Absent/shortened dynein arms

MedGen UID:: 867509
•Concept ID:: C4021891
•: Finding

HPO:	HP:0200106

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MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent/shortened dynein arms

Abnormality of the respiratory system
- Abnormal respiratory system physiology
  - Abnormal respiratory system morphology
    - Abnormal respiratory epithelium morphology
      - Abnormal respiratory motile cilium morphology
        Dynein arm defect of respiratory motile cilia
        Absent/shortened dynein arms
        Absent inner dynein arms
        Absent inner and outer dynein arms
        Absent outer dynein arms
        Absent/shortened outer dynein arms
        Shortened inner dynein arms
        Shortened outer dynein arms

Recent clinical studies

Diagnosis

New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.

Martinez G, Barbotin AL, Cazin C, Wehbe Z, Boursier A, Amiri-Yekta A, Daneshipour A, Hosseini SH, Rives N, Feraille A, Thierry-Mieg N, Bidart M, Satre V, Arnoult C, Ray PF, Kherraf ZE, Coutton C
Int J Mol Sci 2023 Jan 29;24(3) doi: 10.3390/ijms24032559. PMID: 36768883 Free PMC Article

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Therapy

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R
Am J Hum Genet 2011 May 13;88(5):599-607. Epub 2011 Apr 14 doi: 10.1016/j.ajhg.2011.03.018. PMID: 21496787 Free PMC Article

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Absent/shortened dynein arms

Term Hierarchy

Recent clinical studies

Diagnosis

Therapy

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