MCID: CLR130
MIFTS: 12

Ciliary Dyskinesia with Defective Radial Spokes

Categories: Rare diseases

Aliases & Classifications for Ciliary Dyskinesia with Defective Radial Spokes

MalaCards integrated aliases for Ciliary Dyskinesia with Defective Radial Spokes:

Name: Ciliary Dyskinesia with Defective Radial Spokes 58
Immotile Cilia Syndrome Due to Defective Radial Spokes 58 30
Immotile Cilia Syndrome, Due to Defective Radial Spokes 54
Cilia with Defective Radial Spokes 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ciliary dyskinesia with defective radial spokes:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 242670
MedGen 43 C0340035

Summaries for Ciliary Dyskinesia with Defective Radial Spokes

MalaCards based summary : Ciliary Dyskinesia with Defective Radial Spokes, is also known as immotile cilia syndrome due to defective radial spokes. Related phenotypes are sinusitis and nasal polyposis

Description from OMIM: 242670

Related Diseases for Ciliary Dyskinesia with Defective Radial Spokes

Symptoms & Phenotypes for Ciliary Dyskinesia with Defective Radial Spokes

Human phenotypes related to Ciliary Dyskinesia with Defective Radial Spokes:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sinusitis 33 HP:0000246
2 nasal polyposis 33 HP:0100582
3 chronic rhinitis 33 HP:0002257
4 ciliary dyskinesia 33 HP:0012265
5 immotile cilia 33 HP:0012263
6 nonmotile sperm 33 HP:0012208
7 absent respiratory ciliary axoneme radial spokes 33 HP:0012267

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
sinusitis
chronic rhinitis
nasal polyps

G U:
immotile sperm

Respiratory:
chronic respiratory disease
immotile cilia
absent mucociliary clearance

Lab:
lack of ciliary axoneme radial spokes by electron microscopy

Clinical features from OMIM:

242670

Drugs & Therapeutics for Ciliary Dyskinesia with Defective Radial Spokes

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia with Defective Radial Spokes

Genetic Tests for Ciliary Dyskinesia with Defective Radial Spokes

Genetic tests related to Ciliary Dyskinesia with Defective Radial Spokes:

# Genetic test Affiliating Genes
1 Immotile Cilia Syndrome Due to Defective Radial Spokes 30

Anatomical Context for Ciliary Dyskinesia with Defective Radial Spokes

Publications for Ciliary Dyskinesia with Defective Radial Spokes

Variations for Ciliary Dyskinesia with Defective Radial Spokes

Expression for Ciliary Dyskinesia with Defective Radial Spokes

Search GEO for disease gene expression data for Ciliary Dyskinesia with Defective Radial Spokes.

Pathways for Ciliary Dyskinesia with Defective Radial Spokes

GO Terms for Ciliary Dyskinesia with Defective Radial Spokes

Sources for Ciliary Dyskinesia with Defective Radial Spokes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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