CILD40
MCID: CLR140
MIFTS: 25

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 56 73 29 6
Cild40 56 12 73
Ciliary Dyskinesia, Primary, 40, with or Without Situs Inversus 56 73
Primary Ciliary Dyskinesia 40 with or Without Situs Inversus 12
Primary Ciliary Dyskinesia 40 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
relatively mild phenotype


HPO:

31
ciliary dyskinesia, primary, 40:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111853
OMIM 56 618300
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
UMLS 71 C4749028

Summaries for Ciliary Dyskinesia, Primary, 40

OMIM : 56 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 cild40. 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 cough and azoospermia

Disease Ontology : 12 A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has material basis in homozygous or compound heterozygous mutation in DNAH9 on chromosome 17p12.

UniProtKB/Swiss-Prot : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 cough 31 HP:0012735
2 azoospermia 31 HP:0000027
3 infertility 31 HP:0000789
4 situs inversus totalis 31 HP:0001696
5 rhinitis 31 HP:0012384

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
30471717 2018
2
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. 56 6
30471718 2018
3
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
6
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 40

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAH9 NM_001372.4(DNAH9):c.12367G>A (p.Asp4123Asn)SNV Pathogenic 617518 rs1267599270 17:11837266-11837266 17:11933949-11933949
2 DNAH9 NM_001372.4(DNAH9):c.10193G>T (p.Arg3398Leu)SNV Pathogenic 617519 rs763238622 17:11775054-11775054 17:11871737-11871737
3 DNAH9 NM_001372.4(DNAH9):c.8708-2A>GSNV Pathogenic 617520 rs143007518 17:11725235-11725235 17:11821918-11821918
4 DNAH9 NM_001372.4(DNAH9):c.8251C>T (p.Gln2751Ter)SNV Pathogenic 617521 rs1567808990 17:11700941-11700941 17:11797624-11797624
5 DNAH9 NM_001372.4(DNAH9):c.1970+4A>GSNV Pathogenic 617523 rs368341716 17:11548020-11548020 17:11644703-11644703
6 DNAH9 NM_001372.4(DNAH9):c.3354-1G>TSNV Pathogenic 617524 rs969193071 17:11583073-11583073 17:11679756-11679756
7 DNAH9 NM_001372.4(DNAH9):c.10127dup (p.Leu3376fs)duplication Pathogenic 617525 rs867177356 17:11774986-11774987 17:11871669-11871670
8 DNAH9 NM_001372.4(DNAH9):c.8894G>A (p.Arg2965His)SNV no interpretation for the single variant 617663 rs375908701 17:11725798-11725798 17:11822481-11822481
9 DNAH9 NM_001372.4(DNAH9):c.5641A>G (p.Lys1881Glu)SNV no interpretation for the single variant 617662 rs1567747142 17:11622739-11622739 17:11719422-11719422

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

73
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....