CILD33
MCID: CLR125
MIFTS: 26

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 74 29 6
Cild33 57 12 74
Ciliary Dyskinesia, Primary, 33, Without Situs Inversus 57 74
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:



External Ids:

Disease Ontology 12 DOID:0110619
MeSH 44 D007619
ICD10 33 Q34.8

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 cough and recurrent otitis media

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 : 74 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

Human phenotypes related to Ciliary Dyskinesia, Primary, 33:

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

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

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

Articles related to Ciliary Dyskinesia, Primary, 33:

# Title Authors PMID Year
1
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. 8 71
26387594 2015
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
The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear. 8
19043402 2009
6
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 33

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

6 (show all 47)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GAS8 NC_000016.9: g.(?_90089110)_(90106937_?)del deletion Pathogenic 16:90089110-90106937 16:90022702-90040529
2 GAS8 NM_001286209.1(GAS8): c.852C> A (p.Cys284Ter) single nucleotide variant Pathogenic rs748688175 16:90104172-90104172 16:90037764-90037764
3 GAS8 NM_001286209.1(GAS8): c.925C> T (p.Arg309Ter) single nucleotide variant Pathogenic rs755553133 16:90104245-90104245 16:90037837-90037837
4 GAS8 NM_001286209.1(GAS8): c.994C> T (p.Gln332Ter) single nucleotide variant Pathogenic rs566755911 16:90106765-90106765 16:90040357-90040357
5 GAS8 NM_001286209.1(GAS8): c.415C> T (p.Arg139Trp) single nucleotide variant Uncertain significance 16:90099327-90099327 16:90032919-90032919
6 GAS8 NM_001286209.1(GAS8): c.798C> T (p.Ser266=) single nucleotide variant Uncertain significance 16:90103756-90103756 16:90037348-90037348
7 GAS8 NC_000016.9: g.(?_90108858)_(90109773_?)dup duplication Uncertain significance 16:90108858-90109773 16:90042450-90043365
8 GAS8 NM_001286209.1(GAS8): c.10G> A (p.Glu4Lys) single nucleotide variant Uncertain significance 16:90094125-90094125 16:90027717-90027717
9 GAS8 NM_001286209.1(GAS8): c.169C> T (p.Arg57Trp) single nucleotide variant Uncertain significance 16:90097860-90097860 16:90031452-90031452
10 GAS8 NM_001286209.1(GAS8): c.243A> G (p.Leu81=) single nucleotide variant Uncertain significance 16:90099155-90099155 16:90032747-90032747
11 GAS8 NM_001286209.1(GAS8): c.1180G> A (p.Asp394Asn) single nucleotide variant Uncertain significance 16:90108911-90108911 16:90042503-90042503
12 GAS8 NM_001286209.1(GAS8): c.35G> A (p.Arg12His) single nucleotide variant Uncertain significance 16:90097726-90097726 16:90031318-90031318
13 GAS8 NM_001286209.1(GAS8): c.131A> G (p.Gln44Arg) single nucleotide variant Uncertain significance 16:90097822-90097822 16:90031414-90031414
14 GAS8 NM_001286209.1(GAS8): c.476A> C (p.Glu159Ala) single nucleotide variant Uncertain significance 16:90102789-90102789 16:90036381-90036381
15 GAS8 NM_001286209.1(GAS8): c.655A> G (p.Asn219Asp) single nucleotide variant Uncertain significance 16:90102968-90102968 16:90036560-90036560
16 GAS8 NM_001286209.1(GAS8): c.964C> T (p.Arg322Trp) single nucleotide variant Uncertain significance 16:90106735-90106735 16:90040327-90040327
17 GAS8 NM_001286209.1(GAS8): c.1030C> T (p.Arg344Cys) single nucleotide variant Uncertain significance 16:90106801-90106801 16:90040393-90040393
18 GAS8 NM_001286209.1(GAS8): c.1146+4G> A single nucleotide variant Uncertain significance rs201588451 16:90106921-90106921 16:90040513-90040513
19 GAS8 NM_001286209.1(GAS8): c.757C> T (p.Arg253Cys) single nucleotide variant Uncertain significance rs201993896 16:90103715-90103715 16:90037307-90037307
20 GAS8 NM_001286209.1(GAS8): c.-45A> G single nucleotide variant Uncertain significance rs146066553 16:90094071-90094071 16:90027663-90027663
21 GAS8 NM_001286209.1(GAS8): c.1222G> A (p.Asp408Asn) single nucleotide variant Uncertain significance rs150016330 16:90109613-90109613 16:90043205-90043205
