CILD16
MCID: CLR099
MIFTS: 23

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 72 29 13 6 70
Cild16 57 12 72
Primary Ciliary Dyskinesia 16 with or Without Situs Inversus 12 72
Ciliary Dyskinesia, Primary, 16, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 16 39
Primary Ciliary Dyskinesia 16 12
Immotile Cilia Syndrome 16 72
Ics16 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
ciliary dyskinesia, primary, 16:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110613
OMIM® 57 614017
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C3151460
UMLS 70 C3151460

Summaries for Ciliary Dyskinesia, Primary, 16

UniProtKB/Swiss-Prot : 72 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) (Updated 05-Apr-2021)

Related Diseases for Ciliary Dyskinesia, Primary, 16

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 16

Human phenotypes related to Ciliary Dyskinesia, Primary, 16:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 31 HP:0000389
2 situs inversus totalis 31 HP:0001696
3 bronchiectasis 31 HP:0002110
4 ciliary dyskinesia 31 HP:0012265
5 chronic rhinitis 31 HP:0002257
6 chronic sinusitis 31 HP:0011109
7 pulmonary insufficiency 31 HP:0010444
8 abnormal ciliary motility 31 HP:0012262
9 absent outer dynein arms 31 HP:0012256

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Articles related to Ciliary Dyskinesia, Primary, 16:

# Title Authors PMID Year
1
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 6 57
21496787 2011

Variations for Ciliary Dyskinesia, Primary, 16

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

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAL1 NM_031427.4(DNAL1):c.384del (p.Asp129fs) Deletion Pathogenic 406536 rs1060501178 GRCh37: 14:74154078-74154078
GRCh38: 14:73687375-73687375
2 DNAL1 NM_031427.4(DNAL1):c.486G>A (p.Trp162Ter) SNV Pathogenic 406527 rs372572996 GRCh37: 14:74156172-74156172
GRCh38: 14:73689469-73689469
3 DNAL1 NC_000014.9:g.(?_73671522)_(73671617_?)del Deletion Pathogenic 662859 GRCh37: 14:74138225-74138320
GRCh38: 14:73671522-73671617
4 DNAL1 NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer) Deletion Pathogenic 228252 rs876657637 GRCh37: 14:74138259-74138265
GRCh38: 14:73671556-73671562
5 DNAL1 NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser) SNV Pathogenic 30816 rs387907021 GRCh37: 14:74156135-74156135
GRCh38: 14:73689432-73689432
6 DNAL1 NC_000014.9:g.(?_73671542)_(73671597_?)del Deletion Uncertain significance 417385 GRCh37: 14:74138245-74138300
GRCh38: 14:73671542-73671597
7 DNAL1 NM_031427.4(DNAL1):c.264+4G>C SNV Uncertain significance 939135 GRCh37: 14:74138304-74138304
GRCh38: 14:73671601-73671601
8 DNAL1 NM_031427.4(DNAL1):c.530A>G (p.Asp177Gly) SNV Uncertain significance 1004436 GRCh37: 14:74156216-74156216
GRCh38: 14:73689513-73689513
9 DNAL1 NM_031427.4(DNAL1):c.503del (p.Lys168fs) Deletion Uncertain significance 639680 rs1294769916 GRCh37: 14:74156188-74156188
GRCh38: 14:73689485-73689485
10 DNAL1 NM_031427.4(DNAL1):c.34G>A (p.Ala12Thr) SNV Uncertain significance 940642 GRCh37: 14:74121580-74121580
GRCh38: 14:73654877-73654877
11 DNAL1 NM_031427.4(DNAL1):c.533-2A>G SNV Uncertain significance 471908 rs1555403597 GRCh37: 14:74162603-74162603
GRCh38: 14:73695900-73695900
12 DNAL1 NM_031427.4(DNAL1):c.221T>G (p.Ile74Arg) SNV Uncertain significance 539288 rs781680294 GRCh37: 14:74138257-74138257
GRCh38: 14:73671554-73671554
13 DNAL1 NM_031427.4(DNAL1):c.181G>C (p.Glu61Gln) SNV Uncertain significance 655692 rs1595207277 GRCh37: 14:74128718-74128718
GRCh38: 14:73662015-73662015
14 DNAL1 NM_031427.4(DNAL1):c.472G>T (p.Ala158Ser) SNV Uncertain significance 661003 rs1595225843 GRCh37: 14:74156158-74156158
GRCh38: 14:73689455-73689455
15 DNAL1 NM_031427.4(DNAL1):c.81G>C (p.Glu27Asp) SNV Uncertain significance 220484 rs774964160 GRCh37: 14:74125588-74125588
GRCh38: 14:73658885-73658885
16 DNAL1 NM_031427.4(DNAL1):c.35C>T (p.Ala12Val) SNV Uncertain significance 578088 rs948104206 GRCh37: 14:74121581-74121581
GRCh38: 14:73654878-73654878
17 DNAL1 NM_031427.4(DNAL1):c.286_288GAA[1] (p.Glu97del) Microsatellite Uncertain significance 656064 rs1595224083 GRCh37: 14:74153982-74153984
GRCh38: 14:73687279-73687281
18 DNAL1 NM_031427.4(DNAL1):c.490G>A (p.Glu164Lys) SNV Uncertain significance 314018 rs190778454 GRCh37: 14:74156176-74156176
GRCh38: 14:73689473-73689473
19 overlap with 16 genes NC_000014.8:g.(?_74111723)_(74727642_?)dup Duplication Uncertain significance 656294 GRCh37: 14:74111723-74727642
GRCh38: 14:73645020-74260939
20 DNAL1 NM_031427.4(DNAL1):c.43-4A>G SNV Uncertain significance 261960 rs748496499 GRCh37: 14:74125546-74125546
GRCh38: 14:73658843-73658843
21 DNAL1 NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) SNV Likely benign 178765 rs141873943 GRCh37: 14:74156101-74156101
GRCh38: 14:73689398-73689398
22 DNAL1 NM_031427.4(DNAL1):c.492A>G (p.Glu164=) SNV Likely benign 241619 rs150636700 GRCh37: 14:74156178-74156178
GRCh38: 14:73689475-73689475
23 DNAL1 NM_031427.4(DNAL1):c.43-9T>C SNV Likely benign 708249 rs1595204699 GRCh37: 14:74125541-74125541
GRCh38: 14:73658838-73658838
24 DNAL1 NM_031427.4(DNAL1):c.4-10T>G SNV Likely benign 414001 rs776047200 GRCh37: 14:74121540-74121540
GRCh38: 14:73654837-73654837
25 DNAL1 NM_031427.4(DNAL1):c.234A>G (p.Gly78=) SNV Likely benign 471907 rs746314619 GRCh37: 14:74138270-74138270
GRCh38: 14:73671567-73671567
26 DNAL1 NM_031427.4(DNAL1):c.391+9A>G SNV Benign 241618 rs149911093 GRCh37: 14:74154097-74154097
GRCh38: 14:73687394-73687394

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

72
# Symbol AA change Variation ID SNP ID
1 DNAL1 p.Asn150Ser VAR_065739 rs387907021

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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