MCID: CLR098
MIFTS: 20

Ciliary Dyskinesia, Primary, 27

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 27

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 27:

Name: Ciliary Dyskinesia, Primary, 27 57 75 29 6 73
Cild27 57 12 75
Primary Ciliary Dyskinesia 27 with or Without Situs Inversus 75
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:

OMIM 57 615504
Disease Ontology 12 DOID:0110611
ICD10 33 Q34.8
MeSH 44 D007619
UMLS 73 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sinusitis, recurrent

Head And Neck Nose:
rhinitis, recurrent

Respiratory Airways:
chronic bronchitis

Head And Neck Ears:
otitis media, recurrent

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

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


Clinical features from OMIM:

615504

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 recurrent sinusitis 32 HP:0011108
5 ciliary dyskinesia 32 HP:0012265
6 rhinitis 32 HP:0012384
7 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073

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

Variations for Ciliary Dyskinesia, Primary, 27

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

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC65 NM_033124.4(CCDC65): c.877_878delAT (p.Ile293Profs) deletion Likely pathogenic rs863223325 GRCh37 Chromosome 12, 49312537: 49312538
2 CCDC65 NM_033124.4(CCDC65): c.877_878delAT (p.Ile293Profs) deletion Likely pathogenic rs863223325 GRCh38 Chromosome 12, 48918754: 48918755
3 CCDC65 NM_033124.4(CCDC65): c.1026+8_1026+9delAG deletion Benign rs146370108 GRCh38 Chromosome 12, 48918911: 48918912
4 CCDC65 NM_033124.4(CCDC65): c.1026+8_1026+9delAG deletion Benign rs146370108 GRCh37 Chromosome 12, 49312694: 49312695
5 CCDC65 NM_033124.4(CCDC65): c.341C> T (p.Ala114Val) single nucleotide variant Uncertain significance rs201888145 GRCh37 Chromosome 12, 49308227: 49308227
6 CCDC65 NM_033124.4(CCDC65): c.341C> T (p.Ala114Val) single nucleotide variant Uncertain significance rs201888145 GRCh38 Chromosome 12, 48914444: 48914444
7 CCDC65 NM_033124.4(CCDC65): c.548T> C (p.Ile183Thr) single nucleotide variant Uncertain significance rs151189508 GRCh37 Chromosome 12, 49310830: 49310830
8 CCDC65 NM_033124.4(CCDC65): c.548T> C (p.Ile183Thr) single nucleotide variant Uncertain significance rs151189508 GRCh38 Chromosome 12, 48917047: 48917047
9 CCDC65 NM_033124.4(CCDC65): c.1180-8A> C single nucleotide variant Benign rs192209412 GRCh37 Chromosome 12, 49314943: 49314943
10 CCDC65 NM_033124.4(CCDC65): c.1180-8A> C single nucleotide variant Benign rs192209412 GRCh38 Chromosome 12, 48921160: 48921160
11 CCDC65 NM_033124.4(CCDC65): c.505C> A (p.His169Asn) single nucleotide variant Benign rs79716342 GRCh38 Chromosome 12, 48917004: 48917004
12 CCDC65 NM_033124.4(CCDC65): c.505C> A (p.His169Asn) single nucleotide variant Benign rs79716342 GRCh37 Chromosome 12, 49310787: 49310787
13 CCDC65 NM_033124.4(CCDC65): c.880C> T (p.Arg294Cys) single nucleotide variant Benign rs78877829 GRCh37 Chromosome 12, 49312540: 49312540
14 CCDC65 NM_033124.4(CCDC65): c.880C> T (p.Arg294Cys) single nucleotide variant Benign rs78877829 GRCh38 Chromosome 12, 48918757: 48918757
15 CCDC65 NM_033124.4(CCDC65): c.680A> G (p.Gln227Arg) single nucleotide variant Uncertain significance rs149640178 GRCh38 Chromosome 12, 48918345: 48918345
16 CCDC65 NM_033124.4(CCDC65): c.680A> G (p.Gln227Arg) single nucleotide variant Uncertain significance rs149640178 GRCh37 Chromosome 12, 49312128: 49312128
17 CCDC65 NM_033124.4(CCDC65): c.710C> T (p.Thr237Ile) single nucleotide variant Uncertain significance rs372541279 GRCh37 Chromosome 12, 49312158: 49312158
18 CCDC65 NM_033124.4(CCDC65): c.710C> T (p.Thr237Ile) single nucleotide variant Uncertain significance rs372541279 GRCh38 Chromosome 12, 48918375: 48918375
19 CCDC65 NM_033124.4(CCDC65): c.1370_1371delTT (p.Phe457Tyrfs) deletion Uncertain significance rs1060503167 GRCh38 Chromosome 12, 48921358: 48921359
20 CCDC65 NM_033124.4(CCDC65): c.1370_1371delTT (p.Phe457Tyrfs) deletion Uncertain significance rs1060503167 GRCh37 Chromosome 12, 49315141: 49315142
21 CCDC65 NM_033124.4(CCDC65): c.1415G> A (p.Arg472His) single nucleotide variant Benign rs80052257 GRCh37 Chromosome 12, 49315186: 49315186
22 CCDC65 NM_033124.4(CCDC65): c.1415G> A (p.Arg472His) single nucleotide variant Benign rs80052257 GRCh38 Chromosome 12, 48921403: 48921403
