MCID: CLR059
MIFTS: 13

Ciliary Dyskinesia, Primary, 13 malady

Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases categories
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Summaries for Ciliary Dyskinesia, Primary, 13

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MalaCards based summary: Ciliary Dyskinesia, Primary, 13 and has symptoms including An important gene associated with Ciliary Dyskinesia, Primary, 13 is DNAAF1 (dynein, axonemal, assembly factor 1).

Description from OMIM:46 613193

Aliases & Classifications for Ciliary Dyskinesia, Primary, 13

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Ciliary Dyskinesia, Primary, 13, Aliases & Descriptions:

Name: Ciliary Dyskinesia, Primary, 13 46


Classifications:



Symptoms for Ciliary Dyskinesia, Primary, 13

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Symptoms by clinical synopsis from OMIM:

613193

Clinical features from OMIM:

613193

HPO human phenotypes related to Ciliary Dyskinesia, Primary, 13:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 sinusitis HP:0000246
3 recurrent otitis media HP:0000403
4 infertility HP:0000789
5 situs inversus totalis HP:0001696
6 bronchiectasis HP:0002110
7 recurrent bronchitis HP:0002837
8 absent outer dynein arms HP:0012256
9 absent inner dynein arms HP:0012257

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 13

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Drug clinical trials:

Search ClinicalTrials for Ciliary Dyskinesia, Primary, 13

Search NIH Clinical Center for Ciliary Dyskinesia, Primary, 13

Genetic Tests for Ciliary Dyskinesia, Primary, 13

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Anatomical Context for Ciliary Dyskinesia, Primary, 13

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Animal Models for Ciliary Dyskinesia, Primary, 13 or affiliated genes

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Publications for Ciliary Dyskinesia, Primary, 13

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Variations for Ciliary Dyskinesia, Primary, 13

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

64
id Symbol AA change Variation ID SNP ID
1DNAAF1p.Leu175ArgVAR_063098

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

6
id Gene Name Type Significance SNP ID Assembly Location
1DNAAF1NM_178452.4(DNAAF1): c.1349dupC (p.Pro451Alafs)duplicationPathogenicrs397515339GRCh37Chr 16, 84203783: 84203784
2DNAAF1NM_178452.4(DNAAF1): c.811C> T (p.Arg271Ter)single nucleotide variantPathogenicrs267607225GRCh37Chr 16, 84193349: 84193349
3DNAAF1NM_178452.4(DNAAF1): c.792C> A (p.Tyr264Ter)single nucleotide variantPathogenicrs267607226GRCh37Chr 16, 84193330: 84193330
4DNAAF1DNAAF1, 1-BP DUP, 508GinsertionPathogenic
5DNAAF1NM_178452.4(DNAAF1): c.524T> G (p.Leu175Arg)single nucleotide variantPathogenicrs267607227GRCh37Chr 16, 84188353: 84188353
6NG_021174.1: g.6841_12216deldeletionPathogenicGRCh37Chr 16, 84180705: 84186080

Expression for genes affiliated with Ciliary Dyskinesia, Primary, 13

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Expression patterns in normal tissues for genes affiliated with Ciliary Dyskinesia, Primary, 13

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

Pathways for genes affiliated with Ciliary Dyskinesia, Primary, 13

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Compounds for genes affiliated with Ciliary Dyskinesia, Primary, 13

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GO Terms for genes affiliated with Ciliary Dyskinesia, Primary, 13

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Cellular components related to Ciliary Dyskinesia, Primary, 13 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056349.1ZIC2, DNAAF1
2cytoplasmGO:0057378.8ZIC2, DNAAF1

Products for genes affiliated with Ciliary Dyskinesia, Primary, 13

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  • Antibodies
  • Proteins
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Sources for Ciliary Dyskinesia, Primary, 13

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet