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 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 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 : 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 recurrent respiratory infections 32 HP:0002205
2 situs inversus totalis 32 HP:0001696
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 top 50) (show all 133)
# 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.2261dupT (p.Met754Ilefs) duplication Pathogenic rs672601333 GRCh38 Chromosome 5, 13894820: 13894820
9 DNAH5 NM_001369.2(DNAH5): c.2261dupT (p.Met754Ilefs) duplication Pathogenic rs672601333 GRCh37 Chromosome 5, 13894929: 13894929
10 DNAH5 DNAH5, 6249G-A single nucleotide variant Pathogenic
11 DNAH5 NM_001369.2(DNAH5): c.1121T> C (p.Ile374Thr) single nucleotide variant Uncertain significance rs147499872 GRCh37 Chromosome 5, 13916533: 13916533
12 DNAH5 NM_001369.2(DNAH5): c.1121T> C (p.Ile374Thr) single nucleotide variant Uncertain significance rs147499872 GRCh38 Chromosome 5, 13916424: 13916424
13 DNAH5 DNAH5, GLY1047ARG undetermined variant Pathogenic
14 DNAH5 NM_001369.2(DNAH5): c.10815delT (p.Pro3606Hisfs) deletion Pathogenic rs397515540 GRCh37 Chromosome 5, 13753399: 13753399
15 DNAH5 NM_001369.2(DNAH5): c.10815delT (p.Pro3606Hisfs) deletion Pathogenic rs397515540 GRCh38 Chromosome 5, 13753290: 13753290
16 DNAH5 NM_001369.2(DNAH5): c.1730G> C (p.Arg577Thr) single nucleotide variant Pathogenic rs397515541 GRCh37 Chromosome 5, 13902162: 13902162
17 DNAH5 NM_001369.2(DNAH5): c.1730G> C (p.Arg577Thr) single nucleotide variant Pathogenic rs397515541 GRCh38 Chromosome 5, 13902053: 13902053
18 DNAH5 NM_001369.2(DNAH5): c.5882+133A> G single nucleotide variant Uncertain significance rs530043272 GRCh38 Chromosome 5, 13839223: 13839223
19 DNAH5 NM_001369.2(DNAH5): c.5882+133A> G single nucleotide variant Uncertain significance rs530043272 GRCh37 Chromosome 5, 13839332: 13839332
20 DNAH5 NM_001369.2(DNAH5): c.11570+124G> C single nucleotide variant Likely benign rs543104462 GRCh38 Chromosome 5, 13735694: 13735694
21 DNAH5 NM_001369.2(DNAH5): c.11570+124G> C single nucleotide variant Likely benign rs543104462 GRCh37 Chromosome 5, 13735803: 13735803
22 DNAH5 NM_001369.2(DNAH5): c.3514C> A (p.Gln1172Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs141168110 GRCh37 Chromosome 5, 13871757: 13871757
23 DNAH5 NM_001369.2(DNAH5): c.3514C> A (p.Gln1172Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs141168110 GRCh38 Chromosome 5, 13871648: 13871648
24 DNAH5 NM_001369.2(DNAH5): c.1647C> G (p.Asn549Lys) single nucleotide variant Benign/Likely benign rs139160176 GRCh38 Chromosome 5, 13902136: 13902136
25 DNAH5 NM_001369.2(DNAH5): c.1647C> G (p.Asn549Lys) single nucleotide variant Benign/Likely benign rs139160176 GRCh37 Chromosome 5, 13902245: 13902245
26 DNAH5 NM_001369.2(DNAH5): c.8449-12T> C single nucleotide variant Benign/Likely benign rs111313933 GRCh38 Chromosome 5, 13788926: 13788926
27 DNAH5 NM_001369.2(DNAH5): c.8449-12T> C single nucleotide variant Benign/Likely benign rs111313933 GRCh37 Chromosome 5, 13789035: 13789035
28 DNAH5 NM_001369.2(DNAH5): c.3301G> A (p.Val1101Met) single nucleotide variant Benign/Likely benign rs61747516 GRCh37 Chromosome 5, 13876888: 13876888
29 DNAH5 NM_001369.2(DNAH5): c.3301G> A (p.Val1101Met) single nucleotide variant Benign/Likely benign rs61747516 GRCh38 Chromosome 5, 13876779: 13876779
