CILD17
MCID: CLR102
MIFTS: 30

Ciliary Dyskinesia, Primary, 17 (CILD17)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 17

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 17:

Name: Ciliary Dyskinesia, Primary, 17 57 72 29 13 6 70
Cild17 57 12 72
Primary Ciliary Dyskinesia 17 with or Without Situs Inversus 12 72
Ciliary Dyskinesia, Primary, 17, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 17 39
Primary Ciliary Dyskinesia 17 12
Immotile Cilia Syndrome 17 72
Ics17 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth


HPO:

31
ciliary dyskinesia, primary, 17:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110621
OMIM® 57 614679
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
UMLS 70 C3542550

Summaries for Ciliary Dyskinesia, Primary, 17

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 17: 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, 17, also known as cild17, is related to ciliary dyskinesia, primary, 1 and chromosome 17q12 duplication syndrome. An important gene associated with Ciliary Dyskinesia, Primary, 17 is CCDC103 (Coiled-Coil Domain Containing 103). Related phenotypes are situs inversus totalis and recurrent respiratory infections

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has material basis in homozygous mutation in the CCDC103 gene on chromosome 17q21.

OMIM® : 57 Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (614679) (Updated 20-May-2021)

Related Diseases for Ciliary Dyskinesia, Primary, 17

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

# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1 9.9 FAM187A CCDC103
2 chromosome 17q12 duplication syndrome 9.8 FAM187A CCDC103
3 ciliary dyskinesia, primary, 8 9.8 FAM187A CCDC103
4 ciliary dyskinesia, primary, 4 9.8 FAM187A CCDC103
5 kbg syndrome 9.7 FAM187A CCDC103
6 visceral heterotaxy 9.7 FAM187A CCDC103
7 kartagener syndrome 9.6 FAM187A CCDC103
8 primary ciliary dyskinesia 9.3 GFAP FAM187A CCDC103

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 17:



Diseases related to Ciliary Dyskinesia, Primary, 17

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 17

Human phenotypes related to Ciliary Dyskinesia, Primary, 17:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 occasional (7.5%) HP:0001696
2 recurrent respiratory infections 31 HP:0002205
3 cough 31 HP:0012735
4 bronchiectasis 31 HP:0002110
5 ciliary dyskinesia 31 HP:0012265
6 chronic rhinitis 31 HP:0002257
7 abnormal respiratory motile cilium morphology 31 HP:0005938
8 chronic sinusitis 31 HP:0011109

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
recurrent respiratory infections
recurrent cough

Head And Neck Nose:
chronic rhinitis

Abdomen:
situs inversus (in some patients)

Laboratory Abnormalities:
immotile or weakly motile cilia
loss of ciliary beat coordination
inner and outer dynein arm defects, variable

Respiratory Lung:
bronchiectasis

Head And Neck Head:
chronic sinusitis

Head And Neck Ears:
chronic otitis

Cardiovascular Heart:
dextrocardia (in some)

Clinical features from OMIM®:

614679 (Updated 20-May-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 17

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 17

Genetic Tests for Ciliary Dyskinesia, Primary, 17

Genetic tests related to Ciliary Dyskinesia, Primary, 17:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 17 29 CCDC103

Anatomical Context for Ciliary Dyskinesia, Primary, 17

Publications for Ciliary Dyskinesia, Primary, 17

Articles related to Ciliary Dyskinesia, Primary, 17:

# Title Authors PMID Year
1
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 57 6
22581229 2012
2
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. 6
28790179 2018
3
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 6
27637300 2016
4
A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 6
26123568 2015
5
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 6
24357714 2013
6
High prevalence of primary ciliary dyskinesia in a British Asian population. 57
19720631 2010
7
Aetiology in adult patients with bronchiectasis. 61
17223027 2007

