CILD14
MCID: CLR091
MIFTS: 27

Ciliary Dyskinesia, Primary, 14 (CILD14)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 14

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 14:

Name: Ciliary Dyskinesia, Primary, 14 57 75 29 13 6 73
Cild14 57 12 75
Primary Ciliary Dyskinesia 14 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 14, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, Type 14 40
Primary Ciliary Dyskinesia 14 12
Immotile Cilia Syndrome 14 75
Ics14 75

Characteristics:

HPO:

32
ciliary dyskinesia, primary, 14:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 14

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 14: 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.

MalaCards based summary : Ciliary Dyskinesia, Primary, 14, also known as cild14, is related to kartagener syndrome. An important gene associated with Ciliary Dyskinesia, Primary, 14 is CCDC39 (Coiled-Coil Domain Containing 39). Related phenotypes are recurrent respiratory infections and otitis media

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has material basis in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.

OMIM : 57 Primary ciliary dyskinesia-14 is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (613807)

Related Diseases for Ciliary Dyskinesia, Primary, 14

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 14

Clinical features from OMIM:

613807

Human phenotypes related to Ciliary Dyskinesia, Primary, 14:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 otitis media 32 HP:0000388
3 infertility 32 HP:0000789
4 situs inversus totalis 32 very rare (1%) HP:0001696
5 bronchiectasis 32 HP:0002110
6 polysplenia 32 very rare (1%) HP:0001748
7 chronic sinusitis 32 HP:0011109
8 ciliary dyskinesia 32 HP:0012265
9 abnormal ciliary motility 32 HP:0012262
10 absent inner dynein arms 32 HP:0012257
11 abnormal axonemal organization of respiratory motile cilia 32 HP:0012258

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 14

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 14

Genetic Tests for Ciliary Dyskinesia, Primary, 14

Genetic tests related to Ciliary Dyskinesia, Primary, 14:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 14 29 CCDC39

Anatomical Context for Ciliary Dyskinesia, Primary, 14

Publications for Ciliary Dyskinesia, Primary, 14

Variations for Ciliary Dyskinesia, Primary, 14

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 14:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC39 CCDC39, 1-BP DEL, 2190A deletion Pathogenic
2 CCDC39 CCDC39, 1-BP DEL, 1072A deletion Pathogenic
3 CCDC39 NM_181426.1(CCDC39): c.357+1G> C single nucleotide variant Pathogenic rs397515392 GRCh37 Chromosome 3, 180379648: 180379648
4 CCDC39 NM_181426.1(CCDC39): c.357+1G> C single nucleotide variant Pathogenic rs397515392 GRCh38 Chromosome 3, 180661860: 180661860
5 CCDC39 CCDC39, 3-BP DEL/1-BP INS, NT2357 indel Pathogenic
6 CCDC39 NM_181426.1(CCDC39): c.2190delA (p.Glu731Asnfs) deletion Pathogenic rs587778820 GRCh37 Chromosome 3, 180337122: 180337122
7 CCDC39 NM_181426.1(CCDC39): c.2190delA (p.Glu731Asnfs) deletion Pathogenic rs587778820 GRCh38 Chromosome 3, 180619334: 180619334
8 CCDC39; TTC14 NM_181426.1(CCDC39): c.2357_2359delGTAinsT (p.Ser786Ilefs) indel Pathogenic rs587778821 GRCh37 Chromosome 3, 180334661: 180334663
9 CCDC39; TTC14 NM_181426.1(CCDC39): c.2357_2359delGTAinsT (p.Ser786Ilefs) indel Pathogenic rs587778821 GRCh38 Chromosome 3, 180616873: 180616875
10 CCDC39 NM_181426.1(CCDC39): c.1072delA (p.Thr358Glnfs) deletion Pathogenic rs587778822 GRCh37 Chromosome 3, 180369284: 180369284
11 CCDC39 NM_181426.1(CCDC39): c.1072delA (p.Thr358Glnfs) deletion Pathogenic rs587778822 GRCh38 Chromosome 3, 180651496: 180651496
12 Pathogenic NP_000775.1: p.Trp133* undetermined variant 0 rsRCV000056246 65999
13 Pathogenic LRG_766p1: p.V4849R undetermined variant 0 rsRCV000056247 66000
14 CCDC39 NM_181426.1(CCDC39): c.1359C> T (p.Ser453=) single nucleotide variant Benign rs6769457 GRCh37 Chromosome 3, 180365956: 180365956
15 CCDC39 NM_181426.1(CCDC39): c.1359C> T (p.Ser453=) single nucleotide variant Benign rs6769457 GRCh38 Chromosome 3, 180648168: 180648168
16 CCDC39 NM_181426.1(CCDC39): c.2397G> A (p.Val799=) single nucleotide variant Benign/Likely benign rs7612917 GRCh37 Chromosome 3, 180334623: 180334623
17 CCDC39 NM_181426.1(CCDC39): c.2397G> A (p.Val799=) single nucleotide variant Benign/Likely benign rs7612917 GRCh38 Chromosome 3, 180616835: 180616835
18 CCDC39 NM_181426.2(CCDC39): c.1781C> T (p.Thr594Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140505857 GRCh37 Chromosome 3, 180359874: 180359874
19 CCDC39 NM_181426.2(CCDC39): c.1781C> T (p.Thr594Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140505857 GRCh38 Chromosome 3, 180642086: 180642086
20 CCDC39 NM_181426.1(CCDC39): c.2226C> A (p.Tyr742Ter) single nucleotide variant Pathogenic rs772219642 GRCh38 Chromosome 3, 180619298: 180619298
21 CCDC39 NM_181426.1(CCDC39): c.2226C> A (p.Tyr742Ter) single nucleotide variant Pathogenic rs772219642 GRCh37 Chromosome 3, 180337086: 180337086

Expression for Ciliary Dyskinesia, Primary, 14

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 14.

Pathways for Ciliary Dyskinesia, Primary, 14

GO Terms for Ciliary Dyskinesia, Primary, 14

Cellular components related to Ciliary Dyskinesia, Primary, 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 8.96 CCDC39 ENSG00000284862
2 axoneme GO:0005930 8.62 CCDC39 ENSG00000284862

Biological processes related to Ciliary Dyskinesia, Primary, 14 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.51 CCDC39 ENSG00000284862
2 flagellated sperm motility GO:0030317 9.49 CCDC39 ENSG00000284862
3 cilium movement GO:0003341 9.48 CCDC39 ENSG00000284862
4 motile cilium assembly GO:0044458 9.46 CCDC39 ENSG00000284862
5 cilium-dependent cell motility GO:0060285 9.43 CCDC39 ENSG00000284862
6 inner dynein arm assembly GO:0036159 9.4 CCDC39 ENSG00000284862
7 axonemal dynein complex assembly GO:0070286 9.37 CCDC39 ENSG00000284862
8 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.32 CCDC39 ENSG00000284862
9 determination of digestive tract left/right asymmetry GO:0071907 9.26 CCDC39 ENSG00000284862
10 determination of liver left/right asymmetry GO:0071910 9.16 CCDC39 ENSG00000284862
11 determination of pancreatic left/right asymmetry GO:0035469 8.96 CCDC39 ENSG00000284862
12 regulation of cilium beat frequency GO:0003356 8.62 CCDC39 ENSG00000284862

Sources for Ciliary Dyskinesia, Primary, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....