CILD40
MCID: CLR140
MIFTS: 24

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 57 74 29 6
Ciliary Dyskinesia, Primary, 40, with or Without Situs Inversus 57 74
Cild40 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
relatively mild phenotype


HPO:

32
ciliary dyskinesia, primary, 40:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D007619

Summaries for Ciliary Dyskinesia, Primary, 40

OMIM : 57 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 : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 infertility 32 HP:0000789
3 situs inversus totalis 32 HP:0001696
4 rhinitis 32 HP:0012384

Symptoms via clinical synopsis from OMIM:

57
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

Genetic tests related to Ciliary Dyskinesia, Primary, 40:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 40 29 DNAH9

Anatomical Context for Ciliary Dyskinesia, Primary, 40

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

41
Lung, Heart

Publications for Ciliary Dyskinesia, Primary, 40

Articles related to Ciliary Dyskinesia, Primary, 40:

# Title Authors PMID Year
1
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. 8 71
30471717 2018
2
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. 8 71
30471718 2018
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
6
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 40

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DNAH9 NM_001372.4(DNAH9): c.12367G> A (p.Asp4123Asn) single nucleotide variant Pathogenic 17:11837266-11837266 17:11933949-11933949
2 DNAH9 NM_001372.4(DNAH9): c.10193G> T (p.Arg3398Leu) single nucleotide variant Pathogenic 17:11775054-11775054 17:11871737-11871737
3 DNAH9 NM_001372.4(DNAH9): c.8708-2A> G single nucleotide variant Pathogenic 17:11725235-11725235 17:11821918-11821918
4 DNAH9 NM_001372.4(DNAH9): c.8251C> T (p.Gln2751Ter) single nucleotide variant Pathogenic 17:11700941-11700941 17:11797624-11797624
5 DNAH9 NM_001372.4(DNAH9): c.1970+4A> G single nucleotide variant Pathogenic 17:11548020-11548020 17:11644703-11644703
6 DNAH9 NM_001372.4(DNAH9): c.3354-1G> T single nucleotide variant Pathogenic 17:11583073-11583073 17:11679756-11679756
7 DNAH9 NM_001372.4(DNAH9): c.10127dup (p.Leu3376fs) duplication Pathogenic 17:11774988-11774988 17:11871671-11871671
8 DNAH9 NM_001372.4(DNAH9): c.8894G> A (p.Arg2965His) single nucleotide variant no interpretation for the single variant 17:11725798-11725798 17:11822481-11822481
9 DNAH9 NM_001372.4(DNAH9): c.5641A> G (p.Lys1881Glu) single nucleotide variant no interpretation for the single variant 17:11622739-11622739 17:11719422-11719422

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 40:

74
# Symbol AA change Variation ID SNP ID
1 DNAH9 p.Lys1881Glu VAR_081804
2 DNAH9 p.Arg2965His VAR_081806 rs375908701
3 DNAH9 p.Arg3398Leu VAR_081807
4 DNAH9 p.Asp4123Asn VAR_081809 rs126759927

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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