Variations for Ciliary Dyskinesia, Primary, 17

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 17:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC103 NM_213607.3(CCDC103):c.383dup (p.Pro129fs) Duplication Pathogenic 31697 rs587776910 GRCh37: 17:42979834-42979835
GRCh38: 17:44902466-44902467
2 CCDC103 NM_213607.3(CCDC103):c.461A>C (p.His154Pro) SNV Conflicting interpretations of pathogenicity 31698 rs145457535 GRCh37: 17:42979917-42979917
GRCh38: 17:44902549-44902549
3 CCDC103 , FAM187A , GFAP NM_213607.3(CCDC103):c.*789C>T SNV Uncertain significance 323591 rs144369192 GRCh37: 17:42980974-42980974
GRCh38: 17:44903606-44903606
4 CCDC103 NM_213607.3(CCDC103):c.275C>T (p.Pro92Leu) SNV Uncertain significance 411698 rs142342712 GRCh37: 17:42979019-42979019
GRCh38: 17:44901651-44901651
5 CCDC103 NM_213607.3(CCDC103):c.-131C>A SNV Uncertain significance 323577 rs558940643 GRCh37: 17:42977106-42977106
GRCh38: 17:44899738-44899738
6 CCDC103 NM_213607.3(CCDC103):c.348G>C (p.Gly116=) SNV Uncertain significance 699888 rs575078578 GRCh37: 17:42979804-42979804
GRCh38: 17:44902436-44902436
7 CCDC103 NM_213607.3(CCDC103):c.627G>A (p.Glu209=) SNV Uncertain significance 323585 rs200474997 GRCh37: 17:42980083-42980083
GRCh38: 17:44902715-44902715
8 CCDC103 NM_213607.3(CCDC103):c.-113G>A SNV Uncertain significance 323578 rs148582322 GRCh37: 17:42977124-42977124
GRCh38: 17:44899756-44899756
9 CCDC103 NM_213607.3(CCDC103):c.-11G>A SNV Uncertain significance 323581 rs886053013 GRCh37: 17:42977226-42977226
GRCh38: 17:44899858-44899858
10 CCDC103 NM_213607.3(CCDC103):c.513G>A (p.Ala171=) SNV Uncertain significance 323583 rs557822238 GRCh37: 17:42979969-42979969
GRCh38: 17:44902601-44902601
11 CCDC103 NM_213607.3(CCDC103):c.-74G>C SNV Uncertain significance 323579 rs886053012 GRCh37: 17:42977163-42977163
GRCh38: 17:44899795-44899795
12 CCDC103 NM_213607.3(CCDC103):c.8G>A (p.Arg3Lys) SNV Uncertain significance 323582 rs886053014 GRCh37: 17:42978374-42978374
GRCh38: 17:44901006-44901006
13 CCDC103 NM_213607.3(CCDC103):c.606C>A (p.Gly202=) SNV Uncertain significance 323584 rs763062802 GRCh37: 17:42980062-42980062
GRCh38: 17:44902694-44902694
14 CCDC103 NM_213607.3(CCDC103):c.*307C>A SNV Uncertain significance 323586 rs188688493 GRCh37: 17:42980492-42980492
GRCh38: 17:44903124-44903124
15 CCDC103 NM_213607.3(CCDC103):c.-16C>T SNV Uncertain significance 888960 GRCh37: 17:42977221-42977221
GRCh38: 17:44899853-44899853
16 CCDC103 NM_213607.3(CCDC103):c.72G>A (p.Glu24=) SNV Uncertain significance 888961 GRCh37: 17:42978438-42978438
GRCh38: 17:44901070-44901070
17 CCDC103 NM_213607.3(CCDC103):c.554G>A (p.Arg185Gln) SNV Uncertain significance 889644 GRCh37: 17:42980010-42980010
GRCh38: 17:44902642-44902642
18 CCDC103 NM_213607.3(CCDC103):c.671G>C (p.Gly224Ala) SNV Uncertain significance 889645 GRCh37: 17:42980127-42980127
GRCh38: 17:44902759-44902759
19 CCDC103 NM_213607.3(CCDC103):c.*19G>C SNV Uncertain significance 891209 GRCh37: 17:42980204-42980204
GRCh38: 17:44902836-44902836
20 CCDC103 NM_213607.3(CCDC103):c.*24C>T SNV Uncertain significance 891210 GRCh37: 17:42980209-42980209
GRCh38: 17:44902841-44902841
