MCID: CLR114
MIFTS: 23

Ciliary Dyskinesia, Primary, 30

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 30

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 30:

Name: Ciliary Dyskinesia, Primary, 30 57 75 29 6 73
Cild30 57 12 75
Ciliary Dyskinesia, Primary, 30, with or Without Situs Inversus 57
Primary Ciliary Dyskinesia 30 with or Without Situs Inversus 75
Primary Ciliary Dyskinesia 30 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 30 40
Primary Ciliary Dyskinesia 30 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

32
ciliary dyskinesia, primary, 30:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 30

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 30: 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. Patients may 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, 30, also known as cild30, is related to polycystic liver disease, and has symptoms including coughing An important gene associated with Ciliary Dyskinesia, Primary, 30 is CCDC151 (Coiled-Coil Domain Containing 151). 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, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has material basis in homozygous mutation in the CCDC151 gene on chromosome 19p13.

Description from OMIM: 616037

Related Diseases for Ciliary Dyskinesia, Primary, 30

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 30

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
asthma
cough
respiratory infections, recurrent
respiratory insufficiency, neonatal
respiratory insufficiency due to defective ciliary clearance

Head And Neck Nose:
nasal polyps
nasal blockage

Laboratory Abnormalities:
decreased nasal nitric oxide
lack of ciliary motility
electron microscopy of patient respiratory cells shows absent outer dynein arms in the axoneme

Abdomen:
situs inversus (in about 50% of patients)

Respiratory Airways:
chronic bronchitis

Head And Neck Ears:
otitis media, recurrent

Cardiovascular Heart:
dextrocardia (in some patients)


Clinical features from OMIM:

616037

Human phenotypes related to Ciliary Dyskinesia, Primary, 30:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 situs inversus totalis 32 HP:0001696
3 nasal obstruction 32 HP:0001742
4 asthma 32 HP:0002099
5 bronchiectasis 32 HP:0002110
6 chronic bronchitis 32 HP:0004469
7 ciliary dyskinesia 32 HP:0012265
8 cough 32 HP:0012735
9 nasal polyposis 32 HP:0100582
10 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073

UMLS symptoms related to Ciliary Dyskinesia, Primary, 30:


coughing

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 30

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 30

Genetic Tests for Ciliary Dyskinesia, Primary, 30

Genetic tests related to Ciliary Dyskinesia, Primary, 30:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 30 29 CCDC151

Anatomical Context for Ciliary Dyskinesia, Primary, 30

Publications for Ciliary Dyskinesia, Primary, 30

Variations for Ciliary Dyskinesia, Primary, 30

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 30:

