CILD7
MCID: CLR135
MIFTS: 28

Ciliary Dyskinesia, Primary, 7 (CILD7)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 7

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 7:

Name: Ciliary Dyskinesia, Primary, 7 57 72 29 6 70
Cild7 57 12 72
Ciliary Dyskinesia, Primary, 7, with or Without Situs Inversus 57 13
Primary Ciliary Dyskinesia 7 12 15
Primary Ciliary Dyskinesia 7 with or Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, 7 39
Immotile Cilia Syndrome 7 72
Ics7 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
ciliary dyskinesia, primary, 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110605
OMIM® 57 611884
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C2678473
UMLS 70 C2678473

Summaries for Ciliary Dyskinesia, Primary, 7

OMIM® : 57 Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). (611884) (Updated 05-Apr-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 7, also known as cild7, is related to primary ciliary dyskinesia and ciliary dyskinesia, primary, 1. An important gene associated with Ciliary Dyskinesia, Primary, 7 is DNAH11 (Dynein Axonemal Heavy Chain 11). Related phenotypes are situs inversus totalis and recurrent respiratory infections

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has material basis in mutation in the DNAH11 gene on chromosome 7p21.

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 7: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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, 7

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3 Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7 Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9 Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17 Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19 Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27 Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32 Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34 Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37 Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Primary, 39 Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41 Ciliary Dyskinesia, Primary, 42
Ciliary Dyskinesia, Primary, 43 Ciliary Dyskinesia, Primary, 44
Ciliary Dyskinesia, Primary, 45 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 29.1 DNAH11 CDCA7L
2 ciliary dyskinesia, primary, 1 9.6 DNAH11 CDCA7L

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 7

Human phenotypes related to Ciliary Dyskinesia, Primary, 7:

31
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 occasional (7.5%) HP:0001696
2 recurrent respiratory infections 31 HP:0002205
3 bronchiectasis 31 HP:0002110
4 ciliary dyskinesia 31 HP:0012265

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
bronchiectasis

Respiratory:
recurrent respiratory infections due to impaired ciliary motility

Laboratory Abnormalities:
cilia show nonflexible and hyperkinetic beating of axonemes
cilia may also be static, with slow activity
axonemes show normal structure

Abdomen:
situs inversus (in some patients)

Genitourinary Internal Genitalia Male:
male fertility remains intact

Clinical features from OMIM®:

611884 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 7

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 7

Genetic Tests for Ciliary Dyskinesia, Primary, 7

Genetic tests related to Ciliary Dyskinesia, Primary, 7:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 7 29 DNAH11

Anatomical Context for Ciliary Dyskinesia, Primary, 7

Publications for Ciliary Dyskinesia, Primary, 7

Articles related to Ciliary Dyskinesia, Primary, 7:

(show all 12)
# Title Authors PMID Year
1
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. 6 57
22102620 2012
2
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. 57 6
18022865 2008
3
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. 6
26909801 2016
4
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 6
26139845 2015
5
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. 6
24450482 2014
6
Primary Ciliary Dyskinesia 6
20301301 2007
7
Lateralization defects and ciliary dyskinesia: lessons from algae. 57
12615011 2003
8
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. 57
12142464 2002
9
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. 57
9585585 1998
10
Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24) 57
8192752 1993
11
A human syndrome caused by immotile cilia. 57
1084576 1976
12
Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype. 61
33243178 2020

Variations for Ciliary Dyskinesia, Primary, 7

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 7:

6 (show top 50) (show all 135)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAH11 NM_001277115.2(DNAH11):c.785C>G (p.Ser262Ter) SNV Pathogenic 869374 GRCh37: 7:21599313-21599313
GRCh38: 7:21559695-21559695
2 DNAH11 NM_001277115.2(DNAH11):c.6452del (p.Glu2151fs) Deletion Pathogenic 869375 GRCh37: 7:21744230-21744230
GRCh38: 7:21704612-21704612
3 DNAH11 NM_001277115.2(DNAH11):c.10260C>G (p.Tyr3420Ter) SNV Pathogenic 869376 GRCh37: 7:21847595-21847595
GRCh38: 7:21807977-21807977
4 DNAH11 NM_001277115.2(DNAH11):c.11968-1G>C SNV Pathogenic 869377 GRCh37: 7:21912891-21912891
GRCh38: 7:21873273-21873273
5 DNAH11 NM_001277115.2(DNAH11):c.9523G>T (p.Glu3175Ter) SNV Pathogenic 869384 GRCh37: 7:21824084-21824084
GRCh38: 7:21784466-21784466
6 DNAH11 NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter) SNV Pathogenic 6474 rs121908854 GRCh37: 7:21788220-21788220
GRCh38: 7:21748602-21748602
7 DNAH11 NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter) SNV Pathogenic 6475 rs121908855 GRCh37: 7:21920487-21920487
GRCh38: 7:21880869-21880869
8 CDCA7L , DNAH11 NM_001277115.2(DNAH11):c.13531_*36del (p.Ala4511_Ter4517del) Deletion Pathogenic 6476 rs1554294478 GRCh37: 7:21940843-21940899
GRCh38: 7:21901225-21901281
9 DNAH11 NM_001277115.2(DNAH11):c.6506C>A (p.Ser2169Ter) SNV Pathogenic 36983 rs373946181 GRCh37: 7:21745115-21745115
GRCh38: 7:21705497-21705497
10 DNAH11 NM_001277115.2(DNAH11):c.9685C>T (p.Arg3229Trp) SNV Pathogenic 812690 GRCh37: 7:21826329-21826329
GRCh38: 7:21786711-21786711
11 DNAH11 NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Lys2504_Pro2505insTer) Insertion Pathogenic 208573 rs797045086 GRCh37: 7:21775324-21775325
GRCh38: 7:21735706-21735707
12 DNAH11 NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu) SNV Pathogenic 36982 rs387907258 GRCh37: 7:21778445-21778445
GRCh38: 7:21738827-21738827
13 DNAH11 NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter) SNV Pathogenic 208572 rs797045085 GRCh37: 7:21789368-21789368
GRCh38: 7:21749750-21749750
14 DNAH11 NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter) SNV Pathogenic 454655 rs775720394 GRCh37: 7:21938973-21938973
GRCh38: 7:21899355-21899355
15 DNAH11 NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter) SNV Pathogenic 454691 rs373844629 GRCh37: 7:21730462-21730462
GRCh38: 7:21690844-21690844
16 DNAH11 NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter) SNV Pathogenic 36981 rs368260932 GRCh37: 7:21789320-21789320
GRCh38: 7:21749702-21749702
17 DNAH11 NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter) SNV Pathogenic 289324 rs201943194 GRCh37: 7:21750214-21750214
GRCh38: 7:21710596-21710596
18 DNAH11 NM_001277115.2(DNAH11):c.2440G>T (p.Glu814Ter) SNV Pathogenic 997460 GRCh37: 7:21630968-21630968
GRCh38: 7:21591350-21591350
19 DNAH11 NM_001277115.2(DNAH11):c.2218C>T (p.Gln740Ter) SNV Pathogenic 997576 GRCh37: 7:21630584-21630584
GRCh38: 7:21590966-21590966
20 DNAH11 NM_001277115.2(DNAH11):c.3223C>T (p.Gln1075Ter) SNV Pathogenic 1030335 GRCh37: 7:21640516-21640516
GRCh38: 7:21600898-21600898
21 DNAH11 NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter) SNV Pathogenic 1033404 GRCh37: 7:21727066-21727066
GRCh38: 7:21687448-21687448
22 DNAH11 NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter) SNV Pathogenic/Likely pathogenic 974843 GRCh37: 7:21747335-21747335
GRCh38: 7:21707717-21707717
23 DNAH11 NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) SNV Likely pathogenic 359621 rs117830543 GRCh37: 7:21641058-21641058
GRCh38: 7:21601440-21601440
24 DNAH11 NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) SNV Likely pathogenic 807408 rs1190944498 GRCh37: 7:21726790-21726790
GRCh38: 7:21687172-21687172
25 DNAH11 NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) SNV Likely pathogenic 453287 rs1178187217 GRCh37: 7:21639703-21639703
GRCh38: 7:21600085-21600085
26 DNAH11 NM_001277115.2(DNAH11):c.7267-1G>T SNV Likely pathogenic 804400 rs759302236 GRCh37: 7:21765428-21765428
GRCh38: 7:21725810-21725810
27 DNAH11 NM_001277115.2(DNAH11):c.5699_5700del (p.Thr1900fs) Deletion Likely pathogenic 931945 GRCh37: 7:21726793-21726794
GRCh38: 7:21687175-21687176
28 CDCA7L , DNAH11 NM_018719.5(CDCA7L):c.*1077_*1097dup Duplication Likely pathogenic 827635 GRCh37: 7:21940842-21940843
