CILD9
MCID: CLR136
MIFTS: 21

Ciliary Dyskinesia, Primary, 9 (CILD9)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 9

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 9:

Name: Ciliary Dyskinesia, Primary, 9 57 75 29 6 73
Cild9 57 12 75
Ciliary Dyskinesia, Primary, 9, with or Without Situs Inversus 57 13
Primary Ciliary Dyskinesia 9 with or Without Situs Inversus 12 75
Dyskinesia, Ciliary, Primary, 9 40
Primary Ciliary Dyskinesia 9 12
Immotile Cilia Syndrome 9 75
Ics9 75

Characteristics:

HPO:

32
ciliary dyskinesia, primary, 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612444
Disease Ontology 12 DOID:0110622
ICD10 33 Q34.8
MedGen 42 C2676235
MeSH 44 D007619
UMLS 73 C2676235

Summaries for Ciliary Dyskinesia, Primary, 9

OMIM : 57 Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). (612444)

MalaCards based summary : Ciliary Dyskinesia, Primary, 9, is also known as cild9. An important gene associated with Ciliary Dyskinesia, Primary, 9 is DNAI2 (Dynein Axonemal Intermediate Chain 2). Related phenotypes are recurrent otitis media and situs inversus totalis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has material basis in homozygous mutation in the DNAI2 gene on chromosome 17q25.

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 9: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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.

Related Diseases for Ciliary Dyskinesia, Primary, 9

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 9

Clinical features from OMIM:

612444

Human phenotypes related to Ciliary Dyskinesia, Primary, 9:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 situs inversus totalis 32 HP:0001696
3 male infertility 32 HP:0003251
4 bronchiectasis 32 HP:0002110
5 chronic rhinitis 32 HP:0002257
6 ciliary dyskinesia 32 HP:0012265
7 recurrent sinusitis 32 HP:0011108

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 9

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 9

Genetic Tests for Ciliary Dyskinesia, Primary, 9

Genetic tests related to Ciliary Dyskinesia, Primary, 9:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 9 29 DNAI2

