CILD12
MCID: CLR054
MIFTS: 26

Ciliary Dyskinesia, Primary, 12 (CILD12)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 12

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 12:

Name: Ciliary Dyskinesia, Primary, 12 57 72 29 13 6 70
Cild12 57 12 72
Primary Ciliary Dyskinesia 12 Without Situs Inversus 12 72
Ciliary Dyskinesia, Primary, 12, Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, Type 12 39
Primary Ciliary Dyskinesia 12 12
Immotile Cilia Syndrome 12 72
Ics12 72

Characteristics:

HPO:

31
ciliary dyskinesia, primary, 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110601
OMIM® 57 612650
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C2675228
UMLS 70 C2675228

Summaries for Ciliary Dyskinesia, Primary, 12

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 12: 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, 12, also known as cild12, is related to ciliary dyskinesia, primary, 1 and kartagener syndrome. An important gene associated with Ciliary Dyskinesia, Primary, 12 is RSPH9 (Radial Spoke Head Component 9). Related phenotypes are recurrent respiratory infections and short stature

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has material basis in homozygous mutation in the RSPH9 gene on chromosome 6p21.

More information from OMIM: 612650 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 12

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, Primary, 44
Ciliary Dyskinesia, Primary, 45 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 12 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1 9.6 RSPH9 POLR1C
2 kartagener syndrome 9.6 RSPH9 POLR1C
3 primary ciliary dyskinesia 9.5 RSPH9 POLR1C

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 12

Human phenotypes related to Ciliary Dyskinesia, Primary, 12:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 short stature 31 HP:0004322
3 bronchiectasis 31 HP:0002110
4 ciliary dyskinesia 31 HP:0012265
5 chronic rhinitis 31 HP:0002257
6 exercise intolerance 31 HP:0003546
7 chronic sinusitis 31 HP:0011109
8 immotile sperm 31 HP:0012208
9 abnormal central microtubular pair morphology of respiratory motile cilia 31 HP:0012260

Clinical features from OMIM®:

612650 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 12

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 12

Genetic Tests for Ciliary Dyskinesia, Primary, 12

Genetic tests related to Ciliary Dyskinesia, Primary, 12:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 12 29 RSPH9

Anatomical Context for Ciliary Dyskinesia, Primary, 12

Publications for Ciliary Dyskinesia, Primary, 12

Articles related to Ciliary Dyskinesia, Primary, 12:

# Title Authors PMID Year
1
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. 6 57
23993197 2013
2
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. 6 57
19200523 2009
3
From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula. 6
22384920 2012
4
Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. 57
20070851 2010
5
HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome. 57
1601418 1992