6
(show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC151 NM_145045.4(CCDC151): c.925G> T (p.Glu309Ter) single nucleotide variant Pathogenic rs587777779 GRCh38 Chromosome 19, 11426182: 11426182
2 CCDC151 NM_145045.4(CCDC151): c.925G> T (p.Glu309Ter) single nucleotide variant Pathogenic rs587777779 GRCh37 Chromosome 19, 11537002: 11537002
3 CCDC151 NM_145045.4(CCDC151): c.1256C> A (p.Ser419Ter) single nucleotide variant Pathogenic rs587777780 GRCh37 Chromosome 19, 11533390: 11533390
4 CCDC151 NM_145045.4(CCDC151): c.1256C> A (p.Ser419Ter) single nucleotide variant Pathogenic rs587777780 GRCh38 Chromosome 19, 11422722: 11422722
5 CCDC151 NM_145045.4(CCDC151): c.173T> C (p.Phe58Ser) single nucleotide variant Benign rs61741137 GRCh37 Chromosome 19, 11545665: 11545665
6 CCDC151 NM_145045.4(CCDC151): c.173T> C (p.Phe58Ser) single nucleotide variant Benign rs61741137 GRCh38 Chromosome 19, 11434844: 11434844
7 CCDC151 NM_145045.4(CCDC151): c.914A> G (p.Lys305Arg) single nucleotide variant Uncertain significance rs762033637 GRCh38 Chromosome 19, 11426193: 11426193
8 CCDC151 NM_145045.4(CCDC151): c.914A> G (p.Lys305Arg) single nucleotide variant Uncertain significance rs762033637 GRCh37 Chromosome 19, 11537013: 11537013
9 CCDC151 NM_145045.4(CCDC151): c.729C> T (p.Asn243=) single nucleotide variant Benign rs11879596 GRCh37 Chromosome 19, 11537377: 11537377
10 CCDC151 NM_145045.4(CCDC151): c.614C> T (p.Thr205Ile) single nucleotide variant Benign rs35061520 GRCh38 Chromosome 19, 11426783: 11426783
11 CCDC151 NM_145045.4(CCDC151): c.614C> T (p.Thr205Ile) single nucleotide variant Benign rs35061520 GRCh37 Chromosome 19, 11537603: 11537603
12 CCDC151 NM_145045.4(CCDC151): c.216T> A (p.Ala72=) single nucleotide variant Likely benign rs372211022 GRCh37 Chromosome 19, 11545622: 11545622
13 CCDC151 NM_145045.4(CCDC151): c.216T> A (p.Ala72=) single nucleotide variant Likely benign rs372211022 GRCh38 Chromosome 19, 11434801: 11434801
14 CCDC151 NM_145045.4(CCDC151): c.1705G> T (p.Val569Leu) single nucleotide variant Benign rs544310246 GRCh38 Chromosome 19, 11420918: 11420918
15 CCDC151 NM_145045.4(CCDC151): c.1705G> T (p.Val569Leu) single nucleotide variant Benign rs544310246 GRCh37 Chromosome 19, 11531586: 11531586
16 CCDC151 NM_145045.4(CCDC151): c.901A> G (p.Ile301Val) single nucleotide variant Uncertain significance rs750661034 GRCh38 Chromosome 19, 11426206: 11426206
17 CCDC151 NM_145045.4(CCDC151): c.901A> G (p.Ile301Val) single nucleotide variant Uncertain significance rs750661034 GRCh37 Chromosome 19, 11537026: 11537026
18 CCDC151 NM_145045.4(CCDC151): c.729C> T (p.Asn243=) single nucleotide variant Benign rs11879596 GRCh38 Chromosome 19, 11426557: 11426557
19 CCDC151 NM_145045.4(CCDC151): c.148C> T (p.Pro50Ser) single nucleotide variant Benign rs143295007 GRCh37 Chromosome 19, 11545690: 11545690
20 CCDC151 NM_145045.4(CCDC151): c.148C> T (p.Pro50Ser) single nucleotide variant Benign rs143295007 GRCh38 Chromosome 19, 11434869: 11434869
21 CCDC151 NM_145045.4(CCDC151): c.52G> A (p.Asp18Asn) single nucleotide variant Uncertain significance rs578106295 GRCh38 Chromosome 19, 11434965: 11434965
22 CCDC151 NM_145045.4(CCDC151): c.52G> A (p.Asp18Asn) single nucleotide variant Uncertain significance rs578106295 GRCh37 Chromosome 19, 11545786: 11545786
23 CCDC151 NM_145045.4(CCDC151): c.1501G> A (p.Gly501Ser) single nucleotide variant Benign rs77133587 GRCh37 Chromosome 19, 11532434: 11532434
24 CCDC151 NM_145045.4(CCDC151): c.1501G> A (p.Gly501Ser) single nucleotide variant Benign rs77133587 GRCh38 Chromosome 19, 11421766: 11421766
25 CCDC151 NM_145045.4(CCDC151): c.1329G> A (p.Arg443=) single nucleotide variant Likely benign rs758094826 GRCh37 Chromosome 19, 11533244: 11533244
26 CCDC151 NM_145045.4(CCDC151): c.1329G> A (p.Arg443=) single nucleotide variant Likely benign rs758094826 GRCh38 Chromosome 19, 11422576: 11422576