21 CCDC103 , GFAP NM_213607.3(CCDC103):c.*584G>A SNV Uncertain significance 891211 GRCh37: 17:42980769-42980769
GRCh38: 17:44903401-44903401
22 CCDC103 NM_213607.3(CCDC103):c.-135C>T SNV Uncertain significance 892354 GRCh37: 17:42977102-42977102
GRCh38: 17:44899734-44899734
23 CCDC103 NM_001258397.1(CCDC103):c.-150A>G SNV Uncertain significance 323575 rs886053011 GRCh37: 17:42977087-42977087
GRCh38: 17:44899719-44899719
24 CCDC103 NM_001258397.1(CCDC103):c.-141C>T SNV Uncertain significance 323576 rs546976256 GRCh37: 17:42977096-42977096
GRCh38: 17:44899728-44899728
25 CCDC103 , FAM187A , GFAP NM_213607.3(CCDC103):c.*795G>A SNV Uncertain significance 323592 rs886053016 GRCh37: 17:42980980-42980980
GRCh38: 17:44903612-44903612
26 CCDC103 , FAM187A , GFAP NM_213607.3(CCDC103):c.*789C>A SNV Uncertain significance 323590 rs144369192 GRCh37: 17:42980974-42980974
GRCh38: 17:44903606-44903606
27 CCDC103 , FAM187A , GFAP NM_213607.3(CCDC103):c.*685C>T SNV Uncertain significance 323587 rs539555310 GRCh37: 17:42980870-42980870
GRCh38: 17:44903502-44903502
28 CCDC103 , FAM187A , GFAP NM_213607.3(CCDC103):c.*821G>A SNV Uncertain significance 323593 rs886053017 GRCh37: 17:42981006-42981006
GRCh38: 17:44903638-44903638
29 CCDC103 , FAM187A , GFAP NM_213607.3(CCDC103):c.*733C>T SNV Uncertain significance 323588 rs542384155 GRCh37: 17:42980918-42980918
GRCh38: 17:44903550-44903550
30 CCDC103 , FAM187A , GFAP NM_213607.3(CCDC103):c.*787C>T SNV Uncertain significance 323589 rs886053015 GRCh37: 17:42980972-42980972
GRCh38: 17:44903604-44903604
31 CCDC103 , FAM187A , GFAP NM_213607.3(CCDC103):c.*739T>C SNV Uncertain significance 891212 GRCh37: 17:42980924-42980924
GRCh38: 17:44903556-44903556
32 CCDC103 , FAM187A , GFAP NM_213607.3(CCDC103):c.*784C>A SNV Uncertain significance 891213 GRCh37: 17:42980969-42980969
GRCh38: 17:44903601-44903601
33 CCDC103 NM_213607.3(CCDC103):c.359A>G (p.Tyr120Cys) SNV Uncertain significance 242264 rs149858795 GRCh37: 17:42979815-42979815
GRCh38: 17:44902447-44902447
34 CCDC103 NM_213607.3(CCDC103):c.104G>A (p.Arg35Gln) SNV Uncertain significance 888962 GRCh37: 17:42978470-42978470
GRCh38: 17:44901102-44901102
35 CCDC103 NM_213607.3(CCDC103):c.276+6T>C SNV Benign 263318 rs74349463 GRCh37: 17:42979026-42979026
GRCh38: 17:44901658-44901658
36 CCDC103 NM_213607.3(CCDC103):c.*4G>A SNV Benign 263317 rs8079308 GRCh37: 17:42980189-42980189
GRCh38: 17:44902821-44902821
37 CCDC103 NM_213607.3(CCDC103):c.-45G>A SNV Benign 323580 rs2277616 GRCh37: 17:42977192-42977192
GRCh38: 17:44899824-44899824

Expression for Ciliary Dyskinesia, Primary, 17

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 17.

Pathways for Ciliary Dyskinesia, Primary, 17

GO Terms for Ciliary Dyskinesia, Primary, 17

Cellular components related to Ciliary Dyskinesia, Primary, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 outer dynein arm GO:0036157 8.62 FAM187A CCDC103

Biological processes related to Ciliary Dyskinesia, Primary, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axonemal dynein complex assembly GO:0070286 8.62 FAM187A CCDC103

Sources for Ciliary Dyskinesia, Primary, 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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