MCID: CLR026
MIFTS: 12

Ciliary Dyskinesia with Excessively Long Cilia

Categories: Rare diseases

Aliases & Classifications for Ciliary Dyskinesia with Excessively Long Cilia

MalaCards integrated aliases for Ciliary Dyskinesia with Excessively Long Cilia:

Name: Ciliary Dyskinesia with Excessively Long Cilia 58 54
Immotile Cilia Syndrome Due to Excessively Long Cilia 58 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ciliary dyskinesia with excessively long cilia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 242680
MedGen 43 C0340036

Summaries for Ciliary Dyskinesia with Excessively Long Cilia

MalaCards based summary : Ciliary Dyskinesia with Excessively Long Cilia, is also known as immotile cilia syndrome due to excessively long cilia. Affiliated tissues include lung, and related phenotypes are sinusitis and nasal polyposis

Description from OMIM: 242680

Related Diseases for Ciliary Dyskinesia with Excessively Long Cilia

Symptoms & Phenotypes for Ciliary Dyskinesia with Excessively Long Cilia

Human phenotypes related to Ciliary Dyskinesia with Excessively Long Cilia:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sinusitis 33 HP:0000246
2 nasal polyposis 33 HP:0100582
3 chronic rhinitis 33 HP:0002257
4 abnormal respiratory motile cilium morphology 33 HP:0005938
5 ciliary dyskinesia 33 HP:0012265
6 obstructive lung disease 33 HP:0006536
7 recurrent bronchitis 33 HP:0002837
8 immotile cilia 33 HP:0012263

Symptoms via clinical synopsis from OMIM:

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

Lab:
nasal cilia abnormally long but with normal diameter

Pulmonary:
obstructive lung disease
bronchitis
immotile cilia
decreased mucociliary clearance

Clinical features from OMIM:

242680

Drugs & Therapeutics for Ciliary Dyskinesia with Excessively Long Cilia

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia with Excessively Long Cilia

Genetic Tests for Ciliary Dyskinesia with Excessively Long Cilia

Anatomical Context for Ciliary Dyskinesia with Excessively Long Cilia

MalaCards organs/tissues related to Ciliary Dyskinesia with Excessively Long Cilia:

42
Lung

Publications for Ciliary Dyskinesia with Excessively Long Cilia

Variations for Ciliary Dyskinesia with Excessively Long Cilia

Expression for Ciliary Dyskinesia with Excessively Long Cilia

Search GEO for disease gene expression data for Ciliary Dyskinesia with Excessively Long Cilia.

Pathways for Ciliary Dyskinesia with Excessively Long Cilia

GO Terms for Ciliary Dyskinesia with Excessively Long Cilia

Sources for Ciliary Dyskinesia with Excessively Long Cilia

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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