CILD16
MCID: CLR099
MIFTS: 21

Ciliary Dyskinesia, Primary, 16 (CILD16)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 16

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 16:

Name: Ciliary Dyskinesia, Primary, 16 57 75 29 13 6 73
Cild16 57 12 75
Primary Ciliary Dyskinesia 16 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 16, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 16 40
Primary Ciliary Dyskinesia 16 12
Immotile Cilia Syndrome 16 75
Ics16 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two families have been reported (as of june 2011)


HPO:

32
ciliary dyskinesia, primary, 16:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614017
Disease Ontology 12 DOID:0110613
ICD10 33 Q34.8
MedGen 42 C3151460
MeSH 44 D007619
UMLS 73 C3151460

Summaries for Ciliary Dyskinesia, Primary, 16

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 16: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

MalaCards based summary : Ciliary Dyskinesia, Primary, 16, is also known as cild16. An important gene associated with Ciliary Dyskinesia, Primary, 16 is DNAL1 (Dynein Axonemal Light Chain 1). Related phenotypes are chronic otitis media and situs inversus totalis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has material basis in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.

OMIM : 57 Primary ciliary dyskinesia-16 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (summary by Mazor et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (614017)

Related Diseases for Ciliary Dyskinesia, Primary, 16

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 16

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
chronic otitis media

Head And Neck Nose:
chronic rhinitis

Abdomen:
situs inversus

Laboratory Abnormalities:
immotile or weakly motile cilia
absence of outer dynein arms

Respiratory Lung:
bronchiectasis

Head And Neck Head:
chronic sinusitis

Respiratory:
chronic pulmonary insufficiency


Clinical features from OMIM:

614017

Human phenotypes related to Ciliary Dyskinesia, Primary, 16:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 32 HP:0000389
2 situs inversus totalis 32 HP:0001696
3 bronchiectasis 32 HP:0002110
4 chronic rhinitis 32 HP:0002257
5 chronic sinusitis 32 HP:0011109
6 ciliary dyskinesia 32 HP:0012265
7 abnormal ciliary motility 32 HP:0012262
8 absent outer dynein arms 32 HP:0012256

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 16

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 16

Genetic Tests for Ciliary Dyskinesia, Primary, 16

Genetic tests related to Ciliary Dyskinesia, Primary, 16:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 16 29 DNAL1

Anatomical Context for Ciliary Dyskinesia, Primary, 16

Publications for Ciliary Dyskinesia, Primary, 16

Variations for Ciliary Dyskinesia, Primary, 16

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 16:

75
# Symbol AA change Variation ID SNP ID
1 DNAL1 p.Asn150Ser VAR_065739 rs387907021

