CILD33
MCID: CLR125
MIFTS: 22

Ciliary Dyskinesia, Primary, 33 (CILD33)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 33

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 33:

Name: Ciliary Dyskinesia, Primary, 33 57 75 29 6
Cild33 57 12 75
Ciliary Dyskinesia, Primary, 33, Without Situs Inversus 57 75
Primary Ciliary Dyskinesia 33 Without Situs Inversus 12
Primary Ciliary Dyskinesia 33 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
three unrelated probands have been reported (last curated january 2016)


HPO:

32
ciliary dyskinesia, primary, 33:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 33

OMIM : 57 Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (616726)

MalaCards based summary : Ciliary Dyskinesia, Primary, 33, is also known as cild33. An important gene associated with Ciliary Dyskinesia, Primary, 33 is GAS8 (Growth Arrest Specific 8). Affiliated tissues include lung, and related phenotypes are recurrent otitis media and conductive hearing impairment

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has material basis in homozygous mutation in the GAS8 gene on chromosome 16q24.

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 33: A form of primary ciliary dyskinesia, 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. CILD33 inheritance is autosomal recessive.

Related Diseases for Ciliary Dyskinesia, Primary, 33

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 33

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
atelectasis
bronchiectasis

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

Head And Neck Ears:
otitis media, recurrent
conductive hearing loss (in some patients)

Laboratory Abnormalities:
decreased nasal nitric oxide (no) levels
respiratory epithelial cell cilia show subtle beating defects
cilia show increased frequency misaligned outer doublets


Clinical features from OMIM:

616726

Human phenotypes related to Ciliary Dyskinesia, Primary, 33:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 conductive hearing impairment 32 HP:0000405
3 atelectasis 32 HP:0100750
4 recurrent pneumonia 32 HP:0006532
5 cough 32 HP:0012735
6 bronchiectasis 32 HP:0002110
7 chronic rhinitis 32 HP:0002257
8 ciliary dyskinesia 32 HP:0012265
9 recurrent bronchitis 32 HP:0002837

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 33

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 33

Genetic Tests for Ciliary Dyskinesia, Primary, 33

Genetic tests related to Ciliary Dyskinesia, Primary, 33:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 33 29 GAS8

Anatomical Context for Ciliary Dyskinesia, Primary, 33

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 33:

41
Lung

Publications for Ciliary Dyskinesia, Primary, 33

Variations for Ciliary Dyskinesia, Primary, 33

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 33:

75
# Symbol AA change Variation ID SNP ID
1 GAS8 p.Ala391Val VAR_080338 rs147993982