GRCh38: 7:21901224-21901225
29 DNAH11 NM_001277115.2(DNAH11):c.6983+1G>A SNV Likely pathogenic 873476 GRCh37: 7:21751479-21751479
GRCh38: 7:21711861-21711861
30 DNAH11 NM_001277115.2(DNAH11):c.10691+2T>C SNV Conflicting interpretations of pathogenicity 265100 rs886039341 GRCh37: 7:21857959-21857959
GRCh38: 7:21818341-21818341
31 DNAH11 NM_001277115.2(DNAH11):c.5669C>G (p.Ala1890Gly) SNV Uncertain significance 454687 rs772740368 GRCh37: 7:21726764-21726764
GRCh38: 7:21687146-21687146
32 DNAH11 NM_001277115.2(DNAH11):c.3933A>G (p.Pro1311=) SNV Uncertain significance 238913 rs138071140 GRCh37: 7:21654812-21654812
GRCh38: 7:21615194-21615194
33 DNAH11 NM_001277115.2(DNAH11):c.5094+4A>G SNV Uncertain significance 580930 rs769984539 GRCh37: 7:21695603-21695603
GRCh38: 7:21655985-21655985
34 DNAH11 NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu) SNV Uncertain significance 570039 rs753773546 GRCh37: 7:21658781-21658781
GRCh38: 7:21619163-21619163
35 DNAH11 NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) SNV Uncertain significance 238946 rs201944089 GRCh37: 7:21827060-21827060
GRCh38: 7:21787442-21787442
36 DNAH11 NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly) SNV Uncertain significance 359677 rs199864090 GRCh37: 7:21901517-21901517
GRCh38: 7:21861899-21861899
37 DNAH11 NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=) SNV Uncertain significance 695239 rs367806628 GRCh37: 7:21784148-21784148
GRCh38: 7:21744530-21744530
38 DNAH11 NM_001277115.2(DNAH11):c.10953C>T (p.Asp3651=) SNV Uncertain significance 698463 rs766635238 GRCh37: 7:21892141-21892141
GRCh38: 7:21852523-21852523
39 DNAH11 NM_001277115.2(DNAH11):c.395A>G (p.Lys132Arg) SNV Uncertain significance 911970 GRCh37: 7:21584667-21584667
GRCh38: 7:21545049-21545049
40 CDCA7L , DNAH11 NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=) SNV Uncertain significance 257873 rs147454485 GRCh37: 7:21940869-21940869
GRCh38: 7:21901251-21901251
41 DNAH11 NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys) SNV Uncertain significance 410865 rs550602612 GRCh37: 7:21603812-21603812
GRCh38: 7:21564194-21564194
42 DNAH11 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) SNV Uncertain significance 198347 rs370932895 GRCh37: 7:21856224-21856224
GRCh38: 7:21816606-21816606
43 DNAH11 NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys) SNV Uncertain significance 834254 GRCh37: 7:21784131-21784131
GRCh38: 7:21744513-21744513
44 DNAH11 NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=) SNV Uncertain significance 525215 rs369146775 GRCh37: 7:21627819-21627819
GRCh38: 7:21588201-21588201
45 DNAH11 NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) SNV Uncertain significance 163104 rs727502967 GRCh37: 7:21678618-21678618
GRCh38: 7:21639000-21639000
46 DNAH11 NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe) SNV Uncertain significance 410860 rs72657327 GRCh37: 7:21677278-21677278
GRCh38: 7:21637660-21637660
47 DNAH11 NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) SNV Uncertain significance 220048 rs142585703 GRCh37: 7:21932167-21932167
GRCh38: 7:21892549-21892549
48 DNAH11 NM_001277115.2(DNAH11):c.1133A>C (p.Tyr378Ser) SNV Uncertain significance 410843 rs375636554 GRCh37: 7:21603954-21603954
GRCh38: 7:21564336-21564336
49 DNAH11 NM_001277115.2(DNAH11):c.6383G>A (p.Arg2128Gln) SNV Uncertain significance 579116 rs544234928 GRCh37: 7:21744161-21744161
GRCh38: 7:21704543-21704543
50 DNAH11 NM_001277115.2(DNAH11):c.3220G>A (p.Glu1074Lys) SNV Uncertain significance 842081 GRCh37: 7:21640513-21640513
GRCh38: 7:21600895-21600895

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 7:

72
# Symbol AA change Variation ID SNP ID
1 DNAH11 p.Glu117Val VAR_072472 rs72655968
2 DNAH11 p.Leu2383Pro VAR_072473 rs72657353
3 DNAH11 p.Leu4327Ser VAR_072474 rs72658826

Expression for Ciliary Dyskinesia, Primary, 7

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 7.

Pathways for Ciliary Dyskinesia, Primary, 7

GO Terms for Ciliary Dyskinesia, Primary, 7

Sources for Ciliary Dyskinesia, Primary, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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