30 DNAH5 NM_001369.2(DNAH5): c.3241A> G (p.Met1081Val) single nucleotide variant Benign/Likely benign rs16902880 GRCh38 Chromosome 5, 13882749: 13882749
31 DNAH5 NM_001369.2(DNAH5): c.3241A> G (p.Met1081Val) single nucleotide variant Benign/Likely benign rs16902880 GRCh37 Chromosome 5, 13882858: 13882858
32 DNAH5 NM_001369.2(DNAH5): c.2683G> A (p.Glu895Lys) single nucleotide variant Benign/Likely benign rs76229167 GRCh37 Chromosome 5, 13886133: 13886133
33 DNAH5 NM_001369.2(DNAH5): c.2683G> A (p.Glu895Lys) single nucleotide variant Benign/Likely benign rs76229167 GRCh38 Chromosome 5, 13886024: 13886024
34 DNAH5 NM_001369.2(DNAH5): c.58-13T> C single nucleotide variant Benign/Likely benign rs115758625 GRCh38 Chromosome 5, 13931257: 13931257
35 DNAH5 NM_001369.2(DNAH5): c.58-13T> C single nucleotide variant Benign/Likely benign rs115758625 GRCh37 Chromosome 5, 13931366: 13931366
36 DNAH5 NM_001369.2(DNAH5): c.7998G> T (p.Glu2666Asp) single nucleotide variant Uncertain significance rs148720124 GRCh38 Chromosome 5, 13793948: 13793948
37 DNAH5 NM_001369.2(DNAH5): c.7998G> T (p.Glu2666Asp) single nucleotide variant Uncertain significance rs148720124 GRCh37 Chromosome 5, 13794057: 13794057
38 DNAH5 NM_001369.2(DNAH5): c.1206T> A (p.Asn402Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140782270 GRCh38 Chromosome 5, 13914634: 13914634
39 DNAH5 NM_001369.2(DNAH5): c.1206T> A (p.Asn402Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140782270 GRCh37 Chromosome 5, 13914743: 13914743
40 DNAH5 NM_001369.2(DNAH5): c.7531C> T (p.Arg2511Trp) single nucleotide variant Uncertain significance rs564040169 GRCh37 Chromosome 5, 13810246: 13810246
41 DNAH5 NM_001369.2(DNAH5): c.7531C> T (p.Arg2511Trp) single nucleotide variant Uncertain significance rs564040169 GRCh38 Chromosome 5, 13810137: 13810137
42 DNAH5 NM_001369.2(DNAH5): c.7752+10T> C single nucleotide variant Benign/Likely benign rs149460805 GRCh37 Chromosome 5, 13809143: 13809143
43 DNAH5 NM_001369.2(DNAH5): c.7752+10T> C single nucleotide variant Benign/Likely benign rs149460805 GRCh38 Chromosome 5, 13809034: 13809034
44 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh37 Chromosome 5, 13865784: 13865784
45 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh38 Chromosome 5, 13865675: 13865675
46 DNAH5 NM_001369.2(DNAH5): c.12379C> T (p.Arg4127Cys) single nucleotide variant Uncertain significance rs148696723 GRCh37 Chromosome 5, 13719111: 13719111
47 DNAH5 NM_001369.2(DNAH5): c.12379C> T (p.Arg4127Cys) single nucleotide variant Uncertain significance rs148696723 GRCh38 Chromosome 5, 13719002: 13719002
48 DNAH5 NM_001369.2(DNAH5): c.12251G> A (p.Arg4084Gln) single nucleotide variant Uncertain significance rs140832239 GRCh38 Chromosome 5, 13721028: 13721028
49 DNAH5 NM_001369.2(DNAH5): c.12251G> A (p.Arg4084Gln) single nucleotide variant Uncertain significance rs140832239 GRCh37 Chromosome 5, 13721137: 13721137
50 DNAH5 NM_001369.2(DNAH5): c.8999G> A (p.Arg3000Gln) single nucleotide variant Uncertain significance rs137949961 GRCh37 Chromosome 5, 13777417: 13777417

Expression for Ciliary Dyskinesia, Primary, 3

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Pathways for Ciliary Dyskinesia, Primary, 3

GO Terms for Ciliary Dyskinesia, Primary, 3

Sources for Ciliary Dyskinesia, Primary, 3

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