CILD34
MCID: CLR124
MIFTS: 18

Ciliary Dyskinesia, Primary, 34 (CILD34)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 34

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 34:

Name: Ciliary Dyskinesia, Primary, 34 57 75 29 6
Cild34 57 12 75
Ciliary Dyskinesia, Primary, 34, Without Situs Inversus 57
Primary Ciliary Dyskinesia 34 Without Situs Inversus 12
Primary Ciliary Dyskinesia 34 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
no laterality defects
three patients from 2 unrelated families have been reported (last curated august 2016)


HPO:

32
ciliary dyskinesia, primary, 34:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617091
Disease Ontology 12 DOID:0110610
MeSH 44 D007619
SNOMED-CT via HPO 69 258211005 15296000 8619003

Summaries for Ciliary Dyskinesia, Primary, 34

OMIM : 57 Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (617091)

MalaCards based summary : Ciliary Dyskinesia, Primary, 34, is also known as cild34. An important gene associated with Ciliary Dyskinesia, Primary, 34 is DNAJB13 (DnaJ Heat Shock Protein Family (Hsp40) Member B13). Related phenotype is infertility.

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has material basis in homozygous mutation in the DNAJB13 gene on chromosome 11q13.

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 34: A form of primary ciliary dyskinesia, 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. CILD34 inheritance is autosomal recessive.

Related Diseases for Ciliary Dyskinesia, Primary, 34

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 34

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
decreased nasal nitric oxide
decreased ciliary beating frequency
abnormal ciliary beating pattern
increased percentage of cilia lacking central microtubules (9 + 0 pattern)

Genitourinary External Genitalia Male:
infertility due to impaired sperm motility
decreased sperm count
decreased sperm viability

Respiratory:
recurrent sinopulmonary infections due to impaired ciliary function


Clinical features from OMIM:

617091

Human phenotypes related to Ciliary Dyskinesia, Primary, 34:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 34

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 34

Genetic Tests for Ciliary Dyskinesia, Primary, 34

Genetic tests related to Ciliary Dyskinesia, Primary, 34:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 34 29 DNAJB13

Anatomical Context for Ciliary Dyskinesia, Primary, 34

Publications for Ciliary Dyskinesia, Primary, 34

Variations for Ciliary Dyskinesia, Primary, 34

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 34:

75
# Symbol AA change Variation ID SNP ID
1 DNAJB13 p.Met278Arg VAR_077053 rs754776389

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 34:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJB13 NM_153614.3(DNAJB13): c.833T> G (p.Met278Arg) single nucleotide variant Pathogenic rs754776389 GRCh37 Chromosome 11, 73681041: 73681041
2 DNAJB13 NM_153614.3(DNAJB13): c.833T> G (p.Met278Arg) single nucleotide variant Pathogenic rs754776389 GRCh38 Chromosome 11, 73969996: 73969996
3 DNAJB13 NM_153614.3(DNAJB13): c.68+1G> C single nucleotide variant Pathogenic rs775700619 GRCh38 Chromosome 11, 73951138: 73951138
4 DNAJB13 NM_153614.3(DNAJB13): c.68+1G> C single nucleotide variant Pathogenic rs775700619 GRCh37 Chromosome 11, 73662183: 73662183
5 DNAJB13 NM_153614.3(DNAJB13): c.173-1G> A single nucleotide variant not provided GRCh38 Chromosome 11, 73959493: 73959493
6 DNAJB13 NM_153614.3(DNAJB13): c.173-1G> A single nucleotide variant not provided GRCh37 Chromosome 11, 73670538: 73670538

Expression for Ciliary Dyskinesia, Primary, 34

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 34.

Pathways for Ciliary Dyskinesia, Primary, 34

GO Terms for Ciliary Dyskinesia, Primary, 34

Sources for Ciliary Dyskinesia, Primary, 34

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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