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 73 29 6
Cild33 57 12 73
Ciliary Dyskinesia, Primary, 33, Without Situs Inversus 57 73
Primary Ciliary Dyskinesia 33 Without Situs Inversus 12
Primary Ciliary Dyskinesia 33 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
ciliary dyskinesia, primary, 33:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110619
OMIM® 57 616726
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 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) (Updated 05-Mar-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 33, also known as cild33, is related to primary ciliary dyskinesia. An important gene associated with Ciliary Dyskinesia, Primary, 33 is GAS8 (Growth Arrest Specific 8). 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 : 73 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

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, Primary, 42
Ciliary Dyskinesia, Primary, 43 Ciliary Dyskinesia, Primary, 44
Ciliary Dyskinesia, Primary, 45 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 33 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 9.5 GAS8-AS1 GAS8

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 33

Human phenotypes related to Ciliary Dyskinesia, Primary, 33:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 HP:0000403
2 conductive hearing impairment 31 HP:0000405
3 atelectasis 31 HP:0100750
4 cough 31 HP:0012735
5 recurrent pneumonia 31 HP:0006532
6 bronchiectasis 31 HP:0002110
7 ciliary dyskinesia 31 HP:0012265
8 chronic rhinitis 31 HP:0002257
9 recurrent bronchitis 31 HP:0002837

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

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. 6 57
26387594 2015
2
The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear. 57
19043402 2009

