MCID: CLR068
MIFTS: 22

Ciliary Dyskinesia, Primary, 5

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 5

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 5:

Name: Ciliary Dyskinesia, Primary, 5 57 75 29 13 6 73
Cild5 57 12 75
Primary Ciliary Dyskinesia 5 with or Without Situs Inversus 75
Ciliary Dyskinesia, Primary, 5, Without Situs Inversus 57
Primary Ciliary Dyskinesia 5 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 5 40
Primary Ciliary Dyskinesia 5 12
Immotile Cilia Syndrome 5 75
Ics5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

32
ciliary dyskinesia, primary, 5:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608647
Disease Ontology 12 DOID:0110617
ICD10 33 Q34.8
MedGen 42 C1837615
MeSH 44 D007619
UMLS 73 C1837615

Summaries for Ciliary Dyskinesia, Primary, 5

UniProtKB/Swiss-Prot : 75 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 bronchiectasis

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)

Related Diseases for Ciliary Dyskinesia, Primary, 5

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 5

Symptoms via clinical synopsis from OMIM:

57
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 infections, recurrent
respiratory insufficiency due to defective ciliary clearance

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

Human phenotypes related to Ciliary Dyskinesia, Primary, 5:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 bronchiectasis 32 HP:0002110
3 recurrent bronchitis 32 HP:0002837
4 recurrent sinusitis 32 HP:0011108
5 ciliary dyskinesia 32 HP:0012265
6 rhinitis 32 HP:0012384
7 nasal polyposis 32 HP:0100582
8 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073

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:

41
Lung

Publications for Ciliary Dyskinesia, Primary, 5

Variations for Ciliary Dyskinesia, Primary, 5

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh37 Chromosome 16, 71022036: 71022036
2 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh38 Chromosome 16, 70988133: 70988133
3 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh37 Chromosome 16, 71171175: 71171175
4 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh38 Chromosome 16, 71137272: 71137272
5 HYDIN NM_001270974.2(HYDIN): c.3786-1G> T single nucleotide variant Pathogenic rs373501414 GRCh37 Chromosome 16, 71025300: 71025300
6 HYDIN NM_001270974.2(HYDIN): c.3786-1G> T single nucleotide variant Pathogenic rs373501414 GRCh38 Chromosome 16, 70991397: 70991397

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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
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55 Novoseek
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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
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