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 33:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAS8 NM_001286209.1(GAS8): c.852C> A (p.Cys284Ter) single nucleotide variant Pathogenic rs748688175 GRCh37 Chromosome 16, 90104172: 90104172
2 GAS8 NM_001286209.1(GAS8): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs755553133 GRCh37 Chromosome 16, 90104245: 90104245
3 GAS8 NM_001286209.1(GAS8): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs755553133 GRCh38 Chromosome 16, 90037837: 90037837
4 GAS8 NM_001286209.1(GAS8): c.852C> A (p.Cys284Ter) single nucleotide variant Pathogenic rs748688175 GRCh38 Chromosome 16, 90037764: 90037764
5 GAS8 NM_001286209.1(GAS8): c.994C> T (p.Gln332Ter) single nucleotide variant Pathogenic rs566755911 GRCh38 Chromosome 16, 90040357: 90040357
6 GAS8 NM_001286209.1(GAS8): c.994C> T (p.Gln332Ter) single nucleotide variant Pathogenic rs566755911 GRCh37 Chromosome 16, 90106765: 90106765
7 GAS8 NC_000016.10: g.(?_90022702)_(90040529_?)del deletion Pathogenic GRCh37 Chromosome 16, 90089110: 90106937
8 GAS8 NC_000016.10: g.(?_90022702)_(90040529_?)del deletion Pathogenic GRCh38 Chromosome 16, 90022702: 90040529
9 GAS8 NM_001481.2(GAS8): c.245G> A (p.Arg82Gln) single nucleotide variant Benign rs884928 GRCh37 Chromosome 16, 90097861: 90097861
10 GAS8 NM_001481.2(GAS8): c.245G> A (p.Arg82Gln) single nucleotide variant Benign rs884928 GRCh38 Chromosome 16, 90031453: 90031453
11 GAS8 NM_001481.2(GAS8): c.595G> A (p.Glu199Lys) single nucleotide variant Benign rs868044 GRCh38 Chromosome 16, 90036425: 90036425
12 GAS8 NM_001481.2(GAS8): c.595G> A (p.Glu199Lys) single nucleotide variant Benign rs868044 GRCh37 Chromosome 16, 90102833: 90102833
13 GAS8 NM_001481.2(GAS8): c.1118C> T (p.Ala373Val) single nucleotide variant Likely benign rs185608121 GRCh37 Chromosome 16, 90106814: 90106814
14 GAS8 NM_001481.2(GAS8): c.1118C> T (p.Ala373Val) single nucleotide variant Likely benign rs185608121 GRCh38 Chromosome 16, 90040406: 90040406
15 GAS8 NM_001481.2(GAS8): c.1210C> T (p.Arg404Cys) single nucleotide variant Likely benign rs143772256 GRCh37 Chromosome 16, 90106906: 90106906
16 GAS8 NM_001481.2(GAS8): c.1210C> T (p.Arg404Cys) single nucleotide variant Likely benign rs143772256 GRCh38 Chromosome 16, 90040498: 90040498
17 GAS8 NM_001481.2(GAS8): c.1236G> A (p.Ser412=) single nucleotide variant Likely benign rs377091915 GRCh37 Chromosome 16, 90108892: 90108892
18 GAS8 NM_001481.2(GAS8): c.1236G> A (p.Ser412=) single nucleotide variant Likely benign rs377091915 GRCh38 Chromosome 16, 90042484: 90042484
19 GAS8 NM_001481.2(GAS8): c.38A> G (p.Lys13Arg) single nucleotide variant Benign rs61734732 GRCh37 Chromosome 16, 90094078: 90094078
20 GAS8 NM_001481.2(GAS8): c.38A> G (p.Lys13Arg) single nucleotide variant Benign rs61734732 GRCh38 Chromosome 16, 90027670: 90027670
21 GAS8 NM_001481.2(GAS8): c.550+10C> T single nucleotide variant Benign rs77534905 GRCh37 Chromosome 16, 90102105: 90102105
22 GAS8 NM_001481.2(GAS8): c.550+10C> T single nucleotide variant Benign rs77534905 GRCh38 Chromosome 16, 90035697: 90035697
23 GAS8 NM_001481.2(GAS8): c.832C> T (p.Arg278Cys) single nucleotide variant Uncertain significance rs201993896 GRCh37 Chromosome 16, 90103715: 90103715
24 GAS8 NM_001481.2(GAS8): c.832C> T (p.Arg278Cys) single nucleotide variant Uncertain significance rs201993896 GRCh38 Chromosome 16, 90037307: 90037307
25 GAS8 NM_001481.2(GAS8): c.31A> G (p.Lys11Glu) single nucleotide variant Uncertain significance rs146066553 GRCh37 Chromosome 16, 90094071: 90094071
26 GAS8 NM_001481.2(GAS8): c.31A> G (p.Lys11Glu) single nucleotide variant Uncertain significance rs146066553 GRCh38 Chromosome 16, 90027663: 90027663