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 16:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh37 Chromosome 14, 74156135: 74156135
2 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh38 Chromosome 14, 73689432: 73689432
3 DNAL1 NM_031427.3(DNAL1): c.415C> G (p.Leu139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141873943 GRCh38 Chromosome 14, 73689398: 73689398
4 DNAL1 NM_031427.3(DNAL1): c.415C> G (p.Leu139Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141873943 GRCh37 Chromosome 14, 74156101: 74156101
5 DNAL1 NM_031427.3(DNAL1): c.81G> C (p.Glu27Asp) single nucleotide variant Uncertain significance rs774964160 GRCh37 Chromosome 14, 74125588: 74125588
6 DNAL1 NM_031427.3(DNAL1): c.81G> C (p.Glu27Asp) single nucleotide variant Uncertain significance rs774964160 GRCh38 Chromosome 14, 73658885: 73658885
7 DNAL1 NM_031427.3(DNAL1): c.391+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs149911093 GRCh38 Chromosome 14, 73687394: 73687394
8 DNAL1 NM_031427.3(DNAL1): c.391+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs149911093 GRCh37 Chromosome 14, 74154097: 74154097
9 DNAL1 NM_031427.3(DNAL1): c.492A> G (p.Glu164=) single nucleotide variant Likely benign rs150636700 GRCh37 Chromosome 14, 74156178: 74156178
10 DNAL1 NM_031427.3(DNAL1): c.492A> G (p.Glu164=) single nucleotide variant Likely benign rs150636700 GRCh38 Chromosome 14, 73689475: 73689475
11 DNAL1 NM_031427.3(DNAL1): c.43-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs748496499 GRCh38 Chromosome 14, 73658843: 73658843
12 DNAL1 NM_031427.3(DNAL1): c.43-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs748496499 GRCh37 Chromosome 14, 74125546: 74125546
13 DNAL1 NC_000014.9: g.(?_73671542)_(73671597_?)del deletion Uncertain significance GRCh38 Chromosome 14, 73671542: 73671597
14 DNAL1 NC_000014.9: g.(?_73671542)_(73671597_?)del deletion Uncertain significance GRCh37 Chromosome 14, 74138245: 74138300
15 DNAL1 NM_031427.3(DNAL1): c.384delA (p.Asp129Thrfs) deletion Uncertain significance rs1060501178 GRCh37 Chromosome 14, 74154081: 74154081
16 DNAL1 NM_031427.3(DNAL1): c.384delA (p.Asp129Thrfs) deletion Uncertain significance rs1060501178 GRCh38 Chromosome 14, 73687378: 73687378
17 DNAL1 NM_031427.3(DNAL1): c.4-10T> G single nucleotide variant Likely benign rs776047200 GRCh38 Chromosome 14, 73654837: 73654837
18 DNAL1 NM_031427.3(DNAL1): c.4-10T> G single nucleotide variant Likely benign rs776047200 GRCh37 Chromosome 14, 74121540: 74121540
19 DNAL1 NM_031427.3(DNAL1): c.486G> A (p.Trp162Ter) single nucleotide variant Uncertain significance rs372572996 GRCh37 Chromosome 14, 74156172: 74156172
20 DNAL1 NM_031427.3(DNAL1): c.486G> A (p.Trp162Ter) single nucleotide variant Uncertain significance rs372572996 GRCh38 Chromosome 14, 73689469: 73689469
21 DNAL1 NM_031427.3(DNAL1): c.4-4A> T single nucleotide variant Likely benign rs576147534 GRCh37 Chromosome 14, 74121546: 74121546
22 DNAL1 NM_031427.3(DNAL1): c.4-4A> T single nucleotide variant Likely benign rs576147534 GRCh38 Chromosome 14, 73654843: 73654843
23 DNAL1 NM_031427.3(DNAL1): c.533-2A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 74162603: 74162603
24 DNAL1 NM_031427.3(DNAL1): c.533-2A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 73695900: 73695900
25 DNAL1 NM_031427.3(DNAL1): c.234A> G (p.Gly78=) single nucleotide variant Likely benign rs746314619 GRCh37 Chromosome 14, 74138270: 74138270
26 DNAL1 NM_031427.3(DNAL1): c.234A> G (p.Gly78=) single nucleotide variant Likely benign rs746314619 GRCh38 Chromosome 14, 73671567: 73671567
27 DNAL1 NM_031427.3(DNAL1): c.221T> G (p.Ile74Arg) single nucleotide variant Uncertain significance rs781680294 GRCh37 Chromosome 14, 74138257: 74138257
28 DNAL1 NM_031427.3(DNAL1): c.221T> G (p.Ile74Arg) single nucleotide variant Uncertain significance rs781680294 GRCh38 Chromosome 14, 73671554: 73671554
29 DNAL1 NM_031427.3(DNAL1): c.35C> T (p.Ala12Val) single nucleotide variant Uncertain significance rs948104206 GRCh37 Chromosome 14, 74121581: 74121581
30 DNAL1 NM_031427.3(DNAL1): c.35C> T (p.Ala12Val) single nucleotide variant Uncertain significance rs948104206 GRCh38 Chromosome 14, 73654878: 73654878

Expression for Ciliary Dyskinesia, Primary, 16

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 16.

Pathways for Ciliary Dyskinesia, Primary, 16

GO Terms for Ciliary Dyskinesia, Primary, 16

Sources for Ciliary Dyskinesia, Primary, 16

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