MCID: CLR094
MIFTS: 23

Ciliary Dyskinesia, Primary, 28

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 28

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 28:

Name: Ciliary Dyskinesia, Primary, 28 57 75 29 6 73
Cild28 57 12 75
Primary Ciliary Dyskinesia 28 with or Without Situs Inversus 12 75
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:

OMIM 57 615505
Disease Ontology 12 DOID:0110607
ICD10 33 Q34.8
MeSH 44 D007619
UMLS 73 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

UniProtKB/Swiss-Prot : 75 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.

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.

Related Diseases for Ciliary Dyskinesia, Primary, 28

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 28

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sinusitis, recurrent

Head And Neck Nose:
rhinitis, recurrent

Respiratory Airways:
chronic bronchitis

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

Head And Neck Ears:
otitis media, recurrent

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

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


Clinical features from OMIM:

615505

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 recurrent sinusitis 32 HP:0011108
6 ciliary dyskinesia 32 HP:0012265
7 rhinitis 32 HP:0012384
8 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073

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

Variations for Ciliary Dyskinesia, Primary, 28

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

6
(show top 50) (show all 133)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPAG1 NM_172218.2(SPAG1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs397518458 GRCh37 Chromosome 8, 101174510: 101174510
2 SPAG1 NM_172218.2(SPAG1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic rs397518458 GRCh38 Chromosome 8, 100162282: 100162282
3 SPAG1 NC_000008.11: g.100151617_100163589del11973 deletion Pathogenic GRCh38 Chromosome 8, 100151617: 100163589
4 SPAG1 NC_000008.11: g.100151617_100163589del11973 deletion Pathogenic GRCh37 Chromosome 8, 101163845: 101175817
5 SPAG1 NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter) single nucleotide variant Pathogenic rs201740530 GRCh37 Chromosome 8, 101245664: 101245664
6 SPAG1 NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter) single nucleotide variant Pathogenic rs201740530 GRCh38 Chromosome 8, 100233436: 100233436
7 SPAG1 NM_172218.2(SPAG1): c.1059_1060insGAC (p.Lys353_Ser354insAsp) insertion Benign rs56246127 GRCh38 Chromosome 8, 100194231: 100194232
8 SPAG1 NM_172218.2(SPAG1): c.1059_1060insGAC (p.Lys353_Ser354insAsp) insertion Benign rs56246127 GRCh37 Chromosome 8, 101206459: 101206460
9 SPAG1 NM_172218.2(SPAG1): c.205G> A (p.Ala69Thr) single nucleotide variant Uncertain significance rs149271265 GRCh38 Chromosome 8, 100165878: 100165878
10 SPAG1 NM_172218.2(SPAG1): c.205G> A (p.Ala69Thr) single nucleotide variant Uncertain significance rs149271265 GRCh37 Chromosome 8, 101178106: 101178106
11 SPAG1 NM_172218.2(SPAG1): c.639G> A (p.Lys213=) single nucleotide variant Likely benign rs751691673 GRCh38 Chromosome 8, 100184671: 100184671
12 SPAG1 NM_172218.2(SPAG1): c.639G> A (p.Lys213=) single nucleotide variant Likely benign rs751691673 GRCh37 Chromosome 8, 101196899: 101196899
13 SPAG1 NM_172218.2(SPAG1): c.957T> A (p.Val319=) single nucleotide variant Benign rs146528350 GRCh37 Chromosome 8, 101206357: 101206357
14 SPAG1 NM_172218.2(SPAG1): c.957T> A (p.Val319=) single nucleotide variant Benign rs146528350 GRCh38 Chromosome 8, 100194129: 100194129
15 SPAG1 NM_172218.2(SPAG1): c.1103C> T (p.Ala368Val) single nucleotide variant Uncertain significance rs752257877 GRCh38 Chromosome 8, 100213096: 100213096
16 SPAG1 NM_172218.2(SPAG1): c.1103C> T (p.Ala368Val) single nucleotide variant Uncertain significance rs752257877 GRCh37 Chromosome 8, 101225324: 101225324
17 SPAG1 NM_172218.2(SPAG1): c.1360G> C (p.Glu454Gln) single nucleotide variant Uncertain significance rs878855237 GRCh37 Chromosome 8, 101225581: 101225581
18 SPAG1 NM_172218.2(SPAG1): c.1360G> C (p.Glu454Gln) single nucleotide variant Uncertain significance rs878855237 GRCh38 Chromosome 8, 100213353: 100213353
19 SPAG1 NM_172218.2(SPAG1): c.1414A> G (p.Ile472Val) single nucleotide variant Benign rs373038988 GRCh37 Chromosome 8, 101225635: 101225635
20 SPAG1 NM_172218.2(SPAG1): c.1414A> G (p.Ile472Val) single nucleotide variant Benign rs373038988 GRCh38 Chromosome 8, 100213407: 100213407
