CILD14
MCID: CLR091
MIFTS: 19

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 58 76 30 13 6 74
Cild14 58 12 76
Primary Ciliary Dyskinesia 14 with or Without Situs Inversus 12 76
Ciliary Dyskinesia, Primary, 14, with or Without Situs Inversus 58
Dyskinesia, Ciliary, Primary, Type 14 41
Primary Ciliary Dyskinesia 14 12
Immotile Cilia Syndrome 14 76
Ics14 76

Characteristics:

HPO:

33
ciliary dyskinesia, primary, 14:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 14

UniProtKB/Swiss-Prot : 76 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, is also known as cild14. An important gene associated with Ciliary Dyskinesia, Primary, 14 is CCDC39 (Coiled-Coil Domain Containing 39). Related phenotypes are situs inversus totalis and polysplenia

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 : 58 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

Human phenotypes related to Ciliary Dyskinesia, Primary, 14:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 33 very rare (1%) HP:0001696
2 polysplenia 33 very rare (1%) HP:0001748
3 recurrent respiratory infections 33 HP:0002205
4 otitis media 33 HP:0000388
5 infertility 33 HP:0000789
6 bronchiectasis 33 HP:0002110
7 chronic sinusitis 33 HP:0011109
8 ciliary dyskinesia 33 HP:0012265
9 abnormal ciliary motility 33 HP:0012262
10 absent inner dynein arms 33 HP:0012257
11 abnormal axonemal organization of respiratory motile cilia 33 HP:0012258

Clinical features from OMIM:

613807

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 30 CCDC39

Anatomical Context for Ciliary Dyskinesia, Primary, 14

Publications for Ciliary Dyskinesia, Primary, 14

Articles related to Ciliary Dyskinesia, Primary, 14:

# Title Authors Year
1
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. ( 21131972 )
2011

Variations for Ciliary Dyskinesia, Primary, 14

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

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC39 NM_181426.2(CCDC39): c.357+1G> C single nucleotide variant Pathogenic rs397515392 GRCh37 Chromosome 3, 180379648: 180379648
2 CCDC39 NM_181426.2(CCDC39): c.357+1G> C single nucleotide variant Pathogenic rs397515392 GRCh38 Chromosome 3, 180661860: 180661860
3 CCDC39 CCDC39, 3-BP DEL/1-BP INS, NT2357 indel Pathogenic
4 CCDC39 NM_181426.1(CCDC39): c.2190delA (p.Glu731Asnfs) deletion Pathogenic rs587778820 GRCh37 Chromosome 3, 180337122: 180337122
5 CCDC39 NM_181426.1(CCDC39): c.2190delA (p.Glu731Asnfs) deletion Pathogenic rs587778820 GRCh38 Chromosome 3, 180619334: 180619334
6 CCDC39; TTC14 NM_181426.2(CCDC39): c.2357_2359delGTAinsT (p.Ser786Ilefs) indel Pathogenic rs587778821 GRCh38 Chromosome 3, 180616873: 180616875
7 CCDC39; TTC14 NM_181426.2(CCDC39): c.2357_2359delGTAinsT (p.Ser786Ilefs) indel Pathogenic rs587778821 GRCh37 Chromosome 3, 180334661: 180334663
8 CCDC39 NM_181426.1(CCDC39): c.1072delA (p.Thr358Glnfs) deletion Pathogenic rs587778822 GRCh37 Chromosome 3, 180369284: 180369284
9 CCDC39 NM_181426.1(CCDC39): c.1072delA (p.Thr358Glnfs) deletion Pathogenic rs587778822 GRCh38 Chromosome 3, 180651496: 180651496
10 CCDC39 NM_181426.2(CCDC39): c.1359C> T (p.Ser453=) single nucleotide variant Benign rs6769457 GRCh37 Chromosome 3, 180365956: 180365956
11 CCDC39 NM_181426.2(CCDC39): c.1359C> T (p.Ser453=) single nucleotide variant Benign rs6769457 GRCh38 Chromosome 3, 180648168: 180648168
12 CCDC39 NM_181426.1(CCDC39): c.2397G> A (p.Val799=) single nucleotide variant Benign/Likely benign rs7612917 GRCh37 Chromosome 3, 180334623: 180334623
13 CCDC39 NM_181426.1(CCDC39): c.2397G> A (p.Val799=) single nucleotide variant Benign/Likely benign rs7612917 GRCh38 Chromosome 3, 180616835: 180616835
14 CCDC39 NM_181426.2(CCDC39): c.2057A> G (p.Asn686Ser) single nucleotide variant Uncertain significance rs201586263 GRCh37 Chromosome 3, 180337700: 180337700
15 CCDC39 NM_181426.2(CCDC39): c.2057A> G (p.Asn686Ser) single nucleotide variant Uncertain significance rs201586263 GRCh38 Chromosome 3, 180619912: 180619912
16 CCDC39 NM_181426.2(CCDC39): c.1781C> T (p.Thr594Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140505857 GRCh37 Chromosome 3, 180359874: 180359874
17 CCDC39 NM_181426.2(CCDC39): c.1781C> T (p.Thr594Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140505857 GRCh38 Chromosome 3, 180642086: 180642086
18 CCDC39 NM_181426.2(CCDC39): c.1885C> T (p.Arg629Cys) single nucleotide variant Uncertain significance rs199526690 GRCh37 Chromosome 3, 180349370: 180349370
19 CCDC39 NM_181426.2(CCDC39): c.1885C> T (p.Arg629Cys) single nucleotide variant Uncertain significance rs199526690 GRCh38 Chromosome 3, 180631582: 180631582

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

Sources for Ciliary Dyskinesia, Primary, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....