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IllnessKartagener syndrome/primary ciliary dyskinesia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Kartagener syndrome/primary ciliary dyskinesia comprising 2 core genes, 33 guideline-curated genes and altogether 43 curated genes according to the clinical signs

ID
KP0910
Number of genes
39 Accredited laboratory test
Examined sequence length
95,6 kb (Core-/Core-canditate-Genes)
136,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CCDC103729NM_001258395.2AR
CCDC392826NM_181426.2AR
CCDC403429NM_017950.4AR
CCDC651455NM_033124.5AR
CCNO1053NM_021147.5AR
CFAP298873NM_021254.4AR
DNAAF12178NM_178452.6AR
DNAAF111401NM_012472.6AR
DNAAF22370NM_018139.3AR
DNAAF31827NM_001256714.1AR
DNAAF41131NM_001033559.3AD, AR
DNAAF52568NM_017802.4AR
DNAH1113551NM_001277115.2AR
DNAH513875NM_001369.3AR
DNAH814527NM_001206927.2AR
DNAI12100NM_012144.4AR
DNAI21782NM_001172810.3AR
DNAL1573NM_031427.4AR
DRC12223NM_145038.5AR
GAS81448NM_001481.3AR
MCIDAS1165NM_001190787.3AR
NME81767NM_016616.5AR
ODAD12013NM_144577.4AR
ODAD23264NM_018076.5AR
ODAD31788NM_145045.5AR
OFD13039NM_003611.3XL
RPGR2448NM_000328.3XLR
RSPH1930NM_080860.4AR
RSPH4A2151NM_001010892.3AR
RSPH9921NM_001193341.2AR
SPAG12781NM_003114.5AR
ZMYND101323NM_015896.4AR
DNAH112798NM_015512.5AR
DNAH913461NM_001372.4AR
FOXJ11266NM_001454.4AD
GAS2L22643NM_139285.4AR
LZTFL1900NM_020347.4AR
SPEF25469NM_024867.4AR
STK363885NM_001243313.2AR

Informations about the disease

Clinical Comment

Primary ciliary dyskinesia is characterized by chronic respiratory infections, abnormally positioned internal organs and infertility. Symptoms of this disease are caused by malfunctioning cilia and flagella, e.g. in the respiratory tract. Respiratory problems occur in newborns, as well as frequent respiratory infections in early childhood, and eventually bronchiectasis with possibly life-threatening respiratory problems later in life. Half of the patients present with situs inversus totalis, Kartagener syndrome, but usually without apparent health problems. Approximately 12% of affected individuals suffer from heterotaxy syndrome, situs ambiguus with abnormalities of the heart, liver, intestine or spleen, the severity varies widely. Recurrent otitis media is also often seen, which can lead to hearing loss; hydrocephalus, on the other hand, is rare. The disease is mostly inherited in an autosomal recessive manner, rarely X-linked, it can be caused by mutations in several dozen different genes. Mutations in the DNAI1 and DNAH5 genes are responsible for up to one third of cases. Mutations in the other genes associated with this disease are each found in only a small proportion of cases. Yet, in many individuals with primary ciliary dyskinesia, the cause of the disorder remains unclear. Therefore, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1122/

 

Synonyms
  • Alias: Immotile cilia syndrome
  • Alias: Primary ciliary dyskinesia, PCD
  • Allelic: Dyslexia, susceptibility to, 1 (DNAAF4)
  • Allelic: Infertility [panelapp] (CFAP74)
  • Allelic: Male infertility due to sperm motility disorder [MONDO:0018395] (CFAP45)
  • Allelic: Spermatogenic failure 18 (DNAH1)
  • Allelic: Spermatogenic failure 46 (DNAH8)
  • Ciliary dyskinesia, primary [panelapp] (CFAP74)
  • Ciliary dyskinesia, primary, 1, with/-out situs inversus (DNAI1)
  • Ciliary dyskinesia, primary, 10 (DNAAF2)
  • Ciliary dyskinesia, primary, 11 (RSPH4A)
  • Ciliary dyskinesia, primary, 12 (RSPH9)
  • Ciliary dyskinesia, primary, 13 (DNAAF1)
  • Ciliary dyskinesia, primary, 14 (CCDC39)
  • Ciliary dyskinesia, primary, 15 (CCDC40)
  • Ciliary dyskinesia, primary, 16 (DNAL)
  • Ciliary dyskinesia, primary, 17 (CCDC103)
  • Ciliary dyskinesia, primary, 18 (DNAAF5)
  • Ciliary dyskinesia, primary, 19 (LRCC6)
  • Ciliary dyskinesia, primary, 2 (DNAAF3)
  • Ciliary dyskinesia, primary, 20 (CCDC114)
  • Ciliary dyskinesia, primary, 21 (DRC1)
  • Ciliary dyskinesia, primary, 22 (ZMYND10(
  • Ciliary dyskinesia, primary, 23 (ARMC4)
  • Ciliary dyskinesia, primary, 24 (RSPH1)
  • Ciliary dyskinesia, primary, 25 (DNAAF4)
  • Ciliary dyskinesia, primary, 26 (CFAP298)
  • Ciliary dyskinesia, primary, 27 (CCDC65)
  • Ciliary dyskinesia, primary, 28 (SPAG1)
  • Ciliary dyskinesia, primary, 29 (CCNO)
  • Ciliary dyskinesia, primary, 3, with/-out situs inversus (DNAH5)
  • Ciliary dyskinesia, primary, 30 (CCDC151)
  • Ciliary dyskinesia, primary, 32 (RSPH3)
  • Ciliary dyskinesia, primary, 33 (GAS8)
  • Ciliary dyskinesia, primary, 34 (DNAJB13)
  • Ciliary dyskinesia, primary, 35 (TTC25)
  • Ciliary dyskinesia, primary, 36, XL (DNAAF6 syn PIH1D3)
  • Ciliary dyskinesia, primary, 37 (DNAH1)
  • Ciliary dyskinesia, primary, 38 (CFAP300)
  • Ciliary dyskinesia, primary, 39 (LRRC56)
  • Ciliary dyskinesia, primary, 40 (DNAH9)
  • Ciliary dyskinesia, primary, 41 (GAS2L2)
  • Ciliary dyskinesia, primary, 42 (MCIDAS)
  • Ciliary dyskinesia, primary, 43 (FOXJ1)
  • Ciliary dyskinesia, primary, 44 (NEK10)
  • Ciliary dyskinesia, primary, 45 (TTC12)
  • Ciliary dyskinesia, primary, 5 (HYDIN)
  • Ciliary dyskinesia, primary, 6 (NME8)
  • Ciliary dyskinesia, primary, 7, with/-out situs inversus (DNAH11)
  • Ciliary dyskinesia, primary, 9, with/-out situs inversus (DNAI2)
  • Ciliopathies, laterality dis., isomerism, resp. ciliop. incl. non-CF bronchiect. [panelapp] (DNAH8)
  • Heterotaxy [panelapp] (CFAP46)
  • Heterotaxy, visceral, 6, AR (CFAP53)
  • Situs inversus [MONDO:0010029] (CFAP45)
  • Visceral heterotaxy [MONDO:0018677] (CFAP52)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined