CILD14
MCID: CLR091
MIFTS: 28

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 72 29 13 6 70
Cild14 57 12 72
Primary Ciliary Dyskinesia 14 with or Without Situs Inversus 12 72
Ciliary Dyskinesia, Primary, 14, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, Type 14 39
Primary Ciliary Dyskinesia 14 12
Immotile Cilia Syndrome 14 72
Ics14 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

31
ciliary dyskinesia, primary, 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110598
OMIM® 57 613807
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C3151136
UMLS 70 C3151136

Summaries for Ciliary Dyskinesia, Primary, 14

UniProtKB/Swiss-Prot : 72 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 ciliary dyskinesia, primary, 1 and primary ciliary dyskinesia. 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® : 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) (Updated 20-May-2021)

Related Diseases for Ciliary Dyskinesia, Primary, 14

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, 14 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1 9.6 TTC14 CCDC39
2 primary ciliary dyskinesia 9.5 TTC14 CCDC39

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 14

Human phenotypes related to Ciliary Dyskinesia, Primary, 14:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 very rare (1%) HP:0001696
2 polysplenia 31 very rare (1%) HP:0001748
3 recurrent respiratory infections 31 HP:0002205
4 otitis media 31 HP:0000388
5 infertility 31 HP:0000789
6 bronchiectasis 31 HP:0002110
7 ciliary dyskinesia 31 HP:0012265
8 chronic sinusitis 31 HP:0011109
9 abnormal ciliary motility 31 HP:0012262
10 absent inner dynein arms 31 HP:0012257
11 abnormal axonemal organization of respiratory motile cilia 31 HP:0012258

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
bronchiectasis

Head And Neck Head:
chronic sinusitis

Cardiovascular Heart:
dextrocardia (in some patients)

Respiratory:
recurrent respiratory infections due to defective ciliary clearance

Laboratory Abnormalities:
complete or partial loss of inner dynein arms of cilia
normal outer dynein arms
misarrangement of the microtubular doublets
defect in cilia motility

Head And Neck Nose:
chronic rhinitis

Genitourinary:
infertility (in some patients)

Head And Neck Ears:
chronic otitis

Abdomen:
situs inversus (in some patient)

Clinical features from OMIM®:

613807 (Updated 20-May-2021)

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

Articles related to Ciliary Dyskinesia, Primary, 14:

# Title Authors PMID Year
1
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 57 6
23255504 2013
2
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 57 6
21131972 2011
3
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. 57
28552195 2017
4
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 6
24498942 2014
5
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 6
23891469 2013
6
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 57
21131974 2011

Variations for Ciliary Dyskinesia, Primary, 14

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

6 (show top 50) (show all 118)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC39 NM_181426.2(CCDC39):c.1035-227_1167+308del Deletion Pathogenic 869385 GRCh37: 3:180368881-180369548
GRCh38: 3:180651093-180651760
2 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs) Indel Pathogenic 65994 rs587778821 GRCh37: 3:180334661-180334663
GRCh38: 3:180616873-180616875
3 CCDC39 NM_181426.2(CCDC39):c.1244_1261delinsGG (p.Lys415fs) Indel Pathogenic 869378 GRCh37: 3:180366054-180366071
GRCh38: 3:180648266-180648283
4 CCDC39 NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) SNV Pathogenic 419341 rs772219642 GRCh37: 3:180337086-180337086
GRCh38: 3:180619298-180619298
5 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2365del (p.Thr789fs) Deletion Pathogenic 1027897 GRCh37: 3:180334655-180334655
GRCh38: 3:180616867-180616867
6 CCDC39 NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs) Deletion Pathogenic 1032565 GRCh37: 3:180364909-180364910
GRCh38: 3:180647121-180647122
7 CCDC39 NM_181426.2(CCDC39):c.357+1G>C SNV Pathogenic 31067 rs397515392 GRCh37: 3:180379648-180379648
GRCh38: 3:180661860-180661860
8 CCDC39 NM_181426.2(CCDC39):c.2190del (p.Glu731fs) Deletion Pathogenic 65950 rs587778820 GRCh37: 3:180337122-180337122
GRCh38: 3:180619334-180619334
9 CCDC39 NM_181426.2(CCDC39):c.1072del (p.Thr358fs) Deletion Pathogenic 65998 rs587778822 GRCh37: 3:180369284-180369284
GRCh38: 3:180651496-180651496
10 CCDC39 CCDC39, 3-BP DEL/1-BP INS, NT2357 Indel Pathogenic 31068 GRCh37:
GRCh38:
11 CCDC39 NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter) SNV Pathogenic 455014 rs201780665 GRCh37: 3:180359860-180359860
GRCh38: 3:180642072-180642072
12 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs) Deletion Pathogenic 955889 GRCh37: 3:180334382-180334383
GRCh38: 3:180616594-180616595
13 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2596G>T (p.Glu866Ter) SNV Pathogenic 844752 GRCh37: 3:180334142-180334142
GRCh38: 3:180616354-180616354
14 CCDC39 NM_181426.2(CCDC39):c.610-2A>G SNV Pathogenic 216140 rs756235547 GRCh37: 3:180377370-180377370
GRCh38: 3:180659582-180659582
15 CCDC39 NM_181426.2(CCDC39):c.828_829CA[1] (p.Thr277fs) Microsatellite Pathogenic/Likely pathogenic 242176 rs773801386 GRCh37: 3:180372649-180372650
GRCh38: 3:180654861-180654862
16 CCDC39 NM_181426.2(CCDC39):c.1167G>A (p.Lys389=) SNV Likely pathogenic 978709 GRCh37: 3:180369189-180369189
GRCh38: 3:180651401-180651401
17 CCDC39 NM_181426.2(CCDC39):c.782T>A (p.Leu261Ter) SNV Likely pathogenic 995571 GRCh37: 3:180372698-180372698
GRCh38: 3:180654910-180654910
18 CCDC39 NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) SNV Conflicting interpretations of pathogenicity 166806 rs183413880 GRCh37: 3:180369283-180369283
GRCh38: 3:180651495-180651495
19 CCDC39 NM_181426.2(CCDC39):c.1176T>C (p.Asp392=) SNV Uncertain significance 697611 rs749497447 GRCh37: 3:180366139-180366139
GRCh38: 3:180648351-180648351
20 CCDC39 NM_181426.2(CCDC39):c.885G>A (p.Thr295=) SNV Uncertain significance 695450 rs775454434 GRCh37: 3:180372595-180372595
GRCh38: 3:180654807-180654807
21 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2823A>G (p.Lys941=) SNV Uncertain significance 262972 rs751844801 GRCh37: 3:180332712-180332712
GRCh38: 3:180614924-180614924
22 CCDC39 NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser) SNV Uncertain significance 667082 rs145506099 GRCh37: 3:180349301-180349301
GRCh38: 3:180631513-180631513
23 CCDC39 NM_181426.2(CCDC39):c.547T>C (p.Leu183=) SNV Uncertain significance 455025 rs375301243 GRCh37: 3:180377527-180377527
GRCh38: 3:180659739-180659739
24 CCDC39 NM_181426.2(CCDC39):c.1528-3C>T SNV Uncertain significance 853208 GRCh37: 3:180362048-180362048
GRCh38: 3:180644260-180644260
25 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys) SNV Uncertain significance 455022 rs202027034 GRCh37: 3:180334123-180334123
GRCh38: 3:180616335-180616335
26 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2558G>A (p.Arg853His) SNV Uncertain significance 455021 rs147183244 GRCh37: 3:180334332-180334332
GRCh38: 3:180616544-180616544
27 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) SNV Uncertain significance 194907 rs139560004 GRCh37: 3:180334356-180334356
GRCh38: 3:180616568-180616568
28 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2409T>C (p.Cys803=) SNV Uncertain significance 525460 rs201601768 GRCh37: 3:180334481-180334481
GRCh38: 3:180616693-180616693
29 CCDC39 NM_181426.2(CCDC39):c.210+4C>T SNV Uncertain significance 344280 rs182803063 GRCh37: 3:180381651-180381651
GRCh38: 3:180663863-180663863
30 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys) SNV Uncertain significance 344261 rs745852520 GRCh37: 3:180334112-180334112
GRCh38: 3:180616324-180616324
31 CCDC39 NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys) SNV Uncertain significance 344271 rs147383873 GRCh37: 3:180366117-180366117
GRCh38: 3:180648329-180648329
32 CCDC39 NM_181426.2(CCDC39):c.1102A>G (p.Met368Val) SNV Uncertain significance 344272 rs564446820 GRCh37: 3:180369254-180369254
GRCh38: 3:180651466-180651466
33 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2299T>C (p.Leu767=) SNV Uncertain significance 219954 rs200913298 GRCh37: 3:180334721-180334721
GRCh38: 3:180616933-180616933
34 CCDC39 NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=) SNV Uncertain significance 344262 rs376782159 GRCh37: 3:180337678-180337678
GRCh38: 3:180619890-180619890
35 CCDC39 NM_181426.2(CCDC39):c.900T>A (p.His300Gln) SNV Uncertain significance 262977 rs201684898 GRCh37: 3:180372580-180372580
GRCh38: 3:180654792-180654792
36 CCDC39 NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly) SNV Uncertain significance 344274 rs61733577 GRCh37: 3:180372600-180372600
GRCh38: 3:180654812-180654812
37 CCDC39 NM_181426.2(CCDC39):c.863G>A (p.Arg288His) SNV Uncertain significance 344275 rs576805965 GRCh37: 3:180372617-180372617
GRCh38: 3:180654829-180654829
38 CCDC39 NM_181426.2(CCDC39):c.1960G>A (p.Gly654Arg) SNV Uncertain significance 344263 rs371143749 GRCh37: 3:180349295-180349295
GRCh38: 3:180631507-180631507
39 CCDC39 NM_181426.2(CCDC39):c.1896A>G (p.Leu632=) SNV Uncertain significance 262966 rs79353057 GRCh37: 3:180349359-180349359
GRCh38: 3:180631571-180631571
40 CCDC39 NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly) SNV Uncertain significance 242171 rs200277460 GRCh37: 3:180359790-180359790
GRCh38: 3:180642002-180642002
41 CCDC39 NM_181426.2(CCDC39):c.1818T>C (p.His606=) SNV Uncertain significance 344265 rs199503571 GRCh37: 3:180359837-180359837
GRCh38: 3:180642049-180642049
42 CCDC39 NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp) SNV Uncertain significance 525295 rs61733582 GRCh37: 3:180379699-180379699
GRCh38: 3:180661911-180661911
43 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys) SNV Uncertain significance 228476 rs201097154 GRCh37: 3:180334333-180334333
GRCh38: 3:180616545-180616545
44 CCDC39 , TTC14 NM_181426.2(CCDC39):c.*157T>C SNV Uncertain significance 344256 rs886058196 GRCh37: 3:180332552-180332552
GRCh38: 3:180614764-180614764
45 CCDC39 , TTC14 NM_181426.2(CCDC39):c.2800G>A (p.Val934Ile) SNV Uncertain significance 344259 rs886058197 GRCh37: 3:180332735-180332735
GRCh38: 3:180614947-180614947
46 CCDC39 NM_181426.2(CCDC39):c.42G>A (p.Gly14=) SNV Uncertain significance 344282 rs759103433 GRCh37: 3:180397127-180397127
GRCh38: 3:180679339-180679339
47 CCDC39 , TTC14 NM_181426.2(CCDC39):c.*643C>T SNV Uncertain significance 344239 rs190149639 GRCh37: 3:180332066-180332066
GRCh38: 3:180614278-180614278
48 CCDC39 NM_181426.2(CCDC39):c.1285T>C (p.Ser429Pro) SNV Uncertain significance 899396 GRCh37: 3:180366030-180366030
GRCh38: 3:180648242-180648242
49 CCDC39 , TTC14 NM_181426.2(CCDC39):c.*842A>G SNV Uncertain significance 900339 GRCh37: 3:180331867-180331867
GRCh38: 3:180614079-180614079
50 CCDC39 , TTC14 NM_181426.2(CCDC39):c.*161T>A SNV Uncertain significance 344255 rs886058195 GRCh37: 3:180332548-180332548
GRCh38: 3:180614760-180614760

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
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32 ICD10
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57 OMIM® (Updated 20-May-2021)
61 PubMed
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