22 GAS8 NM_001286209.1(GAS8): c.937-9T> C single nucleotide variant Uncertain significance rs1555651546 16:90106699-90106699 16:90040291-90040291
23 GAS8 NM_001286209.1(GAS8): c.-12G> A single nucleotide variant Uncertain significance rs762664716 16:90094104-90094104 16:90027696-90027696
24 GAS8 NM_001286209.1(GAS8): c.526G> A (p.Asp176Asn) single nucleotide variant Uncertain significance rs1039044975 16:90102839-90102839 16:90036431-90036431
25 GAS8 NM_001286209.1(GAS8): c.533G> A (p.Arg178Gln) single nucleotide variant Uncertain significance rs747875715 16:90102846-90102846 16:90036438-90036438
26 GAS8 NM_001286209.1(GAS8): c.-73+2962C> T single nucleotide variant Uncertain significance rs552480254 16:90089138-90089138 16:90022730-90022730
27 GAS8 NM_001286209.1(GAS8): c.167A> C (p.Asp56Ala) single nucleotide variant Uncertain significance rs769384158 16:90097858-90097858 16:90031450-90031450
28 GAS8 NM_001286209.1(GAS8): c.1146+6C> T single nucleotide variant Uncertain significance rs374119905 16:90106923-90106923 16:90040515-90040515
29 GAS8 NM_001286209.1(GAS8): c.998A> G (p.Gln333Arg) single nucleotide variant Likely benign rs145962792 16:90106769-90106769 16:90040361-90040361
30 GAS8 NM_001286209.1(GAS8): c.766G> C (p.Asp256His) single nucleotide variant Likely benign rs139167960 16:90103724-90103724 16:90037316-90037316
31 GAS8 NM_001286209.1(GAS8): c.202G> A (p.Val68Met) single nucleotide variant Likely benign rs143559732 16:90097893-90097893 16:90031485-90031485
32 GAS8 NM_001286209.1(GAS8): c.241C> G (p.Leu81Val) single nucleotide variant Likely benign rs140344685 16:90099153-90099153 16:90032745-90032745
33 GAS8 NM_001286209.1(GAS8): c.579G> A (p.Gln193=) single nucleotide variant Likely benign rs149327547 16:90102892-90102892 16:90036484-90036484
34 GAS8 NM_001286209.1(GAS8): c.1043C> T (p.Ala348Val) single nucleotide variant Likely benign rs185608121 16:90106814-90106814 16:90040406-90040406
35 GAS8 NM_001286209.1(GAS8): c.1135C> T (p.Arg379Cys) single nucleotide variant Likely benign rs143772256 16:90106906-90106906 16:90040498-90040498
36 GAS8 NM_001286209.1(GAS8): c.1161G> A (p.Ser387=) single nucleotide variant Likely benign rs377091915 16:90108892-90108892 16:90042484-90042484
37 GAS8 NM_001286209.1(GAS8): c.936+7G> C single nucleotide variant Likely benign rs377407115 16:90104263-90104263 16:90037855-90037855
38 GAS8 NM_001286209.1(GAS8): c.733G> C (p.Ala245Pro) single nucleotide variant Likely benign rs141125763 16:90103691-90103691 16:90037283-90037283
39 GAS8 NM_001286209.1(GAS8): c.758G> A (p.Arg253His) single nucleotide variant Benign rs117053233 16:90103716-90103716 16:90037308-90037308
40 GAS8 NM_001286209.1(GAS8): c.170G> A (p.Arg57Gln) single nucleotide variant Benign rs884928 16:90097861-90097861 16:90031453-90031453
41 GAS8 NM_001286209.1(GAS8): c.520G> A (p.Glu174Lys) single nucleotide variant Benign rs868044 16:90102833-90102833 16:90036425-90036425
42 GAS8 NM_001286209.1(GAS8): c.1031G> A (p.Arg344His) single nucleotide variant Benign rs61734730 16:90106802-90106802 16:90040394-90040394
43 GAS8 NM_001286209.1(GAS8): c.1113T> G (p.Pro371=) single nucleotide variant Benign rs61734729 16:90106884-90106884 16:90040476-90040476
44 GAS8 NM_001286209.1(GAS8): c.332G> C (p.Ser111Thr) single nucleotide variant Benign rs148760410 16:90099244-90099244 16:90032836-90032836
45 GAS8 NM_001286209.1(GAS8): c.-38A> G single nucleotide variant Benign rs61734732 16:90094078-90094078 16:90027670-90027670
46 GAS8 NM_001286209.1(GAS8): c.475+10C> T single nucleotide variant Benign rs77534905 16:90102105-90102105 16:90035697-90035697
47 GAS8 NM_001286209.1(GAS8): c.401T> A (p.Val134Glu) single nucleotide variant Benign rs116113385 16:90099313-90099313 16:90032905-90032905

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

74
# Symbol AA change Variation ID SNP ID
1 GAS8 p.Ala391Val VAR_080338 rs147993982

Expression for Ciliary Dyskinesia, Primary, 33

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Pathways for Ciliary Dyskinesia, Primary, 33

GO Terms for Ciliary Dyskinesia, Primary, 33

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