CILD38
MCID: CLR138
MIFTS: 23

Ciliary Dyskinesia, Primary, 38 (CILD38)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 38

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 38:

Name: Ciliary Dyskinesia, Primary, 38 56 73 29 6
Cild38 56 12 73
Ciliary Dyskinesia, Primary, 38, with or Without Situs Inversus 56 73
Primary Ciliary Dyskinesia 38 with or Without Situs Inversus 12
Primary Ciliary Dyskinesia 38 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

31
ciliary dyskinesia, primary, 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111852
OMIM 56 618063
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
UMLS 71 C4748052

Summaries for Ciliary Dyskinesia, Primary, 38

OMIM : 56 Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (618063)

MalaCards based summary : Ciliary Dyskinesia, Primary, 38, is also known as cild38. An important gene associated with Ciliary Dyskinesia, Primary, 38 is CFAP300 (Cilia And Flagella Associated Protein 300). Related phenotypes are conductive hearing impairment and chronic otitis media

Disease Ontology : 12 A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has material basis in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1.

UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 38: 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. CILD38 inheritance is autosomal recessive.

Related Diseases for Ciliary Dyskinesia, Primary, 38

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 38

Human phenotypes related to Ciliary Dyskinesia, Primary, 38:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 31 very rare (1%) HP:0000405
2 chronic otitis media 31 HP:0000389
3 cough 31 HP:0012735
4 neonatal respiratory distress 31 HP:0002643
5 infertility 31 HP:0000789
6 situs inversus totalis 31 HP:0001696
7 bronchiectasis 31 HP:0002110
8 rhinitis 31 HP:0012384
9 chronic sinusitis 31 HP:0011109
10 absent inner and outer dynein arms 31 HP:0012259

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
neonatal respiratory distress
chronic cough
respiratory infections, chronic, due to defective ciliary clearance

Respiratory Lung:
bronchiectasis

Laboratory Abnormalities:
decreased nasal nitric oxide
absent inner and outer dynein arms of the cilia see on electron microscopy of patient respiratory epithelial cells
absence of ciliary motility

Respiratory Nasopharynx:
sinusitis, chronic

Abdomen:
situs inversus (in about 50% of patients)

Genitourinary Internal Genitalia Male:
infertility
asthenozoospermia
reduced sperm count

Head And Neck Nose:
rhinitis

Head And Neck Ears:
conductive hearing loss (in some patients)
otitis media, chronic

Cardiovascular Heart:
dextrocardia (in some patients)

Respiratory Airways:
chronic airway disease

Clinical features from OMIM:

618063

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 38

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 38

Genetic Tests for Ciliary Dyskinesia, Primary, 38

Genetic tests related to Ciliary Dyskinesia, Primary, 38:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 38 29 CFAP300

Anatomical Context for Ciliary Dyskinesia, Primary, 38

Publications for Ciliary Dyskinesia, Primary, 38

Articles related to Ciliary Dyskinesia, Primary, 38:

# Title Authors PMID Year
1
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. 56 6
29727692 2018
2
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. 56 6
29727693 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, 38

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 38:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFAP300 NM_032930.3(CFAP300):c.776A>G (p.His259Arg)SNV Pathogenic 549858 rs1555071691 11:101953902-101953902 11:102083171-102083171
2 CFAP300 NM_032930.3(CFAP300):c.361C>T (p.Arg121Ter)SNV Pathogenic 549859 rs561237622 11:101937308-101937308 11:102066577-102066577
3 CFAP300 NM_032930.3(CFAP300):c.154C>T (p.Gln52Ter)SNV Pathogenic 549860 rs767760877 11:101918589-101918589 11:102047858-102047858
4 CFAP300 NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter)SNV Pathogenic 549861 rs754773453 11:101937380-101937380 11:102066649-102066649
5 CFAP300 NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs)indel Pathogenic 549862 rs1555069023 11:101929616-101929618 11:102058885-102058887
6 CFAP300 NM_032930.3(CFAP300):c.200del (p.Phe67fs)deletion Pathogenic 807552 11:101929613-101929613 11:102058882-102058882

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 38:

73
# Symbol AA change Variation ID SNP ID
1 CFAP300 p.His259Arg VAR_080475 rs155507169

Expression for Ciliary Dyskinesia, Primary, 38

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 38.

Pathways for Ciliary Dyskinesia, Primary, 38

GO Terms for Ciliary Dyskinesia, Primary, 38

Sources for Ciliary Dyskinesia, Primary, 38

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