CILD28
MCID: CLR094
MIFTS: 27

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 57 74 29 6 72
Cild28 57 12 74
Primary Ciliary Dyskinesia 28 with or Without Situs Inversus 12 74
Ciliary Dyskinesia, Primary, 28, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 28 40
Primary Ciliary Dyskinesia 28 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or neonatal period


HPO:

32
ciliary dyskinesia, primary, 28:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110607
MeSH 44 D007619
ICD10 33 Q34.8
UMLS 72 C3809706

Summaries for Ciliary Dyskinesia, Primary, 28

OMIM : 57 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, also known as cild28, is related to epilepsy, nocturnal frontal lobe, 5. 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 : 74 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

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3 Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7 Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9 Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17 Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19 Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27 Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32 Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34 Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37 Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Primary, 39 Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 28 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 5 9.1 SPAG1 LOC105375668

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 28

Human phenotypes related to Ciliary Dyskinesia, Primary, 28:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 situs inversus totalis 32 HP:0001696
3 bronchiectasis 32 HP:0002110
4 chronic bronchitis 32 HP:0004469
5 rhinitis 32 HP:0012384
6 ciliary dyskinesia 32 HP:0012265
7 recurrent sinusitis 32 HP:0011108
8 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073

Symptoms via clinical synopsis from OMIM:

57
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. 8 71
24055112 2013
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
5
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 28