Variations for Ciliary Dyskinesia, Primary, 33

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

6 (show top 50) (show all 82)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GAS8 NM_001481.3(GAS8):c.927C>A (p.Cys309Ter) SNV Pathogenic 219122 rs748688175 16:90104172-90104172 16:90037764-90037764
2 GAS8 NM_001481.3(GAS8):c.1000C>T (p.Arg334Ter) SNV Pathogenic 219123 rs755553133 16:90104245-90104245 16:90037837-90037837
3 GAS8 NM_001481.3(GAS8):c.1069C>T (p.Gln357Ter) SNV Pathogenic 219124 rs566755911 16:90106765-90106765 16:90040357-90040357
4 GAS8 NM_001481.3(GAS8):c.718dup (p.Ile240fs) Duplication Pathogenic 955888 16:90102955-90102956 16:90036547-90036548
5 GAS8-AS1 NC_000016.10:g.(?_90022702)_(90040529_?)del Deletion Pathogenic 475553 16:90089110-90106937 16:90022702-90040529
6 GAS8 NM_001481.3(GAS8):c.865del (p.Glu289fs) Deletion Likely pathogenic 804479 rs1597643228 16:90103747-90103747 16:90037339-90037339
7 GAS8 NM_001481.3(GAS8):c.490C>T (p.Arg164Trp) SNV Uncertain significance 577760 rs151099141 16:90099327-90099327 16:90032919-90032919
8 GAS8 NM_001481.3(GAS8):c.937C>T (p.Arg313Cys) SNV Uncertain significance 959143 16:90104182-90104182 16:90037774-90037774
9 GAS8 NM_001481.3(GAS8):c.262G>A (p.Glu88Lys) SNV Uncertain significance 960491 16:90097878-90097878 16:90031470-90031470
10 GAS8 NM_001481.3(GAS8):c.1411G>A (p.Ala471Thr) SNV Uncertain significance 939938 16:90109727-90109727 16:90043319-90043319
11 GAS8 NM_001481.3(GAS8):c.222G>T (p.Lys74Asn) SNV Uncertain significance 941511 16:90097838-90097838 16:90031430-90031430
12 GAS8 NM_001481.3(GAS8):c.607C>T (p.Arg203Trp) SNV Uncertain significance 952372 16:90102845-90102845 16:90036437-90036437
13 GAS8 NM_001481.3(GAS8):c.76A>G (p.Met26Val) SNV Uncertain significance 952479 16:90094116-90094116 16:90027708-90027708
14 GAS8 NM_001481.3(GAS8):c.1400G>A (p.Gly467Asp) SNV Uncertain significance 955241 16:90109716-90109716 16:90043308-90043308
15 GAS8 NM_001481.3(GAS8):c.628G>A (p.Glu210Lys) SNV Uncertain significance 955482 16:90102866-90102866 16:90036458-90036458
16 GAS8 NC_000016.10:g.(?_90040280)_(90043365_?)del Deletion Uncertain significance 830568 16:90106688-90109773
17 GAS8 NC_000016.10:g.(?_90035613)_(90043365_?)dup Duplication Uncertain significance 831844 16:90102021-90109773
18 GAS8 NM_001481.3(GAS8):c.289G>A (p.Val97Met) SNV Uncertain significance 835829 16:90099126-90099126 16:90032718-90032718
19 GAS8 NM_001481.3(GAS8):c.466A>G (p.Ser156Gly) SNV Uncertain significance 838593 16:90099303-90099303 16:90032895-90032895
20 GAS8 NM_001481.3(GAS8):c.131G>A (p.Arg44His) SNV Uncertain significance 839815 16:90097747-90097747 16:90031339-90031339
21 GAS8 NM_001481.3(GAS8):c.1306C>T (p.Arg436Cys) SNV Uncertain significance 839874 16:90109622-90109622 16:90043214-90043214
22 GAS8 NM_001481.3(GAS8):c.1378G>C (p.Ala460Pro) SNV Uncertain significance 842274 16:90109694-90109694 16:90043286-90043286
23 GAS8 NM_001481.3(GAS8):c.838G>A (p.Ala280Thr) SNV Uncertain significance 847340 16:90103721-90103721 16:90037313-90037313
24 GAS8 NM_001481.3(GAS8):c.199C>T (p.Arg67Trp) SNV Uncertain significance 848017 16:90097815-90097815 16:90031407-90031407
25 GAS8 NM_001481.3(GAS8):c.909C>A (p.Asp303Glu) SNV Uncertain significance 848368 16:90103792-90103792 16:90037384-90037384
26 GAS8 NM_001481.3(GAS8):c.289G>T (p.Val97Leu) SNV Uncertain significance 849223 16:90099126-90099126 16:90032718-90032718
27 GAS8 NM_001481.3(GAS8):c.901G>A (p.Glu301Lys) SNV Uncertain significance 852861 16:90103784-90103784 16:90037376-90037376
28 GAS8 NM_001481.3(GAS8):c.789C>A (p.Asp263Glu) SNV Uncertain significance 854036 16:90103672-90103672 16:90037264-90037264
29 GAS8 NM_001481.3(GAS8):c.1061A>G (p.Gln354Arg) SNV Uncertain significance 857702 16:90106757-90106757 16:90040349-90040349
30 GAS8 NM_001481.3(GAS8):c.76A>C (p.Met26Leu) SNV Uncertain significance 860031 16:90094116-90094116 16:90027708-90027708
31 GAS8 NM_001481.3(GAS8):c.460C>G (p.Leu154Val) SNV Uncertain significance 860625 16:90099297-90099297 16:90032889-90032889
32 GAS8 NM_001481.3(GAS8):c.1159G>A (p.Glu387Lys) SNV Uncertain significance 861094 16:90106855-90106855 16:90040447-90040447
33 GAS8 NM_001481.3(GAS8):c.1221+4G>A SNV Uncertain significance 475559 rs201588451 16:90106921-90106921 16:90040513-90040513
34 GAS8 NM_001481.3(GAS8):c.1297G>A (p.Asp433Asn) SNV Uncertain significance 475561 rs150016330 16:90109613-90109613 16:90043205-90043205
35 GAS8 NM_001481.3(GAS8):c.1221+6C>T SNV Uncertain significance 542261 rs374119905 16:90106923-90106923 16:90040515-90040515
36 GAS8 NM_001481.3(GAS8):c.64G>A (p.Ala22Thr) SNV Uncertain significance 542262 rs762664716 16:90094104-90094104 16:90027696-90027696
37 GAS8 NM_001481.3(GAS8):c.242A>C (p.Asp81Ala) SNV Uncertain significance 542263 rs769384158 16:90097858-90097858 16:90031450-90031450
38 GAS8 NM_001481.3(GAS8):c.3+6C>T SNV Uncertain significance 542264 rs552480254 16:90089138-90089138 16:90022730-90022730
39 GAS8 NM_001481.3(GAS8):c.601G>A (p.Asp201Asn) SNV Uncertain significance 542265 rs1039044975 16:90102839-90102839 16:90036431-90036431
40 GAS8 NM_001481.3(GAS8):c.608G>A (p.Arg203Gln) SNV Uncertain significance 542266 rs747875715 16:90102846-90102846 16:90036438-90036438
41 GAS8 NM_001481.3(GAS8):c.1012-9T>C SNV Uncertain significance 542267 rs1555651546 16:90106699-90106699 16:90040291-90040291
42 GAS8 NM_001481.3(GAS8):c.1255G>A (p.Asp419Asn) SNV Uncertain significance 570987 rs146370084 16:90108911-90108911 16:90042503-90042503
43 GAS8 NM_001481.3(GAS8):c.244C>T (p.Arg82Trp) SNV Uncertain significance 571141 rs773018940 16:90097860-90097860 16:90031452-90031452
44 GAS8 NM_001481.3(GAS8):c.85G>A (p.Glu29Lys) SNV Uncertain significance 572231 rs560531650 16:90094125-90094125 16:90027717-90027717
45 GAS8 NM_001481.3(GAS8):c.873C>T (p.Ser291=) SNV Uncertain significance 573432 rs762702389 16:90103756-90103756 16:90037348-90037348
46 GAS8 NM_001481.3(GAS8):c.318A>G (p.Leu106=) SNV Uncertain significance 583383 rs770015007 16:90099155-90099155 16:90032747-90032747
47 GAS8 NC_000016.9:g.(?_90108858)_(90109773_?)dup Duplication Uncertain significance 584418 16:90108858-90109773 16:90042450-90043365
48 GAS8 NM_001481.3(GAS8):c.730A>G (p.Asn244Asp) SNV Uncertain significance 642378 rs745989300 16:90102968-90102968 16:90036560-90036560
49 GAS8 NM_001481.3(GAS8):c.206A>G (p.Gln69Arg) SNV Uncertain significance 645217 rs778306447 16:90097822-90097822 16:90031414-90031414
50 GAS8 NM_001481.3(GAS8):c.551A>C (p.Glu184Ala) SNV Uncertain significance 647067 rs201534876 16:90102789-90102789 16:90036381-90036381

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

73
# Symbol AA change Variation ID SNP ID
1 GAS8 p.Ala391Val VAR_080338 rs147993982

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

Sources for Ciliary Dyskinesia, Primary, 33

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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45 MESH via Orphanet
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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68 SNOMED-CT via HPO
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