CILD40
MCID: CLR140
MIFTS: 22

Ciliary Dyskinesia, Primary, 40 (CILD40)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 40

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 40:

Name: Ciliary Dyskinesia, Primary, 40 58 76 6
Ciliary Dyskinesia, Primary, 40, with or Without Situs Inversus 58 76
Cild40 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
relatively mild phenotype


Classifications:



External Ids:

OMIM 58 618300
MeSH 45 D007619
MedGen 43 CN258165

Summaries for Ciliary Dyskinesia, Primary, 40

OMIM : 58 CILD40 is an autosomal recessive primary ciliary dyskinesia with a relatively mild respiratory phenotype compared to other CILDs. Patients present in childhood with mild upper respiratory symptoms and infections, but typically do not develop serious lung disease. Nitric oxide levels are low-normal or normal. All reported patients have had situs inversus, including several with severe congenital cardiac malformations, but left-right body asymmetry is still theoretically random and would occur in 50% of patients (summary by Loges et al., 2018). For a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). (618300)

MalaCards based summary : Ciliary Dyskinesia, Primary, 40, is also known as ciliary dyskinesia, primary, 40, with or without situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 40 is DNAH9 (Dynein Axonemal Heavy Chain 9). Affiliated tissues include lung and heart, and related phenotypes are azoospermia and infertility

UniProtKB/Swiss-Prot : 76 Ciliary dyskinesia, primary, 40: A form of primary ciliary dyskinesia, 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. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive.

Related Diseases for Ciliary Dyskinesia, Primary, 40

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 40

Human phenotypes related to Ciliary Dyskinesia, Primary, 40:

33
# Description HPO Frequency HPO Source Accession
1 azoospermia 33 HP:0000027
2 infertility 33 HP:0000789
3 situs inversus totalis 33 HP:0001696

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
azoospermia
infertility

Cardiovascular Heart:
congenital heart defects (in some patients)
situs inversus

Respiratory:
chronic cough
upper respiratory tract symptoms

Head And Neck Nose:
rhinitis

Abdomen:
situs inversus

Laboratory Abnormalities:
decreased bending of distal ciliary axoneme
abnormal ciliary beat pattern, subtle

Clinical features from OMIM:

618300

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 40

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 40

Genetic Tests for Ciliary Dyskinesia, Primary, 40

Anatomical Context for Ciliary Dyskinesia, Primary, 40

MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 40:

42
Lung, Heart

Publications for Ciliary Dyskinesia, Primary, 40

Articles related to Ciliary Dyskinesia, Primary, 40:

# Title Authors Year
1
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. ( 30471717 )
2018
2
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. ( 30471718 )
2018

Variations for Ciliary Dyskinesia, Primary, 40

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 40:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH9 NM_001372.4(DNAH9): c.12367G> A (p.Asp4123Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 11837266: 11837266
2 DNAH9 NM_001372.4(DNAH9): c.12367G> A (p.Asp4123Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 11933949: 11933949
3 DNAH9 NM_001372.4(DNAH9): c.10193G> T (p.Arg3398Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 11775054: 11775054
4 DNAH9 NM_001372.4(DNAH9): c.10193G> T (p.Arg3398Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 11871737: 11871737
5 DNAH9 NM_001372.4(DNAH9): c.8708-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 17, 11821918: 11821918
6 DNAH9 NM_001372.4(DNAH9): c.8708-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 17, 11725235: 11725235
7 DNAH9 NM_001372.4(DNAH9): c.8251C> T (p.Gln2751Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 11700941: 11700941
8 DNAH9 NM_001372.4(DNAH9): c.8251C> T (p.Gln2751Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 11797624: 11797624
9 DNAH9 NM_001372.4(DNAH9): c.5641A> G (p.Lys1881Glu) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 17, 11719422: 11719422
10 DNAH9 NM_001372.4(DNAH9): c.5641A> G (p.Lys1881Glu) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 17, 11622739: 11622739
11 DNAH9 NM_001372.4(DNAH9): c.1970+4A> G single nucleotide variant Pathogenic GRCh37 Chromosome 17, 11548020: 11548020
12 DNAH9 NM_001372.4(DNAH9): c.1970+4A> G single nucleotide variant Pathogenic GRCh38 Chromosome 17, 11644703: 11644703
13 DNAH9 NM_001372.4(DNAH9): c.3354-1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 17, 11583073: 11583073
14 DNAH9 NM_001372.4(DNAH9): c.3354-1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 17, 11679756: 11679756
15 DNAH9 NM_001372.4(DNAH9): c.10127dup (p.Leu3376Phefs) duplication Pathogenic GRCh38 Chromosome 17, 11871671: 11871671
16 DNAH9 NM_001372.4(DNAH9): c.10127dup (p.Leu3376Phefs) duplication Pathogenic GRCh37 Chromosome 17, 11774988: 11774988
17 DNAH9 NM_001372.4(DNAH9): c.8894G> A (p.Arg2965His) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 17, 11725798: 11725798
18 DNAH9 NM_001372.4(DNAH9): c.8894G> A (p.Arg2965His) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 17, 11822481: 11822481

Expression for Ciliary Dyskinesia, Primary, 40

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 40.

Pathways for Ciliary Dyskinesia, Primary, 40

GO Terms for Ciliary Dyskinesia, Primary, 40

Sources for Ciliary Dyskinesia, Primary, 40

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