CILD7
MCID: CLR135
MIFTS: 21

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 58 76 30 6 74
Cild7 58 12 76
Ciliary Dyskinesia, Primary, 7, with or Without Situs Inversus 58 13
Primary Ciliary Dyskinesia 7 with or Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, 7 41
Primary Ciliary Dyskinesia 7 12
Immotile Cilia Syndrome 7 76
Ics7 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ciliary dyskinesia, primary, 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110605
OMIM 58 611884
MeSH 45 D007619
ICD10 34 Q34.8
MedGen 43 C2678473
UMLS 74 C2678473

Summaries for Ciliary Dyskinesia, Primary, 7

OMIM : 58 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)

MalaCards based summary : Ciliary Dyskinesia, Primary, 7, is also known as cild7. 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 : 76 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

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 7

Human phenotypes related to Ciliary Dyskinesia, Primary, 7:

33
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 33 occasional (7.5%) HP:0001696
2 recurrent respiratory infections 33 HP:0002205
3 bronchiectasis 33 HP:0002110
4 ciliary dyskinesia 33 HP:0012265

Symptoms via clinical synopsis from OMIM:

58
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

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 30 DNAH11

Anatomical Context for Ciliary Dyskinesia, Primary, 7

Publications for Ciliary Dyskinesia, Primary, 7

Articles related to Ciliary Dyskinesia, Primary, 7:

# Title Authors Year
1
Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. ( 22102620 )
2012
2
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. ( 18022865 )
2008

Variations for Ciliary Dyskinesia, Primary, 7

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

76
# 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

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

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH11 NM_001277115.1(DNAH11): c.8533C> T (p.Arg2845Ter) single nucleotide variant Pathogenic rs121908854 GRCh37 Chromosome 7, 21788220: 21788220
2 DNAH11 NM_001277115.1(DNAH11): c.8533C> T (p.Arg2845Ter) single nucleotide variant Pathogenic rs121908854 GRCh38 Chromosome 7, 21748602: 21748602
3 DNAH11 NM_001277115.1(DNAH11): c.12363C> G (p.Tyr4121Ter) single nucleotide variant Pathogenic rs121908855 GRCh37 Chromosome 7, 21920487: 21920487
4 DNAH11 NM_001277115.1(DNAH11): c.12363C> G (p.Tyr4121Ter) single nucleotide variant Pathogenic rs121908855 GRCh38 Chromosome 7, 21880869: 21880869
5 DNAH11 NM_001277115.1(DNAH11): c.13531_*36del57 deletion Pathogenic rs1554294478 GRCh37 Chromosome 7, 21940852: 21940908
6 DNAH11 NM_001277115.1(DNAH11): c.13531_*36del57 deletion Pathogenic rs1554294478 GRCh38 Chromosome 7, 21901234: 21901290
7 DNAH11 NM_001277115.1(DNAH11): c.8698C> T (p.Arg2900Ter) single nucleotide variant Pathogenic rs368260932 GRCh37 Chromosome 7, 21789320: 21789320
8 DNAH11 NM_001277115.1(DNAH11): c.8698C> T (p.Arg2900Ter) single nucleotide variant Pathogenic rs368260932 GRCh38 Chromosome 7, 21749702: 21749702
9 DNAH11 NM_001277115.1(DNAH11): c.7772C> T (p.Pro2591Leu) single nucleotide variant Uncertain significance rs387907258 GRCh37 Chromosome 7, 21778445: 21778445
10 DNAH11 NM_001277115.1(DNAH11): c.7772C> T (p.Pro2591Leu) single nucleotide variant Uncertain significance rs387907258 GRCh38 Chromosome 7, 21738827: 21738827
11 DNAH11 NM_001277115.1(DNAH11): c.6506C> A (p.Ser2169Ter) single nucleotide variant Pathogenic rs373946181 GRCh37 Chromosome 7, 21745115: 21745115
12 DNAH11 NM_001277115.1(DNAH11): c.6506C> A (p.Ser2169Ter) single nucleotide variant Pathogenic rs373946181 GRCh38 Chromosome 7, 21705497: 21705497
13 DNAH11 NM_001277115.1(DNAH11): c.4001T> C (p.Ile1334Thr) single nucleotide variant Uncertain significance rs72657309 GRCh37 Chromosome 7, 21654880: 21654880
14 DNAH11 NM_001277115.1(DNAH11): c.4001T> C (p.Ile1334Thr) single nucleotide variant Uncertain significance rs72657309 GRCh38 Chromosome 7, 21615262: 21615262
15 DNAH11 NM_001277115.1(DNAH11): c.7508_7509insTTG (p.Lys2504_Val2837delinsTer) insertion Pathogenic rs797045086 GRCh37 Chromosome 7, 21775325: 21775326
16 DNAH11 NM_001277115.1(DNAH11): c.7508_7509insTTG (p.Lys2504_Val2837delinsTer) insertion Pathogenic rs797045086 GRCh38 Chromosome 7, 21735707: 21735708
17 DNAH11 NM_001277115.1(DNAH11): c.8746C> T (p.Gln2916Ter) single nucleotide variant Pathogenic rs797045085 GRCh37 Chromosome 7, 21789368: 21789368
18 DNAH11 NM_001277115.1(DNAH11): c.8746C> T (p.Gln2916Ter) single nucleotide variant Pathogenic rs797045085 GRCh38 Chromosome 7, 21749750: 21749750
19 DNAH11 NM_001277115.1(DNAH11): c.9783G> C (p.Glu3261Asp) single nucleotide variant Uncertain significance rs201944089 GRCh37 Chromosome 7, 21827060: 21827060
20 DNAH11 NM_001277115.1(DNAH11): c.9783G> C (p.Glu3261Asp) single nucleotide variant Uncertain significance rs201944089 GRCh38 Chromosome 7, 21787442: 21787442
21 DNAH11 NM_001277115.1(DNAH11): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201943194 GRCh37 Chromosome 7, 21750214: 21750214
22 DNAH11 NM_001277115.1(DNAH11): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201943194 GRCh38 Chromosome 7, 21710596: 21710596
23 DNAH11 NM_001277115.1(DNAH11): c.5519C> T (p.Thr1840Ile) single nucleotide variant Uncertain significance rs374351807 GRCh38 Chromosome 7, 21683842: 21683842
24 DNAH11 NM_001277115.1(DNAH11): c.5519C> T (p.Thr1840Ile) single nucleotide variant Uncertain significance rs374351807 GRCh37 Chromosome 7, 21723460: 21723460
25 DNAH11 NM_001277115.1(DNAH11): c.11249T> G (p.Val3750Gly) single nucleotide variant Uncertain significance rs199864090 GRCh38 Chromosome 7, 21861899: 21861899
26 DNAH11 NM_001277115.1(DNAH11): c.11249T> G (p.Val3750Gly) single nucleotide variant Uncertain significance rs199864090 GRCh37 Chromosome 7, 21901517: 21901517
27 DNAH11 NM_001277115.1(DNAH11): c.4775G> T (p.Cys1592Phe) single nucleotide variant Uncertain significance rs72657327 GRCh37 Chromosome 7, 21677278: 21677278
28 DNAH11 NM_001277115.1(DNAH11): c.4775G> T (p.Cys1592Phe) single nucleotide variant Uncertain significance rs72657327 GRCh38 Chromosome 7, 21637660: 21637660
29 DNAH11 NM_001277115.1(DNAH11): c.2966G> A (p.Arg989Gln) single nucleotide variant Uncertain significance rs1178187217 GRCh37 Chromosome 7, 21639703: 21639703
30 DNAH11 NM_001277115.1(DNAH11): c.2966G> A (p.Arg989Gln) single nucleotide variant Uncertain significance rs1178187217 GRCh38 Chromosome 7, 21600085: 21600085
31 DNAH11 NM_001277115.1(DNAH11): c.6004C> T (p.Arg2002Ter) single nucleotide variant Pathogenic rs373844629 GRCh37 Chromosome 7, 21730462: 21730462
32 DNAH11 NM_001277115.1(DNAH11): c.6004C> T (p.Arg2002Ter) single nucleotide variant Pathogenic rs373844629 GRCh38 Chromosome 7, 21690844: 21690844
33 DNAH11 NM_001277115.1(DNAH11): c.12569G> A (p.Gly4190Asp) single nucleotide variant Uncertain significance rs374787771 GRCh38 Chromosome 7, 21892486: 21892486
34 DNAH11 NM_001277115.1(DNAH11): c.12569G> A (p.Gly4190Asp) single nucleotide variant Uncertain significance rs374787771 GRCh37 Chromosome 7, 21932104: 21932104
35 DNAH11 NM_001277115.1(DNAH11): c.4318G> C (p.Val1440Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 21619163: 21619163
36 DNAH11 NM_001277115.1(DNAH11): c.4318G> C (p.Val1440Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 21658781: 21658781
37 DNAH11 NM_001277115.1(DNAH11): c.3356G> A (p.Ser1119Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 21601110: 21601110
38 DNAH11 NM_001277115.1(DNAH11): c.3356G> A (p.Ser1119Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 21640728: 21640728

Expression for Ciliary Dyskinesia, Primary, 7

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Pathways for Ciliary Dyskinesia, Primary, 7

GO Terms for Ciliary Dyskinesia, Primary, 7

Sources for Ciliary Dyskinesia, Primary, 7

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