CILD27
MCID: CLR098
MIFTS: 24

Ciliary Dyskinesia, Primary, 27 (CILD27)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 27

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 27:

Name: Ciliary Dyskinesia, Primary, 27 56 73 29 6 71
Cild27 56 12 73
Primary Ciliary Dyskinesia 27 with or Without Situs Inversus 73
Ciliary Dyskinesia, Primary, 27, Without Situs Inversus 56
Primary Ciliary Dyskinesia 27 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, 27 39
Primary Ciliary Dyskinesia 27 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or neonatal period


HPO:

31
ciliary dyskinesia, primary, 27:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110611
OMIM 56 615504
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
UMLS 71 C3809701

Summaries for Ciliary Dyskinesia, Primary, 27

OMIM : 56 Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms and nexin links. Situs inversus has not been reported in these patients (summary by Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615504)

MalaCards based summary : Ciliary Dyskinesia, Primary, 27, is also known as cild27. An important gene associated with Ciliary Dyskinesia, Primary, 27 is CCDC65 (Coiled-Coil Domain Containing 65). Related phenotypes are recurrent otitis media and bronchiectasis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has material basis in homozygous mutation in the CCDC65 gene on chromosome 12q13.

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 27: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

Related Diseases for Ciliary Dyskinesia, Primary, 27

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 27

Human phenotypes related to Ciliary Dyskinesia, Primary, 27:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 HP:0000403
2 bronchiectasis 31 HP:0002110
3 chronic bronchitis 31 HP:0004469
4 rhinitis 31 HP:0012384
5 ciliary dyskinesia 31 HP:0012265
6 recurrent sinusitis 31 HP:0011108
7 respiratory insufficiency due to defective ciliary clearance 31 HP:0200073

Symptoms via clinical synopsis from OMIM:

56
Respiratory Airways:
chronic bronchitis

Head And Neck Head:
sinusitis, recurrent

Laboratory Abnormalities:
decreased nasal nitric oxide
electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links
microtubule disorganization in some cilia
dyskinetic ciliary motility

Respiratory:
respiratory insufficiency due to defective ciliary clearance
respiratory infections, recurrent

Head And Neck Ears:
otitis media, recurrent

Head And Neck Nose:
rhinitis, recurrent

Clinical features from OMIM:

615504

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 27

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 27

Genetic Tests for Ciliary Dyskinesia, Primary, 27

Genetic tests related to Ciliary Dyskinesia, Primary, 27:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 27 29 CCDC65

Anatomical Context for Ciliary Dyskinesia, Primary, 27

Publications for Ciliary Dyskinesia, Primary, 27

Articles related to Ciliary Dyskinesia, Primary, 27:

# Title Authors PMID Year
1
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 56 6
24094744 2013
2
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. 56 6
23991085 2013
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
6
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 27

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 27:

