CILD13
MCID: CLR059
MIFTS: 20

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 57 75 29 13 6 73
Cild13 57 12 75
Primary Ciliary Dyskinesia 13 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 13, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 13 40
Primary Ciliary Dyskinesia 13 12
Immotile Cilia Syndrome 13 75
Ics13 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ciliary dyskinesia, primary, 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613193
Disease Ontology 12 DOID:0110618
ICD10 33 Q34.8
MedGen 42 C2750790
MeSH 44 D007619
UMLS 73 C2750790

Summaries for Ciliary Dyskinesia, Primary, 13

UniProtKB/Swiss-Prot : 75 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, is also known as cild13. 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.

Description from OMIM: 613193

Related Diseases for Ciliary Dyskinesia, Primary, 13

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 13

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ciliary Dyskinesia, Primary, 13:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 sinusitis 32 HP:0000246
2 recurrent otitis media 32 HP:0000403
3 infertility 32 HP:0000789
4 situs inversus totalis 32 HP:0001696
5 bronchiectasis 32 HP:0002110
6 ciliary dyskinesia 32 HP:0012265
7 recurrent bronchitis 32 HP:0002837
8 absent outer dynein arms 32 HP:0012256
9 absent inner dynein arms 32 HP:0012257

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

Variations for Ciliary Dyskinesia, Primary, 13

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

75
# Symbol AA change Variation ID SNP ID
1 DNAAF1 p.Leu175Arg VAR_063098 rs267607227

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAAF1 NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh37 Chromosome 16, 84203783: 84203783
2 DNAAF1 NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh38 Chromosome 16, 84170177: 84170177
3 DNAAF1 NM_178452.5(DNAAF1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs267607225 GRCh37 Chromosome 16, 84193349: 84193349
4 DNAAF1 NM_178452.5(DNAAF1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs267607225 GRCh38 Chromosome 16, 84159744: 84159744
5 DNAAF1 NM_178452.5(DNAAF1): c.792C> A (p.Tyr264Ter) single nucleotide variant Pathogenic rs267607226 GRCh37 Chromosome 16, 84193330: 84193330
6 DNAAF1 NM_178452.5(DNAAF1): c.792C> A (p.Tyr264Ter) single nucleotide variant Pathogenic rs267607226 GRCh38 Chromosome 16, 84159725: 84159725
7 DNAAF1 NM_178452.5(DNAAF1): c.508dup (p.Glu170Glyfs) duplication Pathogenic rs786205052 GRCh37 Chromosome 16, 84188337: 84188337
8 DNAAF1 NM_178452.5(DNAAF1): c.508dup (p.Glu170Glyfs) duplication Pathogenic rs786205052 GRCh38 Chromosome 16, 84154732: 84154732
9 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh37 Chromosome 16, 84188353: 84188353
10 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh38 Chromosome 16, 84154748: 84154748
11 DNAAF1 NM_001146051.1(HSDL1): c.-7464_-2089del deletion Pathogenic GRCh37 Chromosome 16, 84180705: 84186080
12 DNAAF1 NM_001146051.1(HSDL1): c.-7464_-2089del deletion Pathogenic GRCh38 Chromosome 16, 84147100: 84152475
13 DNAAF1 NM_178452.5(DNAAF1): c.1794C> G (p.Leu598=) single nucleotide variant Benign rs2288019 GRCh37 Chromosome 16, 84209634: 84209634
14 DNAAF1 NM_178452.5(DNAAF1): c.1794C> G (p.Leu598=) single nucleotide variant Benign rs2288019 GRCh38 Chromosome 16, 84176028: 84176028
15 DNAAF1 NM_178452.5(DNAAF1): c.1296G> C (p.Glu432Asp) single nucleotide variant Benign/Likely benign rs9972733 GRCh37 Chromosome 16, 84203730: 84203730
16 DNAAF1 NM_178452.5(DNAAF1): c.1296G> C (p.Glu432Asp) single nucleotide variant Benign/Likely benign rs9972733 GRCh38 Chromosome 16, 84170124: 84170124
17 DNAAF1 NM_178452.5(DNAAF1): c.1196C> T (p.Pro399Leu) single nucleotide variant Uncertain significance rs745897840 GRCh37 Chromosome 16, 84203630: 84203630
18 DNAAF1 NM_178452.5(DNAAF1): c.1196C> T (p.Pro399Leu) single nucleotide variant Uncertain significance rs745897840 GRCh38 Chromosome 16, 84170024: 84170024

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

Sources for Ciliary Dyskinesia, Primary, 13

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