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 57 53
Immotile Cilia Syndrome Due to Excessively Long Cilia 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ciliary dyskinesia with excessively long cilia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 242680
MedGen 42 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

Symptoms via clinical synopsis from OMIM:

57
H E E N T:
sinusitis
chronic rhinitis
nasal polyps

Lab:
nasal cilia abnormally long but with normal diameter

Pulmonary:
bronchitis
obstructive lung disease
immotile cilia
decreased mucociliary clearance


Clinical features from OMIM:

242680

Human phenotypes related to Ciliary Dyskinesia with Excessively Long Cilia:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sinusitis 32 HP:0000246
2 nasal polyposis 32 HP:0100582
3 chronic rhinitis 32 HP:0002257
4 abnormal respiratory motile cilium morphology 32 HP:0005938
5 ciliary dyskinesia 32 HP:0012265
6 recurrent bronchitis 32 HP:0002837
7 obstructive lung disease 32 HP:0006536
8 immotile cilia 32 HP:0012263

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:

41
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 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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