CILD3
MCID: CLR134
MIFTS: 19

Ciliary Dyskinesia, Primary, 3 (CILD3)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 3

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 3:

Name: Ciliary Dyskinesia, Primary, 3 58 76 30 6 74
Ciliary Dyskinesia, Primary, 3, with or Without Situs Inversus 58 76 13
Cild3 58 12 76
Primary Ciliary Dyskinesia 3 with or Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, 3 41
Primary Ciliary Dyskinesia 3 12
Immotile Cilia Syndrome 3 76
Ics3 76

Characteristics:

HPO:

33
ciliary dyskinesia, primary, 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110599
OMIM 58 608644
MeSH 45 D007619
ICD10 34 Q34.8
MedGen 43 C1837618
UMLS 74 C1837618

Summaries for Ciliary Dyskinesia, Primary, 3

OMIM : 58 Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). (608644)

MalaCards based summary : Ciliary Dyskinesia, Primary, 3, is also known as ciliary dyskinesia, primary, 3, with or without situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 3 is DNAH5 (Dynein Axonemal Heavy Chain 5). Related phenotypes are recurrent respiratory infections and situs inversus totalis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has material basis in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.

UniProtKB/Swiss-Prot : 76 Ciliary dyskinesia, primary, 3: 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.

Related Diseases for Ciliary Dyskinesia, Primary, 3

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 3

Human phenotypes related to Ciliary Dyskinesia, Primary, 3:

33
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 33 HP:0002205
2 situs inversus totalis 33 HP:0001696
3 ciliary dyskinesia 33 HP:0012265

Clinical features from OMIM:

608644

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 3

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 3

Genetic Tests for Ciliary Dyskinesia, Primary, 3

Genetic tests related to Ciliary Dyskinesia, Primary, 3:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 3 30 DNAH5

Anatomical Context for Ciliary Dyskinesia, Primary, 3

Publications for Ciliary Dyskinesia, Primary, 3

Articles related to Ciliary Dyskinesia, Primary, 3:

# Title Authors Year
1
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. ( 23261302 )
2013
2
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. ( 11788826 )
2002

Variations for Ciliary Dyskinesia, Primary, 3

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 3:

76 (show all 12)
# Symbol AA change Variation ID SNP ID
1 DNAH5 p.Gly3519Arg VAR_019608 rs79967166
2 DNAH5 p.Arg1716Leu VAR_030705 rs74799487
3 DNAH5 p.Ser2264Asn VAR_030706 rs78484669
4 DNAH5 p.Glu2347Lys VAR_030707
5 DNAH5 p.Arg2501Pro VAR_030708 rs78853309
6 DNAH5 p.Phe2843Ser VAR_030709 rs77377082
7 DNAH5 p.Trp3409Ser VAR_030710 rs755407407
8 DNAH5 p.Ser3843Leu VAR_030711 rs78346432
9 DNAH5 p.Gly4205Val VAR_030712 rs79185772
10 DNAH5 p.Arg1454Gln VAR_072469 rs542708170
11 DNAH5 p.Ala2881Gly VAR_072470 rs727502973
12 DNAH5 p.Asp3605Asn VAR_072471

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 3:

6 (show top 50) (show all 146)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH5 DNAH5, 1-BP INS, 5563A insertion Pathogenic
2 DNAH5 NM_001369.2(DNAH5): c.10555G> C (p.Gly3519Arg) single nucleotide variant Pathogenic rs79967166 GRCh37 Chromosome 5, 13754312: 13754312
3 DNAH5 NM_001369.2(DNAH5): c.10555G> C (p.Gly3519Arg) single nucleotide variant Pathogenic rs79967166 GRCh38 Chromosome 5, 13754203: 13754203
4 DNAH5 DNAH5, IVS74AS, G-C, -1 single nucleotide variant Pathogenic
5 DNAH5 NM_001369.2(DNAH5): c.1828C> T (p.Gln610Ter) single nucleotide variant Pathogenic rs121908853 GRCh37 Chromosome 5, 13901585: 13901585
6 DNAH5 NM_001369.2(DNAH5): c.1828C> T (p.Gln610Ter) single nucleotide variant Pathogenic rs121908853 GRCh38 Chromosome 5, 13901476: 13901476
7 DNAH5 DNAH5, 1-BP INS, 5130A insertion Pathogenic
8 DNAH5 NM_001369.2(DNAH5): c.5882+133A> G single nucleotide variant Uncertain significance rs530043272 GRCh38 Chromosome 5, 13839223: 13839223
9 DNAH5 NM_001369.2(DNAH5): c.5882+133A> G single nucleotide variant Uncertain significance rs530043272 GRCh37 Chromosome 5, 13839332: 13839332
10 DNAH5 NM_001369.2(DNAH5): c.11570+124G> C single nucleotide variant Likely benign rs543104462 GRCh38 Chromosome 5, 13735694: 13735694
11 DNAH5 NM_001369.2(DNAH5): c.11570+124G> C single nucleotide variant Likely benign rs543104462 GRCh37 Chromosome 5, 13735803: 13735803
12 DNAH5 NM_001369.2(DNAH5): c.1206T> A (p.Asn402Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140782270 GRCh38 Chromosome 5, 13914634: 13914634
13 DNAH5 NM_001369.2(DNAH5): c.1206T> A (p.Asn402Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140782270 GRCh37 Chromosome 5, 13914743: 13914743
14 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh37 Chromosome 5, 13865784: 13865784
15 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh38 Chromosome 5, 13865675: 13865675
16 DNAH5 NM_001369.2(DNAH5): c.88C> T (p.Arg30Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs114220185 GRCh37 Chromosome 5, 13931323: 13931323
17 DNAH5 NM_001369.2(DNAH5): c.9365delT (p.Leu3122Terfs) deletion Pathogenic/Likely pathogenic rs1060501460 GRCh38 Chromosome 5, 13776447: 13776447
18 DNAH5 NM_001369.2(DNAH5): c.9365delT (p.Leu3122Terfs) deletion Pathogenic/Likely pathogenic rs1060501460 GRCh37 Chromosome 5, 13776556: 13776556
19 DNAH5 NM_001369.2(DNAH5): c.1772T> G (p.Leu591Arg) single nucleotide variant Benign/Likely benign rs35090077 GRCh37 Chromosome 5, 13901641: 13901641
20 DNAH5 NM_001369.2(DNAH5): c.1395C> T (p.Ser465=) single nucleotide variant Benign/Likely benign rs34580014 GRCh38 Chromosome 5, 13913884: 13913884
21 DNAH5 NM_001369.2(DNAH5): c.1395C> T (p.Ser465=) single nucleotide variant Benign/Likely benign rs34580014 GRCh37 Chromosome 5, 13913993: 13913993
22 DNAH5 NM_001369.2(DNAH5): c.4836G> A (p.Val1612=) single nucleotide variant Benign/Likely benign rs34671383 GRCh37 Chromosome 5, 13859675: 13859675
23 DNAH5 NM_001369.2(DNAH5): c.4836G> A (p.Val1612=) single nucleotide variant Benign/Likely benign rs34671383 GRCh38 Chromosome 5, 13859566: 13859566
24 DNAH5 NM_001369.2(DNAH5): c.1090-8T> C single nucleotide variant Benign/Likely benign rs16902950 GRCh38 Chromosome 5, 13916463: 13916463
25 DNAH5 NM_001369.2(DNAH5): c.1090-8T> C single nucleotide variant Benign/Likely benign rs16902950 GRCh37 Chromosome 5, 13916572: 13916572
26 DNAH5 NM_001369.2(DNAH5): c.7465C> T (p.Leu2489=) single nucleotide variant Likely benign rs771511314 GRCh38 Chromosome 5, 13810203: 13810203
27 DNAH5 NM_001369.2(DNAH5): c.7465C> T (p.Leu2489=) single nucleotide variant Likely benign rs771511314 GRCh37 Chromosome 5, 13810312: 13810312
