CILD5
MCID: CLR068
MIFTS: 25

Ciliary Dyskinesia, Primary, 5 (CILD5)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 5

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 5:

Name: Ciliary Dyskinesia, Primary, 5 57 72 29 13 6 70
Cild5 57 12 72
Primary Ciliary Dyskinesia 5 with or Without Situs Inversus 72
Ciliary Dyskinesia, Primary, 5, Without Situs Inversus 57
Primary Ciliary Dyskinesia 5 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 5 39
Primary Ciliary Dyskinesia 5 12
Immotile Cilia Syndrome 5 72
Ics5 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

31
ciliary dyskinesia, primary, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110617
OMIM® 57 608647
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C1837615
UMLS 70 C1837615

Summaries for Ciliary Dyskinesia, Primary, 5

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 5: An autosomal recessive form of primary dyskinesia, 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. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus.

MalaCards based summary : Ciliary Dyskinesia, Primary, 5, is also known as cild5. An important gene associated with Ciliary Dyskinesia, Primary, 5 is HYDIN (HYDIN Axonemal Central Pair Apparatus Protein). Affiliated tissues include lung, and related phenotypes are recurrent otitis media and nasal polyposis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has material basis in homozygous mutation in the HYDIN gene on chromosome 16q22.

OMIM® : 57 CILD5 is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by Olbrich et al., 2012). (608647) (Updated 05-Apr-2021)

Related Diseases for Ciliary Dyskinesia, Primary, 5

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 5

Human phenotypes related to Ciliary Dyskinesia, Primary, 5:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 HP:0000403
2 nasal polyposis 31 HP:0100582
3 bronchiectasis 31 HP:0002110
4 ciliary dyskinesia 31 HP:0012265
5 recurrent bronchitis 31 HP:0002837
6 rhinitis 31 HP:0012384
7 recurrent sinusitis 31 HP:0011108
8 respiratory insufficiency due to defective ciliary clearance 31 HP:0200073

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
bronchiectasis

Head And Neck Nose:
nasal polyps
rhinitis, recurrent

Head And Neck Ears:
otitis media, recurrent

Abdomen:
lack of situs inversus

Respiratory:
respiratory insufficiency due to defective ciliary clearance
respiratory infections, recurrent

Head And Neck Head:
sinusitis, recurrent

Respiratory Airways:
bronchitis, recurrent

Laboratory Abnormalities:
transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition
rare occurrences of 9+0 or 8+1 cilia
high-resolution electron microscopy tomography shows absence of projection c2b at the central pair (cp) apparatus of cilia
respiratory cilia and sperm flagella show reduced coordination of beating activity
reduced beating amplitudes in cilia
more

Clinical features from OMIM®:

608647 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 5

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 5

Genetic Tests for Ciliary Dyskinesia, Primary, 5

Genetic tests related to Ciliary Dyskinesia, Primary, 5:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 5 29 HYDIN

Anatomical Context for Ciliary Dyskinesia, Primary, 5

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 5:

40
Lung

Publications for Ciliary Dyskinesia, Primary, 5

Articles related to Ciliary Dyskinesia, Primary, 5:

# Title Authors PMID Year
1
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. 57 6
23849777 2013
2
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 6 57
23022101 2012
3
Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. 57 6
14985390 2004
4
Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. 57
9387968 1997
5
Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children. 61
32119194 2020

Variations for Ciliary Dyskinesia, Primary, 5

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 5:

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HYDIN NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu) SNV Pathogenic 39698 rs397515413 GRCh37: 16:71022036-71022036
GRCh38: 16:70988133-70988133
2 HYDIN NM_001270974.2(HYDIN):c.3786-1G>T SNV Pathogenic 65472 rs373501414 GRCh37: 16:71025300-71025300
GRCh38: 16:70991397-70991397
3 HYDIN NM_001270974.2(HYDIN):c.12530del (p.Pro4177fs) Deletion Pathogenic 869381 GRCh37: 16:70884472-70884472
GRCh38: 16:70850569-70850569
4 HYDIN NM_001270974.2(HYDIN):c.1095dup (p.Glu366Ter) Duplication Pathogenic 997593 GRCh37: 16:71163674-71163675
GRCh38: 16:71129771-71129772
5 HYDIN NM_001270974.2(HYDIN):c.6853+1G>C SNV Pathogenic 998363 GRCh37: 16:70975538-70975538
GRCh38: 16:70941635-70941635
6 HYDIN NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter) SNV Pathogenic 39699 rs397515414 GRCh37: 16:71171175-71171175
GRCh38: 16:71137272-71137272
7 HYDIN NM_001270974.2(HYDIN):c.2065dup (p.Ile689fs) Duplication Likely pathogenic 870482 GRCh37: 16:71101202-71101203
GRCh38: 16:71067299-71067300
8 HYDIN NM_001270974.2(HYDIN):c.11304del (p.Lys3768fs) Deletion Likely pathogenic 932110 GRCh37: 16:70902479-70902479
GRCh38: 16:70868576-70868576
9 HYDIN NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp) SNV Uncertain significance 691975 rs200260585 GRCh37: 16:70905984-70905984
GRCh38: 16:70872081-70872081
10 HYDIN NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln) SNV Uncertain significance 547951 rs113448164 GRCh37: 16:71220668-71220668
GRCh38: 16:71186765-71186765
11 HYDIN NM_001270974.2(HYDIN):c.12586A>G (p.Lys4196Glu) SNV Uncertain significance 545549 rs374224023 GRCh37: 16:70884416-70884416
GRCh38: 16:70850513-70850513
12 HYDIN NM_001270974.2(HYDIN):c.7450C>T (p.Pro2484Ser) SNV Uncertain significance 545550 rs201875517 GRCh37: 16:70954829-70954829
GRCh38: 16:70920926-70920926
13 HYDIN NM_001270974.2(HYDIN):c.10247T>G (p.Val3416Gly) SNV Uncertain significance 1027858 GRCh37: 16:70913628-70913628
GRCh38: 16:70879725-70879725
14 HYDIN NM_001270974.2(HYDIN):c.11638G>A (p.Asp3880Asn) SNV Uncertain significance 1031945 GRCh37: 16:70896090-70896090
GRCh38: 16:70862187-70862187
15 HYDIN NM_001270974.2(HYDIN):c.14658+5G>A SNV Uncertain significance 1031946 GRCh37: 16:70852240-70852240
GRCh38: 16:70818337-70818337
16 HYDIN NM_001270974.2(HYDIN):c.15092C>T (p.Ser5031Leu) SNV Uncertain significance 1031947 GRCh37: 16:70841757-70841757
GRCh38: 16:70807854-70807854
17 HYDIN NM_001270974.2(HYDIN):c.7483G>A (p.Asp2495Asn) SNV Uncertain significance 1031948 GRCh37: 16:70954796-70954796
GRCh38: 16:70920893-70920893
18 HYDIN NM_001270974.2(HYDIN):c.9248+17C>G SNV Uncertain significance 1031949 GRCh37: 16:70928335-70928335
GRCh38: 16:70894432-70894432
19 HYDIN NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly) SNV Benign 402955 rs2502726 GRCh37: 16:70972595-70972595
GRCh38: 16:70938692-70938692

Expression for Ciliary Dyskinesia, Primary, 5

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 5.

Pathways for Ciliary Dyskinesia, Primary, 5

GO Terms for Ciliary Dyskinesia, Primary, 5

Sources for Ciliary Dyskinesia, Primary, 5

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
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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