CILD5
MCID: CLR068
MIFTS: 24

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 56 73 29 13 6 71
Cild5 56 12 73
Primary Ciliary Dyskinesia 5 with or Without Situs Inversus 73
Ciliary Dyskinesia, Primary, 5, Without Situs Inversus 56
Primary Ciliary Dyskinesia 5 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, Type 5 39
Primary Ciliary Dyskinesia 5 12
Immotile Cilia Syndrome 5 73
Ics5 73

Characteristics:

OMIM:

56
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 56 608647
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
MedGen 41 C1837615
UMLS 71 C1837615

Summaries for Ciliary Dyskinesia, Primary, 5

UniProtKB/Swiss-Prot : 73 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 : 56 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

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 rhinitis 31 HP:0012384
5 ciliary dyskinesia 31 HP:0012265
6 recurrent bronchitis 31 HP:0002837
7 recurrent sinusitis 31 HP:0011108
8 respiratory insufficiency due to defective ciliary clearance 31 HP:0200073

Symptoms via clinical synopsis from OMIM:

56
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

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. 6 56
23849777 2013
2
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. 56 6
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. 56 6
14985390 2004
4
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
5
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
6
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
7
Primary Ciliary Dyskinesia 6
20301301 2007
8
Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. 56
9387968 1997
9
Multiple carrier-transfer pathways in a flower-like In2S3/CdIn2S4/In2O3 ternary heterostructure for enhanced photocatalytic hydrogen production. 61
29664490 2018

Variations for Ciliary Dyskinesia, Primary, 5

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HYDIN NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu)SNV Pathogenic 39698 rs397515413 16:71022036-71022036 16:70988133-70988133
2 HYDIN NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)SNV Pathogenic 39699 rs397515414 16:71171175-71171175 16:71137272-71137272
3 HYDIN NM_001270974.2(HYDIN):c.3786-1G>TSNV Pathogenic 65472 rs373501414 16:71025300-71025300 16:70991397-70991397
4 HYDIN NM_001270974.2(HYDIN):c.12586A>G (p.Lys4196Glu)SNV Uncertain significance 545549 rs374224023 16:70884416-70884416 16:70850513-70850513
5 HYDIN NM_001270974.2(HYDIN):c.7450C>T (p.Pro2484Ser)SNV Uncertain significance 545550 rs201875517 16:70954829-70954829 16:70920926-70920926
6 HYDIN NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln)SNV Uncertain significance 547951 rs113448164 16:71220668-71220668 16:71186765-71186765
7 HYDIN NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp)SNV Uncertain significance 691975 rs200260585 16:70905984-70905984 16:70872081-70872081

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

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