27 CCDC151 NM_145045.4(CCDC151): c.1316A> G (p.Lys439Arg) single nucleotide variant Uncertain significance rs1060501320 GRCh37 Chromosome 19, 11533257: 11533257
28 CCDC151 NM_145045.4(CCDC151): c.1316A> G (p.Lys439Arg) single nucleotide variant Uncertain significance rs1060501320 GRCh38 Chromosome 19, 11422589: 11422589
29 CCDC151 NM_145045.4(CCDC151): c.1203G> A (p.Arg401=) single nucleotide variant Benign rs199934107 GRCh37 Chromosome 19, 11533443: 11533443
30 CCDC151 NM_145045.4(CCDC151): c.1203G> A (p.Arg401=) single nucleotide variant Benign rs199934107 GRCh38 Chromosome 19, 11422775: 11422775
31 CCDC151 NM_145045.4(CCDC151): c.922G> A (p.Ala308Thr) single nucleotide variant Uncertain significance rs201899388 GRCh37 Chromosome 19, 11537005: 11537005
32 CCDC151 NM_145045.4(CCDC151): c.922G> A (p.Ala308Thr) single nucleotide variant Uncertain significance rs201899388 GRCh38 Chromosome 19, 11426185: 11426185
33 CCDC151 NM_145045.4(CCDC151): c.921C> T (p.Arg307=) single nucleotide variant Benign rs61739937 GRCh37 Chromosome 19, 11537006: 11537006
34 CCDC151 NM_145045.4(CCDC151): c.921C> T (p.Arg307=) single nucleotide variant Benign rs61739937 GRCh38 Chromosome 19, 11426186: 11426186
35 CCDC151 NM_145045.4(CCDC151): c.711_713dupAAT (p.Leu237_Met238insIle) duplication Uncertain significance rs1060501309 GRCh37 Chromosome 19, 11537504: 11537506
36 CCDC151 NM_145045.4(CCDC151): c.711_713dupAAT (p.Leu237_Met238insIle) duplication Uncertain significance rs1060501309 GRCh38 Chromosome 19, 11426684: 11426686
37 CCDC151 NM_145045.4(CCDC151): c.145A> C (p.Thr49Pro) single nucleotide variant Benign rs61742088 GRCh37 Chromosome 19, 11545693: 11545693
38 CCDC151 NM_145045.4(CCDC151): c.145A> C (p.Thr49Pro) single nucleotide variant Benign rs61742088 GRCh38 Chromosome 19, 11434872: 11434872
39 CCDC151 NM_145045.4(CCDC151): c.767_787del21 (p.Val256_Leu262del) deletion Uncertain significance rs1064792932 GRCh37 Chromosome 19, 11537319: 11537339
40 CCDC151 NM_145045.4(CCDC151): c.767_787del21 (p.Val256_Leu262del) deletion Uncertain significance rs1064792932 GRCh38 Chromosome 19, 11426499: 11426519
41 CCDC151 NM_145045.4(CCDC151): c.184G> T (p.Ala62Ser) single nucleotide variant Uncertain significance rs996181868 GRCh37 Chromosome 19, 11545654: 11545654
42 CCDC151 NM_145045.4(CCDC151): c.184G> T (p.Ala62Ser) single nucleotide variant Uncertain significance rs996181868 GRCh38 Chromosome 19, 11434833: 11434833
43 CCDC151 NM_145045.4(CCDC151): c.8C> G (p.Ser3Cys) single nucleotide variant Uncertain significance rs756389981 GRCh37 Chromosome 19, 11545830: 11545830
44 CCDC151 NM_145045.4(CCDC151): c.8C> G (p.Ser3Cys) single nucleotide variant Uncertain significance rs756389981 GRCh38 Chromosome 19, 11435009: 11435009
45 CCDC151 NM_145045.4(CCDC151): c.1035G> C (p.Glu345Asp) single nucleotide variant Uncertain significance rs1053136709 GRCh37 Chromosome 19, 11534627: 11534627
46 CCDC151 NM_145045.4(CCDC151): c.1035G> C (p.Glu345Asp) single nucleotide variant Uncertain significance rs1053136709 GRCh38 Chromosome 19, 11423958: 11423958
47 CCDC151 NM_145045.4(CCDC151): c.907G> A (p.Glu303Lys) single nucleotide variant Uncertain significance rs1060501319 GRCh37 Chromosome 19, 11537020: 11537020
48 CCDC151 NM_145045.4(CCDC151): c.907G> A (p.Glu303Lys) single nucleotide variant Uncertain significance rs1060501319 GRCh38 Chromosome 19, 11426200: 11426200
49 CCDC151 NM_145045.4(CCDC151): c.424C> G (p.Leu142Val) single nucleotide variant Benign rs61739927 GRCh37 Chromosome 19, 11541539: 11541539
50 CCDC151 NM_145045.4(CCDC151): c.424C> G (p.Leu142Val) single nucleotide variant Benign rs61739927 GRCh38 Chromosome 19, 11430719: 11430719

Expression for Ciliary Dyskinesia, Primary, 30

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 30.

Pathways for Ciliary Dyskinesia, Primary, 30

GO Terms for Ciliary Dyskinesia, Primary, 30

Sources for Ciliary Dyskinesia, Primary, 30

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