MCID: CLR130
MIFTS: 13

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 57
Immotile Cilia Syndrome Due to Defective Radial Spokes 57 29
Immotile Cilia Syndrome, Due to Defective Radial Spokes 53
Cilia with Defective Radial Spokes 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ciliary dyskinesia with defective radial spokes:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 242670
MedGen 42 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ciliary Dyskinesia with Defective Radial Spokes:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sinusitis 32 HP:0000246
2 nasal polyposis 32 HP:0100582
3 chronic rhinitis 32 HP:0002257
4 ciliary dyskinesia 32 HP:0012265
5 immotile cilia 32 HP:0012263
6 nonmotile sperm 32 HP:0012208
7 absent respiratory ciliary axoneme radial spokes 32 HP:0012267

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 29

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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