27 GAS8 NM_001481.2(GAS8): c.1297G> A (p.Asp433Asn) single nucleotide variant Uncertain significance rs150016330 GRCh37 Chromosome 16, 90109613: 90109613
28 GAS8 NM_001481.2(GAS8): c.1297G> A (p.Asp433Asn) single nucleotide variant Uncertain significance rs150016330 GRCh38 Chromosome 16, 90043205: 90043205
29 GAS8 NM_001481.2(GAS8): c.476T> A (p.Val159Glu) single nucleotide variant Benign rs116113385 GRCh37 Chromosome 16, 90099313: 90099313
30 GAS8 NM_001481.2(GAS8): c.476T> A (p.Val159Glu) single nucleotide variant Benign rs116113385 GRCh38 Chromosome 16, 90032905: 90032905
31 GAS8 NM_001481.2(GAS8): c.808G> C (p.Ala270Pro) single nucleotide variant Likely benign rs141125763 GRCh37 Chromosome 16, 90103691: 90103691
32 GAS8 NM_001481.2(GAS8): c.808G> C (p.Ala270Pro) single nucleotide variant Likely benign rs141125763 GRCh38 Chromosome 16, 90037283: 90037283
33 GAS8 NM_001481.2(GAS8): c.833G> A (p.Arg278His) single nucleotide variant Benign rs117053233 GRCh37 Chromosome 16, 90103716: 90103716
34 GAS8 NM_001481.2(GAS8): c.833G> A (p.Arg278His) single nucleotide variant Benign rs117053233 GRCh38 Chromosome 16, 90037308: 90037308
35 GAS8 NM_001481.2(GAS8): c.1011+7G> C single nucleotide variant Likely benign rs377407115 GRCh37 Chromosome 16, 90104263: 90104263
36 GAS8 NM_001481.2(GAS8): c.1011+7G> C single nucleotide variant Likely benign rs377407115 GRCh38 Chromosome 16, 90037855: 90037855
37 GAS8 NM_001481.2(GAS8): c.1106G> A (p.Arg369His) single nucleotide variant Benign rs61734730 GRCh37 Chromosome 16, 90106802: 90106802
38 GAS8 NM_001481.2(GAS8): c.1106G> A (p.Arg369His) single nucleotide variant Benign rs61734730 GRCh38 Chromosome 16, 90040394: 90040394
39 GAS8 NM_001481.2(GAS8): c.1188T> G (p.Pro396=) single nucleotide variant Benign rs61734729 GRCh37 Chromosome 16, 90106884: 90106884
40 GAS8 NM_001481.2(GAS8): c.1188T> G (p.Pro396=) single nucleotide variant Benign rs61734729 GRCh38 Chromosome 16, 90040476: 90040476
41 GAS8 NM_001481.2(GAS8): c.1221+4G> A single nucleotide variant Uncertain significance rs201588451 GRCh37 Chromosome 16, 90106921: 90106921
42 GAS8 NM_001481.2(GAS8): c.1221+4G> A single nucleotide variant Uncertain significance rs201588451 GRCh38 Chromosome 16, 90040513: 90040513
43 GAS8 NM_001481.2(GAS8): c.407G> C (p.Ser136Thr) single nucleotide variant Benign rs148760410 GRCh38 Chromosome 16, 90032836: 90032836
44 GAS8 NM_001481.2(GAS8): c.407G> C (p.Ser136Thr) single nucleotide variant Benign rs148760410 GRCh37 Chromosome 16, 90099244: 90099244
45 GAS8 NM_001481.2(GAS8): c.601G> A (p.Asp201Asn) single nucleotide variant Uncertain significance rs1039044975 GRCh37 Chromosome 16, 90102839: 90102839
46 GAS8 NM_001481.2(GAS8): c.601G> A (p.Asp201Asn) single nucleotide variant Uncertain significance rs1039044975 GRCh38 Chromosome 16, 90036431: 90036431
47 GAS8 NM_001481.2(GAS8): c.608G> A (p.Arg203Gln) single nucleotide variant Uncertain significance rs747875715 GRCh37 Chromosome 16, 90102846: 90102846
48 GAS8 NM_001481.2(GAS8): c.608G> A (p.Arg203Gln) single nucleotide variant Uncertain significance rs747875715 GRCh38 Chromosome 16, 90036438: 90036438
49 GAS8 NM_001481.2(GAS8): c.841G> C (p.Asp281His) single nucleotide variant Likely benign rs139167960 GRCh37 Chromosome 16, 90103724: 90103724
50 GAS8 NM_001481.2(GAS8): c.841G> C (p.Asp281His) single nucleotide variant Likely benign rs139167960 GRCh38 Chromosome 16, 90037316: 90037316

Expression for Ciliary Dyskinesia, Primary, 33

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 33.

Pathways for Ciliary Dyskinesia, Primary, 33

GO Terms for Ciliary Dyskinesia, Primary, 33

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