CILD11
MCID: CLR053
MIFTS: 22

Ciliary Dyskinesia, Primary, 11 (CILD11)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 11

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 11:

Name: Ciliary Dyskinesia, Primary, 11 57 74 29 13 6 72
Cild11 57 12 74
Primary Ciliary Dyskinesia 11 Without Situs Inversus 12 74
Ciliary Dyskinesia, Primary, 11, Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 11 40
Primary Ciliary Dyskinesia 11 12
Immotile Cilia Syndrome 11 74
Ics11 74

Characteristics:

HPO:

32
ciliary dyskinesia, primary, 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110602
MeSH 44 D007619
ICD10 33 Q34.8
MedGen 42 C2675229
UMLS 72 C2675229

Summaries for Ciliary Dyskinesia, Primary, 11

UniProtKB/Swiss-Prot : 74 Ciliary dyskinesia, primary, 11: 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

MalaCards based summary : Ciliary Dyskinesia, Primary, 11, is also known as cild11. An important gene associated with Ciliary Dyskinesia, Primary, 11 is RSPH4A (Radial Spoke Head Component 4A). Related phenotypes are short stature and exercise intolerance

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has material basis in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.

More information from OMIM: 612649 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 11

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 11

Human phenotypes related to Ciliary Dyskinesia, Primary, 11:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 exercise intolerance 32 HP:0003546
3 bronchiectasis 32 HP:0002110
4 chronic rhinitis 32 HP:0002257
5 ciliary dyskinesia 32 HP:0012265
6 recurrent sinusitis 32 HP:0011108
7 abnormal ciliary motility 32 HP:0012262
8 abnormal central microtubular pair morphology of respiratory motile cilia 32 HP:0012260

Clinical features from OMIM:

612649

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 11

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 11

Genetic Tests for Ciliary Dyskinesia, Primary, 11

Genetic tests related to Ciliary Dyskinesia, Primary, 11:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 11 29 RSPH4A

Anatomical Context for Ciliary Dyskinesia, Primary, 11

Publications for Ciliary Dyskinesia, Primary, 11

Articles related to Ciliary Dyskinesia, Primary, 11:

# Title Authors PMID Year
1
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 8 71
23798057 2013
2
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 8 71
23993197 2013
3
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 8 71
19200523 2009
4
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
5
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
6
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
7
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 11

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 11:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RSPH4A NM_001010892.3(RSPH4A): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs118204041 6:116938246-116938246 6:116617083-116617083
2 RSPH4A NM_001010892.3(RSPH4A): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs118204042 6:116938111-116938111 6:116616948-116616948
3 RSPH4A NM_001010892.3(RSPH4A): c.1468C> T (p.Arg490Ter) single nucleotide variant Pathogenic rs118204043 6:116949338-116949338 6:116628175-116628175
4 RSPH4A NM_001010892.3(RSPH4A): c.667del (p.Ser223fs) deletion Pathogenic rs397518455 6:116938453-116938453 6:116617290-116617290
5 RSPH4A NM_001010892.3(RSPH4A): c.1270del (p.Thr424fs) deletion Pathogenic rs397518456 6:116949140-116949140 6:116627977-116627977
6 RSPH4A NM_001010892.3(RSPH4A): c.921+3_921+6del deletion Pathogenic rs869320683 6:116944168-116944171 6:116623005-116623008
7 RSPH4A NM_001010892.3(RSPH4A): c.1662+2_1662+5del deletion Pathogenic rs768986129 6:116949531-116949534 6:116628371-116628374
8 RSPH4A NM_001010892.3(RSPH4A): c.430C> T (p.Gln144Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs756868889 6:116938216-116938216 6:116617053-116617053

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 11:

74
# Symbol AA change Variation ID SNP ID
1 RSPH4A p.Pro87Ser VAR_055235 rs767490154

Expression for Ciliary Dyskinesia, Primary, 11

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 11.

Pathways for Ciliary Dyskinesia, Primary, 11

GO Terms for Ciliary Dyskinesia, Primary, 11

Sources for Ciliary Dyskinesia, Primary, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....