MCID: CLR134
MIFTS: 18

Ciliary Dyskinesia, Primary, 3

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 3

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 3:

Name: Ciliary Dyskinesia, Primary, 3 57 75 29 6 73
Ciliary Dyskinesia, Primary, 3, with or Without Situs Inversus 57 75 13
Cild3 57 12 75
Primary Ciliary Dyskinesia 3 with or Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, 3 40
Primary Ciliary Dyskinesia 3 12
Immotile Cilia Syndrome 3 75
Ics3 75

Characteristics:

HPO:

32
ciliary dyskinesia, primary, 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608644
Disease Ontology 12 DOID:0110599
ICD10 33 Q34.8
MedGen 42 C1837618
MeSH 44 D007619
UMLS 73 C1837618

Summaries for Ciliary Dyskinesia, Primary, 3

OMIM : 57 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 situs inversus totalis and recurrent respiratory infections

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 : 75 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

Clinical features from OMIM:

608644

Human phenotypes related to Ciliary Dyskinesia, Primary, 3:

32
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 32 HP:0001696
2 recurrent respiratory infections 32 HP:0002205
3 ciliary dyskinesia 32 HP:0012265

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 29 DNAH5

Anatomical Context for Ciliary Dyskinesia, Primary, 3

Publications for Ciliary Dyskinesia, Primary, 3

Variations for Ciliary Dyskinesia, Primary, 3

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

75 (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 all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH5 DNAH5, 1-BP INS, 5563A insertion Pathogenic
2 DNAH5 DNAH5, IVS74AS, G-C, -1 single nucleotide variant Pathogenic
3 DNAH5 NM_001369.2(DNAH5): c.1828C> T (p.Gln610Ter) single nucleotide variant Pathogenic rs121908853 GRCh37 Chromosome 5, 13901585: 13901585
4 DNAH5 NM_001369.2(DNAH5): c.1828C> T (p.Gln610Ter) single nucleotide variant Pathogenic rs121908853 GRCh38 Chromosome 5, 13901476: 13901476
5 DNAH5 DNAH5, 1-BP INS, 5130A insertion Pathogenic
6 DNAH5 NM_001369.2(DNAH5): c.2261dupT (p.Met754Ilefs) duplication Pathogenic rs672601333 GRCh38 Chromosome 5, 13894820: 13894820
7 DNAH5 NM_001369.2(DNAH5): c.2261dupT (p.Met754Ilefs) duplication Pathogenic rs672601333 GRCh37 Chromosome 5, 13894929: 13894929
8 DNAH5 DNAH5, 6249G-A single nucleotide variant Pathogenic
9 DNAH5 DNAH5, GLY1047ARG undetermined variant Pathogenic
10 DNAH5 NM_001369.2(DNAH5): c.10815delT (p.Pro3606Hisfs) deletion Pathogenic rs397515540 GRCh37 Chromosome 5, 13753399: 13753399
11 DNAH5 NM_001369.2(DNAH5): c.10815delT (p.Pro3606Hisfs) deletion Pathogenic rs397515540 GRCh38 Chromosome 5, 13753290: 13753290
12 DNAH5 NM_001369.2(DNAH5): c.1730G> C (p.Arg577Thr) single nucleotide variant Pathogenic rs397515541 GRCh37 Chromosome 5, 13902162: 13902162
13 DNAH5 NM_001369.2(DNAH5): c.1730G> C (p.Arg577Thr) single nucleotide variant Pathogenic rs397515541 GRCh38 Chromosome 5, 13902053: 13902053
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.9365delT (p.Leu3122Terfs) deletion Pathogenic/Likely pathogenic rs1060501460 GRCh38 Chromosome 5, 13776447: 13776447
17 DNAH5 NM_001369.2(DNAH5): c.9365delT (p.Leu3122Terfs) deletion Pathogenic/Likely pathogenic rs1060501460 GRCh37 Chromosome 5, 13776556: 13776556
18 DNAH5 NM_001369.2(DNAH5): c.4361G> A (p.Arg1454Gln) single nucleotide variant Uncertain significance rs542708170 GRCh37 Chromosome 5, 13864741: 13864741
19 DNAH5 NM_001369.2(DNAH5): c.4361G> A (p.Arg1454Gln) single nucleotide variant Uncertain significance rs542708170 GRCh38 Chromosome 5, 13864632: 13864632
20 DNAH5 NM_001369.2(DNAH5): c.5177T> C (p.Leu1726Pro) single nucleotide variant Likely pathogenic rs138890576 GRCh37 Chromosome 5, 13845040: 13845040
21 DNAH5 NM_001369.2(DNAH5): c.5177T> C (p.Leu1726Pro) single nucleotide variant Likely pathogenic rs138890576 GRCh38 Chromosome 5, 13844931: 13844931
22 DNAH5 NM_001369.2(DNAH5): c.962C> T (p.Ser321Leu) single nucleotide variant Uncertain significance rs201077964 GRCh37 Chromosome 5, 13919298: 13919298
23 DNAH5 NM_001369.2(DNAH5): c.962C> T (p.Ser321Leu) single nucleotide variant Uncertain significance rs201077964 GRCh38 Chromosome 5, 13919189: 13919189

Expression for Ciliary Dyskinesia, Primary, 3

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 3.

Pathways for Ciliary Dyskinesia, Primary, 3

GO Terms for Ciliary Dyskinesia, Primary, 3

Sources for Ciliary Dyskinesia, Primary, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....