 8:101195600-101195600 8:100183372-100183372
36 SPAG1 NM_003114.4(SPAG1):c.1293_1316del (p.Ala432_Gly439del)deletion Uncertain significance 474650 rs781380303 8:101225504-101225527 8:100213276-100213299
37 SPAG1 NM_172218.2(SPAG1):c.1307C>T (p.Pro436Leu)SNV Uncertain significance 474651 rs761617724 8:101225528-101225528 8:100213300-100213300
38 SPAG1 NM_172218.2(SPAG1):c.2256G>C (p.Glu752Asp)SNV Uncertain significance 474659 rs1478952612 8:101251608-101251608 8:100239380-100239380
39 SPAG1 NM_172218.2(SPAG1):c.1848C>T (p.Gly616=)SNV Uncertain significance 655960 8:101237560-101237560 8:100225332-100225332
40 SPAG1 NM_172218.2(SPAG1):c.2189A>C (p.Glu730Ala)SNV Uncertain significance 642756 8:101251541-101251541 8:100239313-100239313
41 SPAG1 NM_172218.2(SPAG1):c.2386G>A (p.Glu796Lys)SNV Uncertain significance 653923 8:101252736-101252736 8:100240508-100240508
42 SPAG1 NM_172218.2(SPAG1):c.2633A>C (p.Lys878Thr)SNV Uncertain significance 660297 8:101252983-101252983 8:100240755-100240755
43 SPAG1 NM_172218.2(SPAG1):c.2752C>T (p.Gln918Ter)SNV Uncertain significance 661998 8:101253221-101253221 8:100240993-100240993
44 SPAG1 NM_172218.2(SPAG1):c.560A>C (p.His187Pro)SNV Uncertain significance 541533 rs140986857 8:101196255-101196255 8:100184027-100184027
45 SPAG1 NM_172218.2(SPAG1):c.2512C>T (p.Pro838Ser)SNV Uncertain significance 572877 rs1563820253 8:101252862-101252862 8:100240634-100240634
46 SPAG1 NM_172218.2(SPAG1):c.890A>G (p.Glu297Gly)SNV Uncertain significance 567237 rs779765255 8:101203675-101203675 8:100191447-100191447
47 SPAG1 NM_172218.2(SPAG1):c.2084A>G (p.Tyr695Cys)SNV Uncertain significance 577062 rs146786187 8:101245734-101245734 8:100233506-100233506
48 SPAG1 NM_172218.2(SPAG1):c.422G>A (p.Gly141Asp)SNV Uncertain significance 582407 rs1345807674 8:101190165-101190165 8:100177937-100177937
49 SPAG1 NM_172218.2(SPAG1):c.842G>A (p.Arg281His)SNV Uncertain significance 576795 rs369126472 8:101203627-101203627 8:100191399-100191399
50 SPAG1 NM_172218.2(SPAG1):c.2717A>G (p.Asp906Gly)SNV Uncertain significance 569851 rs199727770 8:101253186-101253186 8:100240958-100240958

Expression for Ciliary Dyskinesia, Primary, 28

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 28.

Pathways for Ciliary Dyskinesia, Primary, 28

GO Terms for Ciliary Dyskinesia, Primary, 28

Sources for Ciliary Dyskinesia, Primary, 28

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