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 56 73 29 6
Cild33 56 12 73
Ciliary Dyskinesia, Primary, 33, Without Situs Inversus 56 73
Primary Ciliary Dyskinesia 33 Without Situs Inversus 12
Primary Ciliary Dyskinesia 33 12

Characteristics:

OMIM:

56
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 56 616726
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8

Summaries for Ciliary Dyskinesia, Primary, 33

OMIM : 56 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 : 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

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 cough 31 HP:0012735
2 recurrent otitis media 31 HP:0000403
3 conductive hearing impairment 31 HP:0000405
4 atelectasis 31 HP:0100750
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:

56
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:

40
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. 56 6
26387594 2015
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
5
The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear. 56
19043402 2009
6
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 33

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

6 (show top 50) (show all 73) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GAS8 NC_000016.10:g.(?_90022702)_(90040529_?)deldeletion Pathogenic 475553 16:90089110-90106937 16:90022702-90040529
2 GAS8 NM_001481.3(GAS8):c.927C>A (p.Cys309Ter)SNV Pathogenic 219122 rs748688175 16:90104172-90104172 16:90037764-90037764
3 GAS8 NM_001481.3(GAS8):c.1000C>T (p.Arg334Ter)SNV Pathogenic 219123 rs755553133 16:90104245-90104245 16:90037837-90037837
4 GAS8 NM_001481.3(GAS8):c.1069C>T (p.Gln357Ter)SNV Pathogenic 219124 rs566755911 16:90106765-90106765 16:90040357-90040357
5 GAS8 NM_001481.3(GAS8):c.865del (p.Glu289fs)deletion Likely pathogenic 804479 16:90103747-90103747 16:90037339-90037339
6 GAS8 NM_001481.3(GAS8):c.808G>C (p.Ala270Pro)SNV Conflicting interpretations of pathogenicity 475568 rs141125763 16:90103691-90103691 16:90037283-90037283
7 GAS8 NM_001481.3(GAS8):c.1221+4G>ASNV Uncertain significance 475559 rs201588451 16:90106921-90106921 16:90040513-90040513
8 GAS8 NM_001481.3(GAS8):c.31A>G (p.Lys11Glu)SNV Uncertain significance 475563 rs146066553 16:90094071-90094071 16:90027663-90027663
9 GAS8 NM_001481.3(GAS8):c.1297G>A (p.Asp433Asn)SNV Uncertain significance 475561 rs150016330 16:90109613-90109613 16:90043205-90043205
10 GAS8 NM_001481.3(GAS8):c.832C>T (p.Arg278Cys)SNV Uncertain significance 475569 rs201993896 16:90103715-90103715 16:90037307-90037307
11 GAS8 NM_001481.3(GAS8):c.1221+6C>TSNV Uncertain significance 542261 rs374119905 16:90106923-90106923 16:90040515-90040515
12 GAS8 NM_001481.3(GAS8):c.490C>T (p.Arg164Trp)SNV Uncertain significance 577760 rs151099141 16:90099327-90099327 16:90032919-90032919
13 GAS8 NM_001481.3(GAS8):c.873C>T (p.Ser291=)SNV Uncertain significance 573432 rs762702389 16:90103756-90103756 16:90037348-90037348
14 GAS8 NC_000016.9:g.(?_90108858)_(90109773_?)dupduplication Uncertain significance 584418 16:90108858-90109773 16:90042450-90043365
15 GAS8 NM_001481.3(GAS8):c.85G>A (p.Glu29Lys)SNV Uncertain significance 572231 rs560531650 16:90094125-90094125 16:90027717-90027717
16 GAS8 NM_001481.3(GAS8):c.244C>T (p.Arg82Trp)SNV Uncertain significance 571141 rs773018940 16:90097860-90097860 16:90031452-90031452
17 GAS8 NM_001481.3(GAS8):c.318A>G (p.Leu106=)SNV Uncertain significance 583383 rs770015007 16:90099155-90099155 16:90032747-90032747
18 GAS8 NM_001481.3(GAS8):c.1255G>A (p.Asp419Asn)SNV Uncertain significance 570987 rs146370084 16:90108911-90108911 16:90042503-90042503
19 GAS8 NM_001481.3(GAS8):c.110G>A (p.Arg37His)SNV Uncertain significance 655260 16:90097726-90097726 16:90031318-90031318
20 GAS8 NM_001481.3(GAS8):c.206A>G (p.Gln69Arg)SNV Uncertain significance 645217 16:90097822-90097822 16:90031414-90031414
