CILD27
MCID: CLR098
MIFTS: 25

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 57 74 29 6 72
Cild27 57 12 74
Primary Ciliary Dyskinesia 27 with or Without Situs Inversus 74
Ciliary Dyskinesia, Primary, 27, Without Situs Inversus 57
Primary Ciliary Dyskinesia 27 Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, 27 40
Primary Ciliary Dyskinesia 27 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or neonatal period


HPO:

32
ciliary dyskinesia, primary, 27:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110611
MeSH 44 D007619
ICD10 33 Q34.8
UMLS 72 C3809701

Summaries for Ciliary Dyskinesia, Primary, 27

OMIM : 57 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 : 74 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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 bronchiectasis 32 HP:0002110
3 chronic bronchitis 32 HP:0004469
4 rhinitis 32 HP:0012384
5 ciliary dyskinesia 32 HP:0012265
6 recurrent sinusitis 32 HP:0011108
7 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073

Symptoms via clinical synopsis from OMIM:

57
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. 8 71
24094744 2013
2
CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. 8 71
23991085 2013
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
6
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 27

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

6 (show all 40)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CCDC65 NM_033124.5(CCDC65): c.494del (p.Glu165fs) deletion Pathogenic rs1555174708 12:49310776-49310776 12:48916993-48916993
2 CCDC65 NM_033124.5(CCDC65): c.658G> T (p.Glu220Ter) single nucleotide variant Pathogenic 12:49312106-49312106 12:48918323-48918323
3 CCDC65 NM_033124.5(CCDC65): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic 12:49312166-49312166 12:48918383-48918383
4 CCDC65 NM_033124.5(CCDC65): c.875_876AT[1] (p.Ile293fs) short repeat Likely pathogenic rs863223325 12:49312537-49312538 12:48918754-48918755
5 CCDC65 NM_033124.5(CCDC65): c.994A> G (p.Thr332Ala) single nucleotide variant Uncertain significance 12:49312654-49312654 12:48918871-48918871
6 CCDC65 NM_033124.5(CCDC65): c.1441C> T (p.His481Tyr) single nucleotide variant Uncertain significance 12:49315212-49315212 12:48921429-48921429
7 CCDC65 NM_033124.5(CCDC65): c.209G> A (p.Arg70Gln) single nucleotide variant Uncertain significance 12:49298805-49298805 12:48905022-48905022
8 CCDC65 NM_033124.5(CCDC65): c.1196T> C (p.Ile399Thr) single nucleotide variant Uncertain significance 12:49314967-49314967 12:48921184-48921184
9 CCDC65 NM_033124.5(CCDC65): c.184A> G (p.Asn62Asp) single nucleotide variant Uncertain significance 12:49298780-49298780 12:48904997-48904997
10 CCDC65 NM_033124.5(CCDC65): c.322G> A (p.Glu108Lys) single nucleotide variant Uncertain significance 12:49308208-49308208 12:48914425-48914425
11 CCDC65 NM_033124.5(CCDC65): c.214G> T (p.Val72Phe) single nucleotide variant Uncertain significance rs1342625748 12:49298810-49298810 12:48905027-48905027
12 CCDC65 NM_033124.5(CCDC65): c.875A> G (p.Tyr292Cys) single nucleotide variant Uncertain significance rs1223874594 12:49312535-49312535 12:48918752-48918752
13 CCDC65 NM_033124.5(CCDC65): c.1298G> T (p.Arg433Leu) single nucleotide variant Uncertain significance rs766802543 12:49315069-49315069 12:48921286-48921286
14 CCDC65 NM_033124.5(CCDC65): c.803T> C (p.Leu268Pro) single nucleotide variant Uncertain significance rs150949692 12:49312251-49312251 12:48918468-48918468
15 CCDC65 NM_033124.5(CCDC65): c.144_164del (p.Lys49_Ala55del) deletion Uncertain significance rs1187237772 12:49298740-49298760 12:48904957-48904977
16 CCDC65 NM_033124.5(CCDC65): c.341C> T (p.Ala114Val) single nucleotide variant Uncertain significance rs201888145 12:49308227-49308227 12:48914444-48914444
17 CCDC65 NM_033124.5(CCDC65): c.548T> C (p.Ile183Thr) single nucleotide variant Uncertain significance rs151189508 12:49310830-49310830 12:48917047-48917047
18 CCDC65 NM_033124.5(CCDC65): c.347C> T (p.Ala116Val) single nucleotide variant Uncertain significance rs563337831 12:49308233-49308233 12:48914450-48914450
19 CCDC65 NM_033124.5(CCDC65): c.1280A> G (p.Asp427Gly) single nucleotide variant Uncertain significance rs866658813 12:49315051-49315051 12:48921268-48921268
20 CCDC65 NM_033124.5(CCDC65): c.73T> A (p.Leu25Met) single nucleotide variant Uncertain significance rs371110225 12:49298192-49298192 12:48904409-48904409
21 CCDC65 NM_033124.5(CCDC65): c.680A> G (p.Gln227Arg) single nucleotide variant Uncertain significance rs149640178 12:49312128-49312128 12:48918345-48918345
22 CCDC65 NM_033124.5(CCDC65): c.710C> T (p.Thr237Ile) single nucleotide variant Uncertain significance rs372541279 12:49312158-49312158 12:48918375-48918375
23 CCDC65 NM_033124.5(CCDC65): c.1370_1371del (p.Phe457fs) deletion Uncertain significance rs1060503167 12:49315141-49315142 12:48921358-48921359
24 CCDC65 NM_033124.5(CCDC65): c.325G> T (p.Ala109Ser) single nucleotide variant Uncertain significance rs781302965 12:49308211-49308211 12:48914428-48914428
25 CCDC65 NM_033124.5(CCDC65): c.773T> C (p.Ile258Thr) single nucleotide variant Uncertain significance rs199888057 12:49312221-49312221 12:48918438-48918438
26 CCDC65 NM_033124.5(CCDC65): c.1067T> C (p.Phe356Ser) single nucleotide variant Uncertain significance rs748848510 12:49314753-49314753 12:48920970-48920970
27 CCDC65 NM_033124.5(CCDC65): c.456G> A (p.Glu152=) single nucleotide variant Likely benign rs145100370 12:49308342-49308342 12:48914559-48914559
28 CCDC65 NM_033124.5(CCDC65): c.549A> G (p.Ile183Met) single nucleotide variant Likely benign rs140228766 12:49310831-49310831 12:48917048-48917048
29 CCDC65 NM_033124.5(CCDC65): c.203T> C (p.Val68Ala) single nucleotide variant Likely benign rs118060953 12:49298799-49298799 12:48905016-48905016
30 CCDC65 NM_033124.5(CCDC65): c.233A> T (p.His78Leu) single nucleotide variant Likely benign rs115782087 12:49298829-49298829 12:48905046-48905046
31 CCDC65 NM_033124.5(CCDC65): c.660A> G (p.Glu220=) single nucleotide variant Benign rs144573949 12:49312108-49312108 12:48918325-48918325
32 CCDC65 NM_033124.5(CCDC65): c.1134G> A (p.Gly378=) single nucleotide variant Benign rs116473422 12:49314820-49314820 12:48921037-48921037
33 CCDC65 NM_033124.5(CCDC65): c.375C> T (p.Asp125=) single nucleotide variant Benign rs143088014 12:49308261-49308261 12:48914478-48914478
34 CCDC65 NM_033124.5(CCDC65): c.1021G> T (p.Asp341Tyr) single nucleotide variant Benign rs117646559 12:49312681-49312681 12:48918898-48918898
35 CCDC65 NM_033124.5(CCDC65): c.1415G> A (p.Arg472His) single nucleotide variant Benign rs80052257 12:49315186-49315186 12:48921403-48921403
36 CCDC65 NM_033124.5(CCDC65): c.1429G> A (p.Gly477Ser) single nucleotide variant Benign rs117927481 12:49315200-49315200 12:48921417-48921417
37 CCDC65 NM_033124.5(CCDC65): c.1180-8A> C single nucleotide variant Benign rs192209412 12:49314943-49314943 12:48921160-48921160
38 CCDC65 NM_033124.5(CCDC65): c.505C> A (p.His169Asn) single nucleotide variant Benign rs79716342 12:49310787-49310787 12:48917004-48917004
39 CCDC65 NM_033124.5(CCDC65): c.880C> T (p.Arg294Cys) single nucleotide variant Benign rs78877829 12:49312540-49312540 12:48918757-48918757
40 CCDC65 NM_033124.5(CCDC65): c.1026+8_1026+9del deletion Benign 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

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