21 SPAG1 NM_172218.2(SPAG1): c.1586T> C (p.Met529Thr) single nucleotide variant Benign rs78436093 GRCh38 Chromosome 8, 100220329: 100220329
22 SPAG1 NM_172218.2(SPAG1): c.1586T> C (p.Met529Thr) single nucleotide variant Benign rs78436093 GRCh37 Chromosome 8, 101232557: 101232557
23 SPAG1 NM_172218.2(SPAG1): c.2714C> T (p.Ser905Leu) single nucleotide variant Likely benign rs142031266 GRCh37 Chromosome 8, 101253183: 101253183
24 SPAG1 NM_172218.2(SPAG1): c.2714C> T (p.Ser905Leu) single nucleotide variant Likely benign rs142031266 GRCh38 Chromosome 8, 100240955: 100240955
25 SPAG1 NM_172218.2(SPAG1): c.325_326delGA (p.Glu109Argfs) deletion Pathogenic rs1060503107 GRCh37 Chromosome 8, 101190068: 101190069
26 SPAG1 NM_172218.2(SPAG1): c.325_326delGA (p.Glu109Argfs) deletion Pathogenic rs1060503107 GRCh38 Chromosome 8, 100177840: 100177841
27 SPAG1 NM_172218.2(SPAG1): c.474C> T (p.Tyr158=) single nucleotide variant Benign rs74597335 GRCh38 Chromosome 8, 100183422: 100183422
28 SPAG1 NM_172218.2(SPAG1): c.474C> T (p.Tyr158=) single nucleotide variant Benign rs74597335 GRCh37 Chromosome 8, 101195650: 101195650
29 SPAG1 NM_172218.2(SPAG1): c.1042G> A (p.Glu348Lys) single nucleotide variant Uncertain significance rs1060503106 GRCh38 Chromosome 8, 100194214: 100194214
30 SPAG1 NM_172218.2(SPAG1): c.1042G> A (p.Glu348Lys) single nucleotide variant Uncertain significance rs1060503106 GRCh37 Chromosome 8, 101206442: 101206442
31 SPAG1 NM_172218.2(SPAG1): c.1584G> A (p.Ala528=) single nucleotide variant Benign rs35252724 GRCh38 Chromosome 8, 100220327: 100220327
32 SPAG1 NM_172218.2(SPAG1): c.1584G> A (p.Ala528=) single nucleotide variant Benign rs35252724 GRCh37 Chromosome 8, 101232555: 101232555
33 SPAG1 NM_172218.2(SPAG1): c.1954A> T (p.Ile652Phe) single nucleotide variant Uncertain significance rs143621160 GRCh38 Chromosome 8, 100231254: 100231254
34 SPAG1 NM_172218.2(SPAG1): c.1954A> T (p.Ile652Phe) single nucleotide variant Uncertain significance rs143621160 GRCh37 Chromosome 8, 101243482: 101243482
35 SPAG1 NM_172218.2(SPAG1): c.301-8A> G single nucleotide variant Likely benign rs371427575 GRCh37 Chromosome 8, 101190036: 101190036
36 SPAG1 NM_172218.2(SPAG1): c.301-8A> G single nucleotide variant Likely benign rs371427575 GRCh38 Chromosome 8, 100177808: 100177808
37 SPAG1 NM_172218.2(SPAG1): c.669A> G (p.Gly223=) single nucleotide variant Benign rs35592493 GRCh37 Chromosome 8, 101196929: 101196929
38 SPAG1 NM_172218.2(SPAG1): c.669A> G (p.Gly223=) single nucleotide variant Benign rs35592493 GRCh38 Chromosome 8, 100184701: 100184701
39 SPAG1 NM_172218.2(SPAG1): c.2515A> T (p.Met839Leu) single nucleotide variant Uncertain significance rs142674953 GRCh37 Chromosome 8, 101252865: 101252865
40 SPAG1 NM_172218.2(SPAG1): c.2515A> T (p.Met839Leu) single nucleotide variant Uncertain significance rs142674953 GRCh38 Chromosome 8, 100240637: 100240637
41 SPAG1 NC_000008.11: g.(?_100162279)_(100162420_?)del deletion Pathogenic GRCh37 Chromosome 8, 101174507: 101174648
42 SPAG1 NC_000008.11: g.(?_100162279)_(100162420_?)del deletion Pathogenic GRCh38 Chromosome 8, 100162279: 100162420
43 SPAG1 NM_172218.2(SPAG1): c.319A> T (p.Lys107Ter) single nucleotide variant Pathogenic rs752479330 GRCh37 Chromosome 8, 101190062: 101190062
44 SPAG1 NM_172218.2(SPAG1): c.319A> T (p.Lys107Ter) single nucleotide variant Pathogenic rs752479330 GRCh38 Chromosome 8, 100177834: 100177834
45 SPAG1 NM_172218.2(SPAG1): c.1226C> G (p.Thr409Ser) single nucleotide variant Likely benign rs544372581 GRCh37 Chromosome 8, 101225447: 101225447
46 SPAG1 NM_172218.2(SPAG1): c.1226C> G (p.Thr409Ser) single nucleotide variant Likely benign rs544372581 GRCh38 Chromosome 8, 100213219: 100213219
47 SPAG1 NM_172218.2(SPAG1): c.1536-9C> G single nucleotide variant Benign rs112884253 GRCh37 Chromosome 8, 101232498: 101232498
48 SPAG1 NM_172218.2(SPAG1): c.1536-9C> G single nucleotide variant Benign rs112884253 GRCh38 Chromosome 8, 100220270: 100220270
49 SPAG1 NM_172218.2(SPAG1): c.2769G> A (p.Gln923=) single nucleotide variant Likely benign rs768865173 GRCh37 Chromosome 8, 101253238: 101253238
50 SPAG1 NM_172218.2(SPAG1): c.2769G> A (p.Gln923=) single nucleotide variant Likely benign rs768865173 GRCh38 Chromosome 8, 100241010: 100241010

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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