23 CCDC65 NM_033124.4(CCDC65): c.1429G> A (p.Gly477Ser) single nucleotide variant Benign rs117927481 GRCh37 Chromosome 12, 49315200: 49315200
24 CCDC65 NM_033124.4(CCDC65): c.1429G> A (p.Gly477Ser) single nucleotide variant Benign rs117927481 GRCh38 Chromosome 12, 48921417: 48921417
25 CCDC65 NM_033124.4(CCDC65): c.233A> T (p.His78Leu) single nucleotide variant Likely benign rs115782087 GRCh37 Chromosome 12, 49298829: 49298829
26 CCDC65 NM_033124.4(CCDC65): c.233A> T (p.His78Leu) single nucleotide variant Likely benign rs115782087 GRCh38 Chromosome 12, 48905046: 48905046
27 CCDC65 NM_033124.4(CCDC65): c.325G> T (p.Ala109Ser) single nucleotide variant Uncertain significance rs781302965 GRCh37 Chromosome 12, 49308211: 49308211
28 CCDC65 NM_033124.4(CCDC65): c.325G> T (p.Ala109Ser) single nucleotide variant Uncertain significance rs781302965 GRCh38 Chromosome 12, 48914428: 48914428
29 CCDC65 NM_033124.4(CCDC65): c.456G> A (p.Glu152=) single nucleotide variant Likely benign rs145100370 GRCh37 Chromosome 12, 49308342: 49308342
30 CCDC65 NM_033124.4(CCDC65): c.456G> A (p.Glu152=) single nucleotide variant Likely benign rs145100370 GRCh38 Chromosome 12, 48914559: 48914559
31 CCDC65 NM_033124.4(CCDC65): c.773T> C (p.Ile258Thr) single nucleotide variant Uncertain significance rs199888057 GRCh37 Chromosome 12, 49312221: 49312221
32 CCDC65 NM_033124.4(CCDC65): c.773T> C (p.Ile258Thr) single nucleotide variant Uncertain significance rs199888057 GRCh38 Chromosome 12, 48918438: 48918438
33 CCDC65 NM_033124.4(CCDC65): c.1067T> C (p.Phe356Ser) single nucleotide variant Uncertain significance rs748848510 GRCh37 Chromosome 12, 49314753: 49314753
34 CCDC65 NM_033124.4(CCDC65): c.1067T> C (p.Phe356Ser) single nucleotide variant Uncertain significance rs748848510 GRCh38 Chromosome 12, 48920970: 48920970
35 CCDC65 NM_033124.4(CCDC65): c.1021G> T (p.Asp341Tyr) single nucleotide variant Benign rs117646559 GRCh37 Chromosome 12, 49312681: 49312681
36 CCDC65 NM_033124.4(CCDC65): c.1021G> T (p.Asp341Tyr) single nucleotide variant Benign rs117646559 GRCh38 Chromosome 12, 48918898: 48918898
37 CCDC65 NM_033124.4(CCDC65): c.1280A> G (p.Asp427Gly) single nucleotide variant Uncertain significance rs866658813 GRCh37 Chromosome 12, 49315051: 49315051
38 CCDC65 NM_033124.4(CCDC65): c.1280A> G (p.Asp427Gly) single nucleotide variant Uncertain significance rs866658813 GRCh38 Chromosome 12, 48921268: 48921268
39 CCDC65 NM_033124.4(CCDC65): c.73T> A (p.Leu25Met) single nucleotide variant Uncertain significance rs371110225 GRCh37 Chromosome 12, 49298192: 49298192
40 CCDC65 NM_033124.4(CCDC65): c.73T> A (p.Leu25Met) single nucleotide variant Uncertain significance rs371110225 GRCh38 Chromosome 12, 48904409: 48904409
41 CCDC65 NM_033124.4(CCDC65): c.203T> C (p.Val68Ala) single nucleotide variant Likely benign rs118060953 GRCh37 Chromosome 12, 49298799: 49298799
42 CCDC65 NM_033124.4(CCDC65): c.203T> C (p.Val68Ala) single nucleotide variant Likely benign rs118060953 GRCh38 Chromosome 12, 48905016: 48905016
43 CCDC65 NM_033124.4(CCDC65): c.375C> T (p.Asp125=) single nucleotide variant Benign rs143088014 GRCh37 Chromosome 12, 49308261: 49308261
44 CCDC65 NM_033124.4(CCDC65): c.375C> T (p.Asp125=) single nucleotide variant Benign rs143088014 GRCh38 Chromosome 12, 48914478: 48914478
45 CCDC65 NM_033124.4(CCDC65): c.549A> G (p.Ile183Met) single nucleotide variant Likely benign rs140228766 GRCh37 Chromosome 12, 49310831: 49310831
46 CCDC65 NM_033124.4(CCDC65): c.549A> G (p.Ile183Met) single nucleotide variant Likely benign rs140228766 GRCh38 Chromosome 12, 48917048: 48917048
47 CCDC65 NM_033124.4(CCDC65): c.347C> T (p.Ala116Val) single nucleotide variant Uncertain significance rs563337831 GRCh37 Chromosome 12, 49308233: 49308233
48 CCDC65 NM_033124.4(CCDC65): c.347C> T (p.Ala116Val) single nucleotide variant Uncertain significance rs563337831 GRCh38 Chromosome 12, 48914450: 48914450
49 CCDC65 NM_033124.4(CCDC65): c.494delA (p.Glu165Glyfs) deletion Pathogenic GRCh38 Chromosome 12, 48916993: 48916993
50 CCDC65 NM_033124.4(CCDC65): c.494delA (p.Glu165Glyfs) deletion Pathogenic GRCh37 Chromosome 12, 49310776: 49310776

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 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
Content
Loading form....