6 (show all 30) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC65 NM_033124.5(CCDC65):c.494del (p.Glu165fs)deletion Pathogenic 474640 rs1555174708 12:49310776-49310776 12:48916993-48916993
2 CCDC65 NM_033124.5(CCDC65):c.658G>T (p.Glu220Ter)SNV Pathogenic 649817 12:49312106-49312106 12:48918323-48918323
3 CCDC65 NM_033124.5(CCDC65):c.718C>T (p.Arg240Ter)SNV Pathogenic 644753 12:49312166-49312166 12:48918383-48918383
4 CCDC65 NM_033124.5(CCDC65):c.875_876AT[1] (p.Ile293fs)short repeat Likely pathogenic 88685 rs863223325 12:49312534-49312535 12:48918751-48918752
5 CCDC65 NM_033124.5(CCDC65):c.341C>T (p.Ala114Val)SNV Uncertain significance 241745 rs201888145 12:49308227-49308227 12:48914444-48914444
6 CCDC65 NM_033124.5(CCDC65):c.548T>C (p.Ile183Thr)SNV Uncertain significance 241746 rs151189508 12:49310830-49310830 12:48917047-48917047
7 CCDC65 NM_033124.5(CCDC65):c.994A>G (p.Thr332Ala)SNV Uncertain significance 643075 12:49312654-49312654 12:48918871-48918871
8 CCDC65 NM_033124.5(CCDC65):c.680A>G (p.Gln227Arg)SNV Uncertain significance 411134 rs149640178 12:49312128-49312128 12:48918345-48918345
9 CCDC65 NM_033124.5(CCDC65):c.710C>T (p.Thr237Ile)SNV Uncertain significance 411130 rs372541279 12:49312158-49312158 12:48918375-48918375
10 CCDC65 NM_033124.5(CCDC65):c.1370_1371del (p.Phe457fs)deletion Uncertain significance 411133 rs1060503167 12:49315140-49315141 12:48921357-48921358
11 CCDC65 NM_033124.5(CCDC65):c.325G>T (p.Ala109Ser)SNV Uncertain significance 411132 rs781302965 12:49308211-49308211 12:48914428-48914428
12 CCDC65 NM_033124.5(CCDC65):c.773T>C (p.Ile258Thr)SNV Uncertain significance 411129 rs199888057 12:49312221-49312221 12:48918438-48918438
13 CCDC65 NM_033124.5(CCDC65):c.1067T>C (p.Phe356Ser)SNV Uncertain significance 411128 rs748848510 12:49314753-49314753 12:48920970-48920970
14 CCDC65 NM_033124.5(CCDC65):c.1280A>G (p.Asp427Gly)SNV Uncertain significance 411131 rs866658813 12:49315051-49315051 12:48921268-48921268
15 CCDC65 NM_033124.5(CCDC65):c.73T>A (p.Leu25Met)SNV Uncertain significance 474643 rs371110225 12:49298192-49298192 12:48904409-48904409
16 CCDC65 NM_033124.5(CCDC65):c.347C>T (p.Ala116Val)SNV Uncertain significance 474638 rs563337831 12:49308233-49308233 12:48914450-48914450
17 CCDC65 NM_033124.5(CCDC65):c.214G>T (p.Val72Phe)SNV Uncertain significance 474637 rs1342625748 12:49298810-49298810 12:48905027-48905027
18 CCDC65 NM_033124.5(CCDC65):c.875A>G (p.Tyr292Cys)SNV Uncertain significance 474644 rs1223874594 12:49312535-49312535 12:48918752-48918752
19 CCDC65 NM_033124.5(CCDC65):c.1298G>T (p.Arg433Leu)SNV Uncertain significance 474635 rs766802543 12:49315069-49315069 12:48921286-48921286
20 CCDC65 NM_033124.5(CCDC65):c.803T>C (p.Leu268Pro)SNV Uncertain significance 541529 rs150949692 12:49312251-49312251 12:48918468-48918468
21 CCDC65 NM_033124.5(CCDC65):c.144_164del (p.Lys49_Ala55del)deletion Uncertain significance 541528 rs1187237772 12:49298738-49298758 12:48904955-48904975
22 CCDC65 NM_033124.5(CCDC65):c.1441C>T (p.His481Tyr)SNV Uncertain significance 581425 rs1452755503 12:49315212-49315212 12:48921429-48921429
23 CCDC65 NM_033124.5(CCDC65):c.209G>A (p.Arg70Gln)SNV Uncertain significance 568740 rs772291948 12:49298805-49298805 12:48905022-48905022
24 CCDC65 NM_033124.5(CCDC65):c.1196T>C (p.Ile399Thr)SNV Uncertain significance 575527 rs890906368 12:49314967-49314967 12:48921184-48921184
25 CCDC65 NM_033124.5(CCDC65):c.184A>G (p.Asn62Asp)SNV Uncertain significance 648266 12:49298780-49298780 12:48904997-48904997
26 CCDC65 NM_033124.5(CCDC65):c.322G>A (p.Glu108Lys)SNV Uncertain significance 661614 12:49308208-49308208 12:48914425-48914425
27 CCDC65 NM_033124.5(CCDC65):c.660A>G (p.Glu220=)SNV Benign 474642 rs144573949 12:49312108-49312108 12:48918325-48918325
28 CCDC65 NM_033124.5(CCDC65):c.505C>A (p.His169Asn)SNV Benign 262220 rs79716342 12:49310787-49310787 12:48917004-48917004
29 CCDC65 NM_033124.5(CCDC65):c.880C>T (p.Arg294Cys)SNV Benign 262221 rs78877829 12:49312540-49312540 12:48918757-48918757
30 CCDC65 NM_033124.5(CCDC65):c.1026+8_1026+9deldeletion Benign 220953 rs146370108 12:49312694-49312695 12:48918911-48918912

Expression for Ciliary Dyskinesia, Primary, 27

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 27.

Pathways for Ciliary Dyskinesia, Primary, 27

GO Terms for Ciliary Dyskinesia, Primary, 27

Sources for Ciliary Dyskinesia, Primary, 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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