CILD36
MCID: CLR127
MIFTS: 20

Ciliary Dyskinesia, Primary, 36, X-Linked (CILD36)

Categories: Fetal diseases, 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 72 29 6
Cild36 57 12 72
Ciliary Dyskinesia, Primary, 36, with or Without Situs Inversus 57 72
X-Linked Primary Ciliary Dyskinesia 36 12
Primary Ciliary Dyskinesia 36 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

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


HPO:

31
ciliary dyskinesia, primary, 36, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111850
OMIM® 57 300991
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619

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

UniProtKB/Swiss-Prot : 72 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 cild36. An important gene associated with Ciliary Dyskinesia, Primary, 36, X-Linked is DNAAF6 (Dynein Axonemal Assembly Factor 6). Related phenotypes are neonatal respiratory distress and cough

Disease Ontology : 12 A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has material basis in hemizygous mutation in PIH1D3 on chromosome Xq22.3.

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) (Updated 20-May-2021)

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

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 neonatal respiratory distress 31 HP:0002643
2 cough 31 HP:0012735
3 infertility 31 HP:0000789
4 situs inversus totalis 31 HP:0001696
5 bronchiectasis 31 HP:0002110
6 recurrent sinusitis 31 HP:0011108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
bronchiectasis

Head And Neck Ears:
otitis, recurrent

Head And Neck Head:
sinusitis, recurrent

Genitourinary Internal Genitalia Male:
infertility (due to immotile sperm)

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

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

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

Clinical features from OMIM®:

300991 (Updated 20-May-2021)

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 DNAAF6

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

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

Articles related to Ciliary Dyskinesia, Primary, 36, X-Linked:

# Title Authors PMID Year
1
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. 57 6
28041644 2017
2
Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse sperm. 57
24421334 2014

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAAF6 NM_173494.2(DNAAF6):c.355C>T (p.Gln119Ter) SNV Pathogenic 375563 rs1057519569 GRCh37: X:106465997-106465997
GRCh38: X:107222767-107222767
2 DNAAF6 NM_173494.2(DNAAF6):c.357_363del (p.Val120fs) Deletion Pathogenic 375562 rs1057519568 GRCh37: X:106465998-106466004
GRCh38: X:107222768-107222774
3 DNAAF6 NM_173494.2(DNAAF6):c.322_332del (p.Glu108Valfs) Deletion Pathogenic 870123 GRCh37: X:106462186-106462196
GRCh38: X:107218956-107218966
4 DNAAF6 NM_173494.2(DNAAF6):c.290G>T (p.Gly97Val) SNV Pathogenic 917481 GRCh37: X:106462157-106462157
GRCh38: X:107218927-107218927
5 DNAAF6 NM_173494.2(DNAAF6):c.502C>T (p.Arg168Cys) SNV Uncertain significance 562215 rs775335375 GRCh37: X:106482224-106482224
GRCh38: X:107238994-107238994
6 DNAAF6 NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys) SNV Benign 771062 rs147979953 GRCh37: X:106462111-106462111
GRCh38: X:107218881-107218881

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 36, X-Linked:

72
# Symbol AA change Variation ID SNP ID
1 DNAAF6 p.Asp133Tyr VAR_083178

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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