Anatomical Context for Ciliary Dyskinesia, Primary, 9

Publications for Ciliary Dyskinesia, Primary, 9

Variations for Ciliary Dyskinesia, Primary, 9

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 9:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAI2 DNAI2, IVS11DS, G-A, +1 single nucleotide variant Pathogenic
2 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh37 Chromosome 17, 72283113: 72283113
3 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh38 Chromosome 17, 74286974: 74286974
4 DNAI2 NM_023036.4(DNAI2): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs137852998 GRCh37 Chromosome 17, 72295919: 72295919
5 DNAI2 NM_023036.4(DNAI2): c.787C> T (p.Arg263Ter) single nucleotide variant Pathogenic rs137852998 GRCh38 Chromosome 17, 74299780: 74299780
6 DNAI2 DNAI2, TRP453TER single nucleotide variant Pathogenic
7 DNAI2 NM_023036.4(DNAI2): c.1347+7C> T single nucleotide variant Benign rs2290955 GRCh37 Chromosome 17, 72305534: 72305534
8 DNAI2 NM_023036.4(DNAI2): c.1347+7C> T single nucleotide variant Benign rs2290955 GRCh38 Chromosome 17, 74309395: 74309395
9 DNAI2 NM_023036.4(DNAI2): c.1672G> A (p.Ala558Thr) single nucleotide variant Benign rs1979370 GRCh37 Chromosome 17, 72308319: 72308319
10 DNAI2 NM_023036.4(DNAI2): c.1672G> A (p.Ala558Thr) single nucleotide variant Benign rs1979370 GRCh38 Chromosome 17, 74312180: 74312180
11 DNAI2 NM_023036.4(DNAI2): c.834C> T (p.Thr278=) single nucleotide variant Benign/Likely benign rs34159194 GRCh37 Chromosome 17, 72295966: 72295966
12 DNAI2 NM_023036.4(DNAI2): c.834C> T (p.Thr278=) single nucleotide variant Benign/Likely benign rs34159194 GRCh38 Chromosome 17, 74299827: 74299827
13 DNAI2 NM_023036.4(DNAI2): c.1062A> G (p.Glu354=) single nucleotide variant Benign rs8073660 GRCh37 Chromosome 17, 72301432: 72301432
14 DNAI2 NM_023036.4(DNAI2): c.1062A> G (p.Glu354=) single nucleotide variant Benign rs8073660 GRCh38 Chromosome 17, 74305293: 74305293
15 DNAI2 NM_023036.5(DNAI2): c.1644C> A (p.Ala548=) single nucleotide variant Benign/Likely benign rs9908476 GRCh37 Chromosome 17, 72308291: 72308291
16 DNAI2 NM_023036.5(DNAI2): c.1644C> A (p.Ala548=) single nucleotide variant Benign/Likely benign rs9908476 GRCh38 Chromosome 17, 74312152: 74312152
17 DNAI2 NM_023036.5(DNAI2): c.234G> A (p.Glu78=) single nucleotide variant Benign/Likely benign rs35985071 GRCh37 Chromosome 17, 72281229: 72281229
18 DNAI2 NM_023036.5(DNAI2): c.234G> A (p.Glu78=) single nucleotide variant Benign/Likely benign rs35985071 GRCh38 Chromosome 17, 74285090: 74285090
19 DNAI2 NM_023036.4(DNAI2): c.571C> T (p.Pro191Ser) single nucleotide variant Uncertain significance rs201457010 GRCh38 Chromosome 17, 74289697: 74289697
20 DNAI2 NM_023036.4(DNAI2): c.571C> T (p.Pro191Ser) single nucleotide variant Uncertain significance rs201457010 GRCh37 Chromosome 17, 72285836: 72285836
21 DNAI2 NM_023036.5(DNAI2): c.1304G> A (p.Trp435Ter) single nucleotide variant Pathogenic rs752924362 GRCh38 Chromosome 17, 74309345: 74309345
22 DNAI2 NM_023036.5(DNAI2): c.1304G> A (p.Trp435Ter) single nucleotide variant Pathogenic rs752924362 GRCh37 Chromosome 17, 72305484: 72305484
23 DNAI2 NM_023036.4(DNAI2): c.1600G> A (p.Asp534Asn) single nucleotide variant Uncertain significance rs538543314 GRCh38 Chromosome 17, 74312108: 74312108
24 DNAI2 NM_023036.4(DNAI2): c.1600G> A (p.Asp534Asn) single nucleotide variant Uncertain significance rs538543314 GRCh37 Chromosome 17, 72308247: 72308247
25 DNAI2 NM_023036.4(DNAI2): c.933G> A (p.Lys311=) single nucleotide variant Conflicting interpretations of pathogenicity rs570168701 GRCh37 Chromosome 17, 72297253: 72297253
26 DNAI2 NM_023036.4(DNAI2): c.933G> A (p.Lys311=) single nucleotide variant Conflicting interpretations of pathogenicity rs570168701 GRCh38 Chromosome 17, 74301114: 74301114
27 DNAI2 NM_023036.4(DNAI2): c.1715C> T (p.Pro572Leu) single nucleotide variant Benign/Likely benign rs151241589 GRCh37 Chromosome 17, 72308362: 72308362
28 DNAI2 NM_023036.4(DNAI2): c.1715C> T (p.Pro572Leu) single nucleotide variant Benign/Likely benign rs151241589 GRCh38 Chromosome 17, 74312223: 74312223
29 DNAI2 NM_023036.4(DNAI2): c.1697delA (p.Asp566Alafs) deletion Pathogenic rs764971993 GRCh37 Chromosome 17, 72308344: 72308344
30 DNAI2 NM_023036.4(DNAI2): c.1697delA (p.Asp566Alafs) deletion Pathogenic rs764971993 GRCh38 Chromosome 17, 74312205: 74312205
31 DNAI2 NM_023036.5(DNAI2): c.1723-1G> T single nucleotide variant Likely pathogenic rs201909971 GRCh37 Chromosome 17, 72310259: 72310259
32 DNAI2 NM_023036.5(DNAI2): c.1723-1G> T single nucleotide variant Likely pathogenic rs201909971 GRCh38 Chromosome 17, 74314120: 74314120

Expression for Ciliary Dyskinesia, Primary, 9

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 9.

Pathways for Ciliary Dyskinesia, Primary, 9

GO Terms for Ciliary Dyskinesia, Primary, 9

Sources for Ciliary Dyskinesia, Primary, 9

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