CILD7
MCID: CLR135
MIFTS: 20

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 75 29 6 73
Cild7 57 12 75
Ciliary Dyskinesia, Primary, 7, with or Without Situs Inversus 57 13
Primary Ciliary Dyskinesia 7 with or Without Situs Inversus 12
Dyskinesia, Ciliary, Primary, 7 40
Primary Ciliary Dyskinesia 7 12
Immotile Cilia Syndrome 7 75
Ics7 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ciliary dyskinesia, primary, 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611884
Disease Ontology 12 DOID:0110605
ICD10 33 Q34.8
MedGen 42 C2678473
MeSH 44 D007619
UMLS 73 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)

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 recurrent respiratory infections and situs inversus totalis

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ciliary Dyskinesia, Primary, 7:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 situs inversus totalis 32 occasional (7.5%) HP:0001696
3 bronchiectasis 32 HP:0002110
4 ciliary dyskinesia 32 HP:0012265

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

Variations for Ciliary Dyskinesia, Primary, 7

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

75
# 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 30)
# 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 GRCh37 Chromosome 7, 21940852: 21940908
6 DNAH11 NM_001277115.1(DNAH11): c.13531_*36del57 deletion Pathogenic 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.9706C> T (p.Arg3236Ter) single nucleotide variant Pathogenic rs753101269 GRCh37 Chromosome 7, 21826350: 21826350
20 DNAH11 NM_001277115.1(DNAH11): c.9706C> T (p.Arg3236Ter) single nucleotide variant Pathogenic rs753101269 GRCh38 Chromosome 7, 21786732: 21786732
21 DNAH11 NM_001277115.1(DNAH11): c.10221_10222delCT (p.Cys3408Trpfs) deletion Pathogenic rs886042735 GRCh37 Chromosome 7, 21847556: 21847557
22 DNAH11 NM_001277115.1(DNAH11): c.10221_10222delCT (p.Cys3408Trpfs) deletion Pathogenic rs886042735 GRCh38 Chromosome 7, 21807938: 21807939
23 DNAH11 NM_001277115.1(DNAH11): c.4818-2A> G single nucleotide variant Pathogenic rs886044152 GRCh37 Chromosome 7, 21678555: 21678555
24 DNAH11 NM_001277115.1(DNAH11): c.4818-2A> G single nucleotide variant Pathogenic rs886044152 GRCh38 Chromosome 7, 21638937: 21638937
25 DNAH11 NM_001277115.1(DNAH11): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic rs201943194 GRCh37 Chromosome 7, 21750214: 21750214
26 DNAH11 NM_001277115.1(DNAH11): c.6727C> T (p.Arg2243Ter) single nucleotide variant Pathogenic rs201943194 GRCh38 Chromosome 7, 21710596: 21710596
27 DNAH11 NM_001277115.1(DNAH11): c.2966G> A (p.Arg989Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 21639703: 21639703
28 DNAH11 NM_001277115.1(DNAH11): c.2966G> A (p.Arg989Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 21600085: 21600085
29 DNAH11 NM_001277115.1(DNAH11): c.12569G> A (p.Gly4190Asp) single nucleotide variant Uncertain significance rs374787771 GRCh38 Chromosome 7, 21892486: 21892486
30 DNAH11 NM_001277115.1(DNAH11): c.12569G> A (p.Gly4190Asp) single nucleotide variant Uncertain significance rs374787771 GRCh37 Chromosome 7, 21932104: 21932104

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

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