28 DNAH5 NM_001369.2(DNAH5): c.4053+13C> T single nucleotide variant Likely benign rs543363871 GRCh37 Chromosome 5, 13867870: 13867870
29 DNAH5 NM_001369.2(DNAH5): c.4053+13C> T single nucleotide variant Likely benign rs543363871 GRCh38 Chromosome 5, 13867761: 13867761
30 DNAH5 NM_001369.2(DNAH5): c.4361G> A (p.Arg1454Gln) single nucleotide variant Uncertain significance rs542708170 GRCh37 Chromosome 5, 13864741: 13864741
31 DNAH5 NM_001369.2(DNAH5): c.4361G> A (p.Arg1454Gln) single nucleotide variant Uncertain significance rs542708170 GRCh38 Chromosome 5, 13864632: 13864632
32 DNAH5 NM_001369.2(DNAH5): c.1715T> G (p.Leu572Trp) single nucleotide variant Uncertain significance rs137878131 GRCh38 Chromosome 5, 13902068: 13902068
33 DNAH5 NM_001369.2(DNAH5): c.1715T> G (p.Leu572Trp) single nucleotide variant Uncertain significance rs137878131 GRCh37 Chromosome 5, 13902177: 13902177
34 DNAH5 NM_001369.2(DNAH5): c.11725C> T (p.Arg3909Ter) single nucleotide variant Pathogenic rs1060501464 GRCh37 Chromosome 5, 13735276: 13735276
35 DNAH5 NM_001369.2(DNAH5): c.11725C> T (p.Arg3909Ter) single nucleotide variant Pathogenic rs1060501464 GRCh38 Chromosome 5, 13735167: 13735167
36 DNAH5 NM_001369.2(DNAH5): c.5710-2A> G single nucleotide variant Pathogenic rs548521732 GRCh38 Chromosome 5, 13839530: 13839530
37 DNAH5 NM_001369.2(DNAH5): c.5710-2A> G single nucleotide variant Pathogenic rs548521732 GRCh37 Chromosome 5, 13839639: 13839639
38 DNAH5 NM_001369.2(DNAH5): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776686983 GRCh38 Chromosome 5, 13900241: 13900241
39 DNAH5 NM_001369.2(DNAH5): c.2224C> T (p.Arg742Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776686983 GRCh37 Chromosome 5, 13900350: 13900350
40 DNAH5 NM_001369.2(DNAH5): c.8512A> C (p.Ser2838Arg) single nucleotide variant Uncertain significance rs763198301 GRCh37 Chromosome 5, 13788960: 13788960
41 DNAH5 NM_001369.2(DNAH5): c.8512A> C (p.Ser2838Arg) single nucleotide variant Uncertain significance rs763198301 GRCh38 Chromosome 5, 13788851: 13788851
42 DNAH5 NM_001369.2(DNAH5): c.12617G> A (p.Trp4206Ter) single nucleotide variant Pathogenic/Likely pathogenic rs372118787 GRCh37 Chromosome 5, 13717512: 13717512
43 DNAH5 NM_001369.2(DNAH5): c.12617G> A (p.Trp4206Ter) single nucleotide variant Pathogenic/Likely pathogenic rs372118787 GRCh38 Chromosome 5, 13717403: 13717403
44 DNAH5 NM_001369.2(DNAH5): c.1427_1428delTT (p.Phe476Serfs) deletion Likely pathogenic rs774493427 GRCh37 Chromosome 5, 13913959: 13913961
45 DNAH5 NM_001369.2(DNAH5): c.1427_1428delTT (p.Phe476Serfs) deletion Likely pathogenic rs774493427 GRCh38 Chromosome 5, 13913851: 13913852
46 DNAH5 NM_001369.2(DNAH5): c.11140A> G (p.Ile3714Val) single nucleotide variant Uncertain significance rs143185806 GRCh37 Chromosome 5, 13751258: 13751258
47 DNAH5 NM_001369.2(DNAH5): c.11140A> G (p.Ile3714Val) single nucleotide variant Uncertain significance rs143185806 GRCh38 Chromosome 5, 13751149: 13751149
48 DNAH5 NM_001369.2(DNAH5): c.382G> A (p.Val128Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 13923445: 13923445
49 DNAH5 NM_001369.2(DNAH5): c.382G> A (p.Val128Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 13923336: 13923336
50 DNAH5 NM_001369.2(DNAH5): c.6763C> T (p.Arg2255Ter) single nucleotide variant Pathogenic/Likely pathogenic rs745918507 GRCh38 Chromosome 5, 13820424: 13820424

Expression for Ciliary Dyskinesia, Primary, 3

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Pathways for Ciliary Dyskinesia, Primary, 3

GO Terms for Ciliary Dyskinesia, Primary, 3

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