primary ciliary dyskinesia 1

Summary
Synonym
  • CILD1
  • primary ciliary dyskinesia 1 with or without situs inversus
Definition
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
Super Class
primary ciliary dyskinesia
External Links
Disease Ontology
DOID:0110594
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
1056 CEL carboxyl ester lipase
1109 AKR1C4 aldo-keto reductase family 1 member C4
3383 ICAM1 intercellular adhesion molecule 1
4153 MBL2 mannose binding lectin 2
4684 NCAM1 neural cell adhesion molecule 1
4907 NT5E 5'-nucleotidase ecto
6382 SDC1 syndecan 1
10998 SLC27A5 solute carrier family 27 member 5
50863 NTM neurotrimin
56623 INPP5E inositol polyphosphate-5-phosphatase E

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024