CILD38
MCID: CLR138
MIFTS: 17

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 58 76 6
Ciliary Dyskinesia, Primary, 38, with or Without Situs Inversus 58 76
Cild38 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


Classifications:



External Ids:

OMIM 58 618063
MeSH 45 D007619
MedGen 43 CN252651

Summaries for Ciliary Dyskinesia, Primary, 38

OMIM : 58 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 ciliary dyskinesia, primary, 38, with or without situs inversus. 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

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 33 very rare (1%) HP:0000405
2 chronic otitis media 33 HP:0000389
3 neonatal respiratory distress 33 HP:0002643
4 cough 33 HP:0012735
5 absent inner and outer dynein arms 33 HP:0012259

Symptoms via clinical synopsis from OMIM:

58
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:
asthenozoospermia
reduced sperm count

Genitourinary:
infertility

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

Anatomical Context for Ciliary Dyskinesia, Primary, 38

Publications for Ciliary Dyskinesia, Primary, 38

Variations for Ciliary Dyskinesia, Primary, 38

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

76
# Symbol AA change Variation ID SNP ID
1 CFAP300 p.His259Arg VAR_080475

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFAP300 NM_032930.2(CFAP300): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs1555071691 GRCh37 Chromosome 11, 101953902: 101953902
2 CFAP300 NM_032930.2(CFAP300): c.776A> G (p.His259Arg) single nucleotide variant Pathogenic rs1555071691 GRCh38 Chromosome 11, 102083171: 102083171
3 CFAP300 NM_032930.2(CFAP300): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs561237622 GRCh37 Chromosome 11, 101937308: 101937308
4 CFAP300 NM_032930.2(CFAP300): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic rs561237622 GRCh38 Chromosome 11, 102066577: 102066577
5 CFAP300 NM_032930.2(CFAP300): c.154C> T (p.Gln52Ter) single nucleotide variant Pathogenic rs767760877 GRCh37 Chromosome 11, 101918589: 101918589
6 CFAP300 NM_032930.2(CFAP300): c.154C> T (p.Gln52Ter) single nucleotide variant Pathogenic rs767760877 GRCh38 Chromosome 11, 102047858: 102047858
7 CFAP300 NM_032930.2(CFAP300): c.433A> T (p.Arg145Ter) single nucleotide variant Pathogenic rs754773453 GRCh37 Chromosome 11, 101937380: 101937380
8 CFAP300 NM_032930.2(CFAP300): c.433A> T (p.Arg145Ter) single nucleotide variant Pathogenic rs754773453 GRCh38 Chromosome 11, 102066649: 102066649
9 CFAP300 NM_032930.2(CFAP300): c.198_200delTTTinsCC (p.Phe67Profs) indel Pathogenic rs1555069023 GRCh38 Chromosome 11, 102058885: 102058887
10 CFAP300 NM_032930.2(CFAP300): c.198_200delTTTinsCC (p.Phe67Profs) indel Pathogenic rs1555069023 GRCh37 Chromosome 11, 101929616: 101929618

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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