21 GAS8 NM_001481.3(GAS8):c.551A>C (p.Glu184Ala)SNV Uncertain significance 647067 16:90102789-90102789 16:90036381-90036381
22 GAS8 NM_001481.3(GAS8):c.730A>G (p.Asn244Asp)SNV Uncertain significance 642378 16:90102968-90102968 16:90036560-90036560
23 GAS8 NM_001481.3(GAS8):c.1039C>T (p.Arg347Trp)SNV Uncertain significance 649697 16:90106735-90106735 16:90040327-90040327
24 GAS8 NM_001481.3(GAS8):c.1105C>T (p.Arg369Cys)SNV Uncertain significance 650359 16:90106801-90106801 16:90040393-90040393
25 GAS8 NC_000016.10:g.(?_90035613)_(90043365_?)dupduplication Uncertain significance 831844 16:90102021-90109773
26 GAS8 NC_000016.10:g.(?_90040280)_(90043365_?)deldeletion Uncertain significance 830568 16:90106688-90109773
27 GAS8 NM_001481.3(GAS8):c.76A>C (p.Met26Leu)SNV Uncertain significance 860031 16:90094116-90094116 16:90027708-90027708
28 GAS8 NM_001481.3(GAS8):c.131G>A (p.Arg44His)SNV Uncertain significance 839815 16:90097747-90097747 16:90031339-90031339
29 GAS8 NM_001481.3(GAS8):c.199C>T (p.Arg67Trp)SNV Uncertain significance 848017 16:90097815-90097815 16:90031407-90031407
30 GAS8 NM_001481.3(GAS8):c.289G>A (p.Val97Met)SNV Uncertain significance 835829 16:90099126-90099126 16:90032718-90032718
31 GAS8 NM_001481.3(GAS8):c.289G>T (p.Val97Leu)SNV Uncertain significance 849223 16:90099126-90099126 16:90032718-90032718
32 GAS8 NM_001481.3(GAS8):c.460C>G (p.Leu154Val)SNV Uncertain significance 860625 16:90099297-90099297 16:90032889-90032889
33 GAS8 NM_001481.3(GAS8):c.466A>G (p.Ser156Gly)SNV Uncertain significance 838593 16:90099303-90099303 16:90032895-90032895
34 GAS8 NM_001481.3(GAS8):c.789C>A (p.Asp263Glu)SNV Uncertain significance 854036 16:90103672-90103672 16:90037264-90037264
35 GAS8 NM_001481.3(GAS8):c.838G>A (p.Ala280Thr)SNV Uncertain significance 847340 16:90103721-90103721 16:90037313-90037313
36 GAS8 NM_001481.3(GAS8):c.901G>A (p.Glu301Lys)SNV Uncertain significance 852861 16:90103784-90103784 16:90037376-90037376
37 GAS8 NM_001481.3(GAS8):c.909C>A (p.Asp303Glu)SNV Uncertain significance 848368 16:90103792-90103792 16:90037384-90037384
38 GAS8 NM_001481.3(GAS8):c.1061A>G (p.Gln354Arg)SNV Uncertain significance 857702 16:90106757-90106757 16:90040349-90040349
39 GAS8 NM_001481.3(GAS8):c.1159G>A (p.Glu387Lys)SNV Uncertain significance 861094 16:90106855-90106855 16:90040447-90040447
40 GAS8 NM_001481.3(GAS8):c.1306C>T (p.Arg436Cys)SNV Uncertain significance 839874 16:90109622-90109622 16:90043214-90043214
41 GAS8 NM_001481.3(GAS8):c.1378G>C (p.Ala460Pro)SNV Uncertain significance 842274 16:90109694-90109694 16:90043286-90043286
42 GAS8 NM_001481.3(GAS8):c.601G>A (p.Asp201Asn)SNV Uncertain significance 542265 rs1039044975 16:90102839-90102839 16:90036431-90036431
43 GAS8 NM_001481.3(GAS8):c.608G>A (p.Arg203Gln)SNV Uncertain significance 542266 rs747875715 16:90102846-90102846 16:90036438-90036438
44 GAS8 NM_001481.3(GAS8):c.1012-9T>CSNV Uncertain significance 542267 rs1555651546 16:90106699-90106699 16:90040291-90040291
45 GAS8 NM_001481.3(GAS8):c.64G>A (p.Ala22Thr)SNV Uncertain significance 542262 rs762664716 16:90094104-90094104 16:90027696-90027696
46 GAS8 NM_001481.3(GAS8):c.3+6C>TSNV Uncertain significance 542264 rs552480254 16:90089138-90089138 16:90022730-90022730
47 GAS8 NM_001481.3(GAS8):c.242A>C (p.Asp81Ala)SNV Uncertain significance 542263 rs769384158 16:90097858-90097858 16:90031450-90031450
48 GAS8 NM_001481.3(GAS8):c.1073A>G (p.Gln358Arg)SNV Likely benign 542269 rs145962792 16:90106769-90106769 16:90040361-90040361
49 GAS8 NM_001481.3(GAS8):c.261C>T (p.Ala87=)SNV Likely benign 766929 16:90097877-90097877 16:90031469-90031469
50 GAS8 NM_001481.3(GAS8):c.1125C>T (p.Ser375=)SNV Likely benign 766988 16:90106821-90106821 16:90040413-90040413

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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....