Variations for Ciliary Dyskinesia, Primary, 12

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 12:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR1C , RSPH9 NM_152732.5(RSPH9):c.466C>T (p.Arg156Ter) SNV Pathogenic 502312 rs376496894 GRCh37: 6:43623371-43623371
GRCh38: 6:43655634-43655634
2 POLR1C , RSPH9 NM_152732.5(RSPH9):c.801_803GAA[1] (p.Lys268del) Microsatellite Pathogenic 66994 rs397515340 GRCh37: 6:43638655-43638657
GRCh38: 6:43670918-43670920
3 POLR1C , RSPH9 NM_152732.5(RSPH9):c.393+2del Deletion Pathogenic 1031683 GRCh37: 6:43618279-43618279
GRCh38: 6:43650542-43650542
4 POLR1C , RSPH9 NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter) SNV Pathogenic 66995 rs397515488 GRCh37: 6:43612887-43612887
GRCh38: 6:43645150-43645150
5 POLR1C , RSPH9 NM_152732.5(RSPH9):c.146G>T (p.Arg49Leu) SNV Uncertain significance 910838 GRCh37: 6:43612981-43612981
GRCh38: 6:43645244-43645244
6 POLR1C , RSPH9 NM_152732.5(RSPH9):c.112G>T (p.Asp38Tyr) SNV Uncertain significance 910837 GRCh37: 6:43612947-43612947
GRCh38: 6:43645210-43645210
7 POLR1C , RSPH9 NM_152732.5(RSPH9):c.798C>T (p.Gly266=) SNV Uncertain significance 216823 rs770913202 GRCh37: 6:43638653-43638653
GRCh38: 6:43670916-43670916
8 POLR1C , RSPH9 NM_152732.5(RSPH9):c.598A>G (p.Thr200Ala) SNV Uncertain significance 357019 rs886061478 GRCh37: 6:43624388-43624388
GRCh38: 6:43656651-43656651
9 POLR1C , RSPH9 NM_152732.5(RSPH9):c.385G>A (p.Glu129Lys) SNV Uncertain significance 357017 rs886061477 GRCh37: 6:43618269-43618269
GRCh38: 6:43650532-43650532
10 POLR1C , RSPH9 NM_152732.5(RSPH9):c.819C>T (p.Pro273=) SNV Uncertain significance 357020 rs79412180 GRCh37: 6:43638674-43638674
GRCh38: 6:43670937-43670937
11 POLR1C , RSPH9 NM_152732.5(RSPH9):c.276G>A (p.Met92Ile) SNV Uncertain significance 357016 rs147713380 GRCh37: 6:43618160-43618160
GRCh38: 6:43650423-43650423
12 POLR1C , RSPH9 NM_152732.5(RSPH9):c.512G>A (p.Arg171Gln) SNV Uncertain significance 357018 rs201032669 GRCh37: 6:43623417-43623417
GRCh38: 6:43655680-43655680
13 POLR1C , RSPH9 NM_152732.5(RSPH9):c.648C>A (p.Ser216=) SNV Uncertain significance 908041 GRCh37: 6:43624438-43624438
GRCh38: 6:43656701-43656701
14 POLR1C , RSPH9 NM_152732.5(RSPH9):c.760C>T (p.Arg254Cys) SNV Uncertain significance 454994 rs200193470 GRCh37: 6:43638615-43638615
GRCh38: 6:43670878-43670878
15 POLR1C , RSPH9 NM_152732.5(RSPH9):c.787G>A (p.Val263Met) SNV Uncertain significance 908042 GRCh37: 6:43638642-43638642
GRCh38: 6:43670905-43670905
16 POLR1C , RSPH9 NM_152732.5(RSPH9):c.804G>C (p.Lys268Asn) SNV Uncertain significance 908043 GRCh37: 6:43638659-43638659
GRCh38: 6:43670922-43670922
17 POLR1C , RSPH9 NM_152732.5(RSPH9):c.806A>T (p.Asn269Ile) SNV Uncertain significance 908044 GRCh37: 6:43638661-43638661
GRCh38: 6:43670924-43670924
18 POLR1C , RSPH9 NM_152732.5(RSPH9):c.*13C>A SNV Uncertain significance 909997 GRCh37: 6:43638699-43638699
GRCh38: 6:43670962-43670962
19 POLR1C , RSPH9 NM_152732.5(RSPH9):c.393+13G>A SNV Uncertain significance 912058 GRCh37: 6:43618290-43618290
GRCh38: 6:43650553-43650553
20 POLR1C , RSPH9 NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys) SNV Uncertain significance 220293 rs368519003 GRCh37: 6:43623320-43623320
GRCh38: 6:43655583-43655583
21 POLR1C , RSPH9 NM_152732.5(RSPH9):c.421G>A (p.Val141Met) SNV Uncertain significance 165063 rs2295947 GRCh37: 6:43623326-43623326
GRCh38: 6:43655589-43655589
22 POLR1C , RSPH9 NM_152732.5(RSPH9):c.263C>T (p.Ala88Val) SNV Likely benign 241994 rs35110984 GRCh37: 6:43618147-43618147
GRCh38: 6:43650410-43650410
23 POLR1C , RSPH9 NM_152732.5(RSPH9):c.-18A>G SNV Benign 262684 rs59110261 GRCh37: 6:43612818-43612818
GRCh38: 6:43645081-43645081
24 POLR1C , RSPH9 NM_152732.5(RSPH9):c.781G>A (p.Val261Ile) SNV Benign 165065 rs16896629 GRCh37: 6:43638636-43638636
GRCh38: 6:43670899-43670899

Expression for Ciliary Dyskinesia, Primary, 12

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 12.

Pathways for Ciliary Dyskinesia, Primary, 12

GO Terms for Ciliary Dyskinesia, Primary, 12

Sources for Ciliary Dyskinesia, Primary, 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
70 UMLS
71 UMLS via Orphanet
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