CILD12
MCID: CLR054
MIFTS: 22

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 58 76 30 13 6 74
Cild12 58 12 76
Primary Ciliary Dyskinesia 12 Without Situs Inversus 12 76
Ciliary Dyskinesia, Primary, 12, Without Situs Inversus 58
Dyskinesia, Ciliary, Primary, Type 12 41
Primary Ciliary Dyskinesia 12 12
Immotile Cilia Syndrome 12 76
Ics12 76

Characteristics:

HPO:

33
ciliary dyskinesia, primary, 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110601
OMIM 58 612650
MeSH 45 D007619
ICD10 34 Q34.8
MedGen 43 C2675228
UMLS 74 C2675228

Summaries for Ciliary Dyskinesia, Primary, 12

UniProtKB/Swiss-Prot : 76 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 kartagener syndrome. An important gene associated with Ciliary Dyskinesia, Primary, 12 is RSPH9 (Radial Spoke Head 9 Homolog). 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.

Description from OMIM: 612650

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, 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 kartagener syndrome 9.5 MRPS18A RSPH9

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 12

Human phenotypes related to Ciliary Dyskinesia, Primary, 12:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 33 HP:0002205
2 short stature 33 HP:0004322
3 exercise intolerance 33 HP:0003546
4 bronchiectasis 33 HP:0002110
5 chronic rhinitis 33 HP:0002257
6 chronic sinusitis 33 HP:0011109
7 ciliary dyskinesia 33 HP:0012265
8 nonmotile sperm 33 HP:0012208
9 abnormal central microtubular pair morphology of respiratory motile cilia 33 HP:0012260

Clinical features from OMIM:

612650

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 30 RSPH9

Anatomical Context for Ciliary Dyskinesia, Primary, 12

Publications for Ciliary Dyskinesia, Primary, 12

Variations for Ciliary Dyskinesia, Primary, 12

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPH9 NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del) deletion Pathogenic rs397515340 GRCh37 Chromosome 6, 43638659: 43638661
2 RSPH9 NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del) deletion Pathogenic rs397515340 GRCh38 Chromosome 6, 43670922: 43670924
3 RSPH9 NM_152732.4(RSPH9): c.52C> T (p.Gln18Ter) single nucleotide variant Pathogenic rs397515488 GRCh37 Chromosome 6, 43612887: 43612887
4 RSPH9 NM_152732.4(RSPH9): c.52C> T (p.Gln18Ter) single nucleotide variant Pathogenic rs397515488 GRCh38 Chromosome 6, 43645150: 43645150

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....