CILD11
MCID: CLR053
MIFTS: 26

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 56 73 29 13 6 71
Cild11 56 12 73
Primary Ciliary Dyskinesia 11 Without Situs Inversus 12 73
Primary Ciliary Dyskinesia 11 12 15
Ciliary Dyskinesia, Primary, 11, Without Situs Inversus 56
Dyskinesia, Ciliary, Primary, 11 39
Immotile Cilia Syndrome 11 73
Ics11 73

Characteristics:

HPO:

31
ciliary dyskinesia, primary, 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110602
OMIM 56 612649
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
MedGen 41 C2675229
UMLS 71 C2675229

Summaries for Ciliary Dyskinesia, Primary, 11

UniProtKB/Swiss-Prot : 73 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, also known as cild11, is related to mucinous stomach adenocarcinoma and visual epilepsy. An important gene associated with Ciliary Dyskinesia, Primary, 11 is RSPH4A (Radial Spoke Head Component 4A), and among its related pathways/superpathways is Glycerophospholipid biosynthesis. 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

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3 Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7 Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9 Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17 Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19 Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27 Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32 Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34 Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37 Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Primary, 39 Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41 Ciliary Dyskinesia, Primary, 42
Ciliary Dyskinesia, Primary, 43 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mucinous stomach adenocarcinoma 9.4 PTEN ALDH7A1
2 visual epilepsy 9.2 PTEN ALDH7A1

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 11

Human phenotypes related to Ciliary Dyskinesia, Primary, 11:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 exercise intolerance 31 HP:0003546
3 bronchiectasis 31 HP:0002110
4 chronic rhinitis 31 HP:0002257
5 ciliary dyskinesia 31 HP:0012265
6 recurrent sinusitis 31 HP:0011108
7 abnormal ciliary motility 31 HP:0012262
8 abnormal central microtubular pair morphology of respiratory motile cilia 31 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. 56 6
23798057 2013
2
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 56 6
23993197 2013
3
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 56 6
19200523 2009
4
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
5
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
6
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
7
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 11

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RSPH4A NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)SNV Pathogenic 503 rs118204041 6:116938246-116938246 6:116617083-116617083
2 RSPH4A NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)SNV Pathogenic 504 rs118204042 6:116938111-116938111 6:116616948-116616948
3 RSPH4A NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)SNV Pathogenic 505 rs118204043 6:116949338-116949338 6:116628175-116628175
4 RSPH4A NM_001010892.3(RSPH4A):c.667del (p.Ser223fs)deletion Pathogenic 66992 rs397518455 6:116938453-116938453 6:116617290-116617290
5 RSPH4A NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs)deletion Pathogenic 66993 rs397518456 6:116949139-116949139 6:116627976-116627976
6 RSPH4A NM_001010892.3(RSPH4A):c.921+3_921+6deldeletion Pathogenic 88863 rs869320683 6:116944165-116944168 6:116623002-116623005
7 RSPH4A NM_001010892.3(RSPH4A):c.1662+2_1662+5deldeletion Pathogenic 441117 rs768986129 6:116949531-116949534 6:116628368-116628371
8 RSPH4A NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)SNV Conflicting interpretations of pathogenicity 525269 rs756868889 6:116938216-116938216 6:116617053-116617053

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

73
# 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

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