MCID: CLR127
MIFTS: 15

Ciliary Dyskinesia, Primary, 36, X-Linked

Categories: Genetic diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 36, X-Linked

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 36, X-Linked:

Name: Ciliary Dyskinesia, Primary, 36, X-Linked 57 75 29 6
Ciliary Dyskinesia, Primary, 36, with or Without Situs Inversus 57 75
Cild36 57 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
one family and 1 unrelated patient have been reported (last curated february 2017)


HPO:

32
ciliary dyskinesia, primary, 36, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 36, X-Linked

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 36, X-linked: 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. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node.

MalaCards based summary : Ciliary Dyskinesia, Primary, 36, X-Linked, is also known as ciliary dyskinesia, primary, 36, with or without situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 36, X-Linked is PIH1D3 (PIH1 Domain Containing 3). Related phenotypes are infertility and situs inversus totalis

OMIM : 57 CILD36 is an X-linked recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in childhood and caused by defective ciliary function. Affected individuals also have infertility due to defective sperm flagella. About half of patients have laterality defects due to ciliary dysfunction at the embryonic node (summary by Paff et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (300991)

Related Diseases for Ciliary Dyskinesia, Primary, 36, X-Linked

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 36, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sinusitis, recurrent

Respiratory:
respiratory distress, neonatal
respiratory infections, recurrent (due to impaired ciliary clearance)
chronic cough

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

Laboratory Abnormalities:
decreased nasal nitric oxide
absence of outer dynein arms seen on electron microscopy (em) of respiratory cilia
reduction of inner dynein arms seen on em of respiratory cilia

Head And Neck Ears:
otitis, recurrent

Respiratory Lung:
bronchiectasis

GenitourinaryInternal GenitaliaMale:
infertility (due to immotile sperm)


Clinical features from OMIM:

300991

Human phenotypes related to Ciliary Dyskinesia, Primary, 36, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 situs inversus totalis 32 HP:0001696
3 bronchiectasis 32 HP:0002110
4 neonatal respiratory distress 32 HP:0002643
5 recurrent sinusitis 32 HP:0011108

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 36, X-Linked

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 36, X-Linked

Genetic Tests for Ciliary Dyskinesia, Primary, 36, X-Linked

Genetic tests related to Ciliary Dyskinesia, Primary, 36, X-Linked:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 36, X-Linked 29 PIH1D3

Anatomical Context for Ciliary Dyskinesia, Primary, 36, X-Linked

Publications for Ciliary Dyskinesia, Primary, 36, X-Linked

Variations for Ciliary Dyskinesia, Primary, 36, X-Linked

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 36, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIH1D3 NM_173494.1(PIH1D3): c.357_363delGGTGGGA (p.Val120Leufs) deletion Pathogenic rs1057519568 GRCh37 Chromosome X, 106465999: 106466005
2 PIH1D3 NM_173494.1(PIH1D3): c.357_363delGGTGGGA (p.Val120Leufs) deletion Pathogenic rs1057519568 GRCh38 Chromosome X, 107222769: 107222775
3 PIH1D3 NM_173494.1(PIH1D3): c.355C> T (p.Gln119Ter) single nucleotide variant Pathogenic rs1057519569 GRCh37 Chromosome X, 106465997: 106465997
4 PIH1D3 NM_173494.1(PIH1D3): c.355C> T (p.Gln119Ter) single nucleotide variant Pathogenic rs1057519569 GRCh38 Chromosome X, 107222767: 107222767

Expression for Ciliary Dyskinesia, Primary, 36, X-Linked

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 36, X-Linked.

Pathways for Ciliary Dyskinesia, Primary, 36, X-Linked

GO Terms for Ciliary Dyskinesia, Primary, 36, X-Linked

Sources for Ciliary Dyskinesia, Primary, 36, X-Linked

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