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

6 (show top 50) (show all 92)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SPAG1 NM_172218.2(SPAG1): c.325_326del (p.Glu109fs) deletion Pathogenic rs1060503107 8:101190068-101190069 8:100177840-100177841
2 SPAG1 NC_000008.10: g.(?_101174507)_(101174648_?)del deletion Pathogenic 8:101174507-101174648 8:100162279-100162420
3 SPAG1 NM_172218.2(SPAG1): c.319A> T (p.Lys107Ter) single nucleotide variant Pathogenic rs752479330 8:101190062-101190062 8:100177834-100177834
4 SPAG1 NM_172218.2(SPAG1): c.1519dup (p.Ile507fs) duplication Pathogenic rs763569711 8:101226130-101226130 8:100213902-100213902
5 SPAG1 deletion Pathogenic
6 SPAG1 NM_172218.2(SPAG1): c.1156C> T (p.Gln386Ter) single nucleotide variant Pathogenic rs1229952265 8:101225377-101225377 8:100213149-100213149
7 SPAG1 NM_172218.2(SPAG1): c.311C> A (p.Ser104Ter) single nucleotide variant Pathogenic rs1275662909 8:101190054-101190054 8:100177826-100177826
8 SPAG1 NM_172218.2(SPAG1): c.1864dup (p.Thr622fs) duplication Pathogenic rs1380083184 8:101243392-101243392 8:100231164-100231164
9 SPAG1 NM_172218.2(SPAG1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs397518458 8:101174510-101174510 8:100162282-100162282
10 SPAG1 NC_000008.11: g.100151617_100163589del deletion Pathogenic 8:101163845-101175817 8:100151617-100163589
11 SPAG1 NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter) single nucleotide variant Pathogenic rs201740530 8:101245664-101245664 8:100233436-100233436
12 SPAG1 NM_172218.2(SPAG1): c.2083_2084TA[1] (p.Tyr695_Arg696delinsTer) short repeat Pathogenic 8:101245735-101245736 8:100233507-100233508
13 SPAG1 NM_172218.2(SPAG1): c.1663C> T (p.Gln555Ter) single nucleotide variant Pathogenic 8:101232634-101232634 8:100220406-100220406
14 SPAG1 NC_000008.10: g.(?_101199328)_(101199498_?)del deletion Pathogenic 8:101199328-101199498 8:100187100-100187270
15 SPAG1 NM_172218.2(SPAG1): c.427-1065_630del deletion Pathogenic 8:101194532-101196884 8:100182304-100184656
16 SPAG1 NM_172218.2(SPAG1): c.140+1G> A single nucleotide variant Likely pathogenic rs1060503104 8:101174649-101174649 8:100162421-100162421
17 SPAG1 NM_172218.2(SPAG1): c.713C> T (p.Ala238Val) single nucleotide variant Uncertain significance rs755306741 8:101199359-101199359 8:100187131-100187131
18 SPAG1 NM_172218.2(SPAG1): c.734A> G (p.Tyr245Cys) single nucleotide variant Uncertain significance rs372197260 8:101199380-101199380 8:100187152-100187152
19 SPAG1 NM_172218.2(SPAG1): c.1229C> G (p.Pro410Arg) single nucleotide variant Uncertain significance rs971341609 8:101225450-101225450 8:100213222-100213222
20 SPAG1 NM_172218.2(SPAG1): c.1042G> A (p.Glu348Lys) single nucleotide variant Uncertain significance rs1060503106 8:101206442-101206442 8:100194214-100194214
21 SPAG1 NM_172218.2(SPAG1): c.1954A> T (p.Ile652Phe) single nucleotide variant Uncertain significance rs143621160 8:101243482-101243482 8:100231254-100231254
22 SPAG1 NM_172218.2(SPAG1): c.2707G> A (p.Asp903Asn) single nucleotide variant Uncertain significance rs148756457 8:101253176-101253176 8:100240948-100240948
23 SPAG1 NM_172218.2(SPAG1): c.2515A> T (p.Met839Leu) single nucleotide variant Uncertain significance rs142674953 8:101252865-101252865 8:100240637-100240637
24 SPAG1 NM_172218.2(SPAG1): c.1293_1316del (p.Ala432_Gly439del) deletion Uncertain significance rs781380303 8:101225514-101225537 8:100213286-100213309
25 SPAG1 NM_172218.2(SPAG1): c.1307C> T (p.Pro436Leu) single nucleotide variant Uncertain significance rs761617724 8:101225528-101225528 8:100213300-100213300
26 SPAG1 NM_172218.2(SPAG1): c.2256G> C (p.Glu752Asp) single nucleotide variant Uncertain significance rs1478952612 8:101251608-101251608 8:100239380-100239380
27 SPAG1 NM_172218.2(SPAG1): c.2265A> T (p.Lys755Asn) single nucleotide variant Uncertain significance rs148883126 8:101251617-101251617 8:100239389-100239389
28 SPAG1 NM_172218.2(SPAG1): c.2330_2331inv (p.Met777Thr) inversion Uncertain significance 8:101252680-101252681 8:100240452-100240453
29 SPAG1 NM_172218.2(SPAG1): c.141A> T (p.Arg47Ser) single nucleotide variant Uncertain significance rs529265811 8:101178042-101178042 8:100165814-100165814
30 SPAG1 NM_172218.2(SPAG1): c.427-3T> C single nucleotide variant Uncertain significance rs778136474 8:101195600-101195600 8:100183372-100183372
31 SPAG1 NM_172218.2(SPAG1): c.2512C> T (p.Pro838Ser) single nucleotide variant Uncertain significance 8:101252862-101252862 8:100240634-100240634
32 SPAG1 NM_172218.2(SPAG1): c.890A> G (p.Glu297Gly) single nucleotide variant Uncertain significance 8:101203675-101203675 8:100191447-100191447
33 SPAG1 NM_172218.2(SPAG1): c.2084A> G (p.Tyr695Cys) single nucleotide variant Uncertain significance 8:101245734-101245734 8:100233506-100233506
34 SPAG1 NM_172218.2(SPAG1): c.422G> A (p.Gly141Asp) single nucleotide variant Uncertain significance 8:101190165-101190165 8:100177937-100177937
35 SPAG1 NM_172218.2(SPAG1): c.842G> A (p.Arg281His) single nucleotide variant Uncertain significance 8:101203627-101203627 8:100191399-100191399
36 SPAG1 NM_172218.2(SPAG1): c.2717A> G (p.Asp906Gly) single nucleotide variant Uncertain significance 8:101253186-101253186 8:100240958-100240958
37 SPAG1 NM_172218.2(SPAG1): c.105T> G (p.Asp35Glu) single nucleotide variant Uncertain significance 8:101174613-101174613 8:100162385-100162385
38 SPAG1 NM_172218.2(SPAG1): c.146G> A (p.Gly49Asp) single nucleotide variant Uncertain significance 8:101178047-101178047 8:100165819-100165819
39 SPAG1 NM_172218.2(SPAG1): c.878G> A (p.Arg293Gln) single nucleotide variant Uncertain significance 8:101203663-101203663 8:100191435-100191435
40 SPAG1 NM_172218.2(SPAG1): c.1271C> G (p.Ala424Gly) single nucleotide variant Uncertain significance 8:101225492-101225492 8:100213264-100213264
41 SPAG1 NM_172218.2(SPAG1): c.1103C> T (p.Ala368Val) single nucleotide variant Uncertain significance rs752257877 8:101225324-101225324 8:100213096-100213096
42 SPAG1 NM_172218.2(SPAG1): c.1360G> C (p.Glu454Gln) single nucleotide variant Uncertain significance rs878855237 8:101225581-101225581 8:100213353-100213353
43 SPAG1 NM_172218.2(SPAG1): c.2399T> C (p.Ile800Thr) single nucleotide variant Uncertain significance rs199998543 8:101252749-101252749 8:100240521-100240521
44 SPAG1 NM_172218.2(SPAG1): c.2728A> C (p.Asn910His) single nucleotide variant Uncertain significance rs1054502421 8:101253197-101253197 8:100240969-100240969
45 SPAG1 NM_172218.2(SPAG1): c.560A> C (p.His187Pro) single nucleotide variant Uncertain significance rs140986857 8:101196255-101196255 8:100184027-100184027
46 SPAG1 NM_172218.2(SPAG1): c.2623T> C (p.Tyr875His) single nucleotide variant Uncertain significance rs1161354171 8:101252973-101252973 8:100240745-100240745
47 SPAG1 NM_172218.2(SPAG1): c.476C> T (p.Ala159Val) single nucleotide variant Uncertain significance rs370505284 8:101195652-101195652 8:100183424-100183424
48 SPAG1 NM_172218.2(SPAG1): c.1271_1273CGG[6] (p.Ala428dup) short repeat Uncertain significance rs962670800 8:101225504-101225506 8:100213276-100213278
49 SPAG1 NM_172218.2(SPAG1): c.1562T> C (p.Met521Thr) single nucleotide variant Uncertain significance rs140258045 8:101232533-101232533 8:100220305-100220305
50 SPAG1 NM_172218.2(SPAG1): c.1679G> A (p.Ser560Asn) single nucleotide variant Uncertain significance rs772718898 8:101232650-101232650 8:100220422-100220422

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....