CILD13
MCID: CLR059
MIFTS: 27

Ciliary Dyskinesia, Primary, 13 (CILD13)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 13

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 13:

Name: Ciliary Dyskinesia, Primary, 13 56 73 29 13 6 71
Cild13 56 12 73
Primary Ciliary Dyskinesia 13 with or Without Situs Inversus 12 73
Primary Ciliary Dyskinesia 13 12 15
Ciliary Dyskinesia, Primary, 13, with or Without Situs Inversus 56
Dyskinesia, Ciliary, Primary, 13 39
Immotile Cilia Syndrome 13 73
Ics13 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
absence of both inner and outer dynein arms of cilia


HPO:

31
ciliary dyskinesia, primary, 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110618
OMIM 56 613193
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
MedGen 41 C2750790
UMLS 71 C2750790

Summaries for Ciliary Dyskinesia, Primary, 13

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 13: 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. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.

MalaCards based summary : Ciliary Dyskinesia, Primary, 13, also known as cild13, is related to kartagener syndrome. An important gene associated with Ciliary Dyskinesia, Primary, 13 is DNAAF1 (Dynein Axonemal Assembly Factor 1). Related phenotypes are sinusitis and recurrent otitis media

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.

More information from OMIM: 613193 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 13

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3 Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7 Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9 Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17 Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19 Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27 Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32 Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34 Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37 Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Primary, 39 Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41 Ciliary Dyskinesia, Primary, 42
Ciliary Dyskinesia, Primary, 43 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kartagener syndrome 9.6 SPAG16 DNAAF1

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 13

Human phenotypes related to Ciliary Dyskinesia, Primary, 13:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 sinusitis 31 HP:0000246
2 recurrent otitis media 31 HP:0000403
3 infertility 31 HP:0000789
4 situs inversus totalis 31 HP:0001696
5 bronchiectasis 31 HP:0002110
6 ciliary dyskinesia 31 HP:0012265
7 recurrent bronchitis 31 HP:0002837
8 absent outer dynein arms 31 HP:0012256
9 absent inner dynein arms 31 HP:0012257

Symptoms via clinical synopsis from OMIM:

56
Respiratory Nasopharynx:
sinusitis

Genitourinary Internal Genitalia Female:
infertility

Respiratory Lung:
bronchiectasis
bronchitis

Respiratory:
respiratory infections, recurrent, due to defective cilia

Genitourinary Internal Genitalia Male:
infertility

Cardiovascular Heart:
dextrocardia

Abdomen:
situs inversus

Clinical features from OMIM:

613193

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 13

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 13

Genetic Tests for Ciliary Dyskinesia, Primary, 13

Genetic tests related to Ciliary Dyskinesia, Primary, 13:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 13 29 DNAAF1

Anatomical Context for Ciliary Dyskinesia, Primary, 13

Publications for Ciliary Dyskinesia, Primary, 13

Articles related to Ciliary Dyskinesia, Primary, 13:

# Title Authors PMID Year
1
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. 56 6
19944400 2009
2
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. 56 6
19944405 2009
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
6
Primary Ciliary Dyskinesia 6
20301301 2007
7
Expression of nitric oxide synthases in primary ciliary dyskinesia. 61
21663943 2011

Variations for Ciliary Dyskinesia, Primary, 13

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 13:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAAF1 NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)duplication Pathogenic 263 rs397515339 16:84203778-84203779 16:84170172-84170173
2 DNAAF1 NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)SNV Pathogenic 264 rs267607225 16:84193349-84193349 16:84159744-84159744
3 DNAAF1 NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter)SNV Pathogenic 265 rs267607226 16:84193330-84193330 16:84159725-84159725
4 DNAAF1 NM_178452.6(DNAAF1):c.508dup (p.Glu170fs)duplication Pathogenic 266 rs786205052 16:84188335-84188336 16:84154730-84154731
5 DNAAF1 NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)SNV Pathogenic 267 rs267607227 16:84188353-84188353 16:84154748-84154748
6 DNAAF1 NM_001146051.1(HSDL1):c.-7464_-2089deldeletion Pathogenic 65498 16:84180705-84186080 16:84147100-84152475
7 DNAAF1 NM_178452.6(DNAAF1):c.1698+1G>ASNV Conflicting interpretations of pathogenicity 242159 rs139519641 16:84208329-84208329 16:84174723-84174723
8 DNAAF1 NM_178452.6(DNAAF1):c.1196C>T (p.Pro399Leu)SNV Uncertain significance 547852 rs745897840 16:84203630-84203630 16:84170024-84170024
9 DNAAF1 NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val)SNV Uncertain significance 242165 rs139743343 16:84189232-84189232 16:84155627-84155627
10 DNAAF1 NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp)SNV Benign/Likely benign 226573 rs9972733 16:84203730-84203730 16:84170124-84170124
11 DNAAF1 NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)SNV Benign 163085 rs34777958 16:84209609-84209609 16:84176003-84176003
12 DNAAF1 NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=)SNV Benign 163086 rs2288019 16:84209634-84209634 16:84176028-84176028

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 13:

73
# Symbol AA change Variation ID SNP ID
1 DNAAF1 p.Leu175Arg VAR_063098 rs267607227

Expression for Ciliary Dyskinesia, Primary, 13

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 13.

Pathways for Ciliary Dyskinesia, Primary, 13

GO Terms for Ciliary Dyskinesia, Primary, 13

Cellular components related to Ciliary Dyskinesia, Primary, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 8.62 SPAG16 DNAAF1

Biological processes related to Ciliary Dyskinesia, Primary, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.62 SPAG16 DNAAF1

Sources for Ciliary Dyskinesia, Primary, 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....