MCID: CLR059
MIFTS: 15

Ciliary Dyskinesia, Primary, 13 malady

Genetic diseases, Rare diseases, Respiratory diseases categories

Summaries for Ciliary Dyskinesia, Primary, 13

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

Description from OMIM:45 613193

Aliases & Classifications for Ciliary Dyskinesia, Primary, 13

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Ciliary Dyskinesia, Primary, 13, Aliases & Descriptions:

Name: Ciliary Dyskinesia, Primary, 13 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases


External Ids:

OMIM45 613193

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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Genetic tests related to Ciliary Dyskinesia, Primary, 13:

id Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 1322

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:

62
id Symbol AA change Variation ID SNP ID
1DNAAF1p.Leu175ArgVAR_063098

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

6
id Gene Variation 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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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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Products for genes affiliated with Ciliary Dyskinesia, Primary, 13

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ciliary Dyskinesia, Primary, 13

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet