MCID: CLR123
MIFTS: 16

Ciliary Dyskinesia, Primary, 37

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 37

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 37:

Name: Ciliary Dyskinesia, Primary, 37 57 75 29 6
Ciliary Dyskinesia, Primary, 37, with or Without Situs Inversus 57 75
Cild37 57 75
Primary Ciliary Dyskinesia 37 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 sisters (last curated july 2017)


Classifications:



External Ids:

OMIM 57 617577
Disease Ontology 12 DOID:0080266
MeSH 44 D007619

Summaries for Ciliary Dyskinesia, Primary, 37

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 37: 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. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD37 inheritance is autosomal recessive.

MalaCards based summary : Ciliary Dyskinesia, Primary, 37, is also known as ciliary dyskinesia, primary, 37, with or without situs inversus. An important gene associated with Ciliary Dyskinesia, Primary, 37 is DNAH1 (Dynein Axonemal Heavy Chain 1).

Description from OMIM: 617577

Related Diseases for Ciliary Dyskinesia, Primary, 37

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 37

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, mild conductive

Head And Neck Neck:
colloid goiter with cystic degeneration
hypothyroidism

Cardiovascular Vascular:
right-sided aortic arch

Respiratory Lung:
bronchiectasis

Abdomen Gastrointestinal:
right-sided stomach

Head And Neck Nose:
chronic rhinitis
nasal discharge

Cardiovascular Heart:
dextrocardia

Respiratory Airways:
frequent coughing
frequent wheezing

Abdomen:
situs inversus

Genitourinary Internal Genitalia Female:
infertility


Clinical features from OMIM:

617577

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 37

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 37

Genetic Tests for Ciliary Dyskinesia, Primary, 37

Genetic tests related to Ciliary Dyskinesia, Primary, 37:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 37 29

Anatomical Context for Ciliary Dyskinesia, Primary, 37

Publications for Ciliary Dyskinesia, Primary, 37

Variations for Ciliary Dyskinesia, Primary, 37

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 37:

75
# Symbol AA change Variation ID SNP ID
1 DNAH1 p.Lys1154Gln VAR_079510

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 37:

6
(show top 50) (show all 464)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh37 Chromosome 3, 52387629: 52387629
2 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh38 Chromosome 3, 52353613: 52353613
3 DNAH1 NM_015512.4(DNAH1): c.1351A> G (p.Lys451Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs76591348 GRCh37 Chromosome 3, 52378570: 52378570
4 DNAH1 NM_015512.4(DNAH1): c.1351A> G (p.Lys451Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs76591348 GRCh38 Chromosome 3, 52344554: 52344554
5 DNAH1 NM_015512.4(DNAH1): c.569T> C (p.Ile190Thr) single nucleotide variant Benign rs61729450 GRCh37 Chromosome 3, 52360318: 52360318
6 DNAH1 NM_015512.4(DNAH1): c.569T> C (p.Ile190Thr) single nucleotide variant Benign rs61729450 GRCh38 Chromosome 3, 52326302: 52326302
7 DNAH1 NM_015512.4(DNAH1): c.1172A> G (p.Tyr391Cys) single nucleotide variant Benign rs181418923 GRCh37 Chromosome 3, 52366296: 52366296
8 DNAH1 NM_015512.4(DNAH1): c.1172A> G (p.Tyr391Cys) single nucleotide variant Benign rs181418923 GRCh38 Chromosome 3, 52332280: 52332280
9 DNAH1 NM_015512.4(DNAH1): c.1789C> T (p.Arg597Cys) single nucleotide variant Benign rs61734654 GRCh37 Chromosome 3, 52380620: 52380620
10 DNAH1 NM_015512.4(DNAH1): c.1789C> T (p.Arg597Cys) single nucleotide variant Benign rs61734654 GRCh38 Chromosome 3, 52346604: 52346604
11 DNAH1 NM_015512.4(DNAH1): c.1912G> A (p.Asp638Asn) single nucleotide variant Likely benign rs201988957 GRCh37 Chromosome 3, 52380743: 52380743
12 DNAH1 NM_015512.4(DNAH1): c.1912G> A (p.Asp638Asn) single nucleotide variant Likely benign rs201988957 GRCh38 Chromosome 3, 52346727: 52346727
13 DNAH1 NM_015512.4(DNAH1): c.1960C> T (p.Arg654Trp) single nucleotide variant Uncertain significance rs755225053 GRCh37 Chromosome 3, 52381844: 52381844
14 DNAH1 NM_015512.4(DNAH1): c.1960C> T (p.Arg654Trp) single nucleotide variant Uncertain significance rs755225053 GRCh38 Chromosome 3, 52347828: 52347828
15 DNAH1 NM_015512.4(DNAH1): c.1981A> G (p.Met661Val) single nucleotide variant Benign rs61734653 GRCh37 Chromosome 3, 52381865: 52381865
16 DNAH1 NM_015512.4(DNAH1): c.1981A> G (p.Met661Val) single nucleotide variant Benign rs61734653 GRCh38 Chromosome 3, 52347849: 52347849
17 DNAH1 NM_015512.4(DNAH1): c.2576A> G (p.Asn859Ser) single nucleotide variant Uncertain significance rs200428788 GRCh37 Chromosome 3, 52384054: 52384054
18 DNAH1 NM_015512.4(DNAH1): c.2576A> G (p.Asn859Ser) single nucleotide variant Uncertain significance rs200428788 GRCh38 Chromosome 3, 52350038: 52350038
19 DNAH1 NM_015512.4(DNAH1): c.3392C> A (p.Ala1131Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 52353545: 52353545
20 DNAH1 NM_015512.4(DNAH1): c.3392C> A (p.Ala1131Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 52387561: 52387561
21 DNAH1 NM_015512.4(DNAH1): c.3694-4C> G single nucleotide variant Benign rs550254957 GRCh37 Chromosome 3, 52390626: 52390626
22 DNAH1 NM_015512.4(DNAH1): c.3694-4C> G single nucleotide variant Benign rs550254957 GRCh38 Chromosome 3, 52356610: 52356610
23 DNAH1 NM_015512.4(DNAH1): c.4005A> G (p.Glu1335=) single nucleotide variant Likely benign GRCh38 Chromosome 3, 52357922: 52357922
24 DNAH1 NM_015512.4(DNAH1): c.4005A> G (p.Glu1335=) single nucleotide variant Likely benign GRCh37 Chromosome 3, 52391938: 52391938
25 DNAH1 NM_015512.4(DNAH1): c.5669G> T (p.Gly1890Val) single nucleotide variant Benign rs200859252 GRCh38 Chromosome 3, 52366791: 52366791
26 DNAH1 NM_015512.4(DNAH1): c.5669G> T (p.Gly1890Val) single nucleotide variant Benign rs200859252 GRCh37 Chromosome 3, 52400807: 52400807
27 DNAH1 NM_015512.4(DNAH1): c.6002C> T (p.Ser2001Phe) single nucleotide variant Uncertain significance rs772200369 GRCh38 Chromosome 3, 52369883: 52369883
28 DNAH1 NM_015512.4(DNAH1): c.6002C> T (p.Ser2001Phe) single nucleotide variant Uncertain significance rs772200369 GRCh37 Chromosome 3, 52403899: 52403899
29 DNAH1 NM_015512.4(DNAH1): c.7074dup (p.Arg2359Alafs) duplication Pathogenic GRCh38 Chromosome 3, 52375328: 52375328
30 DNAH1 NM_015512.4(DNAH1): c.7074dup (p.Arg2359Alafs) duplication Pathogenic GRCh37 Chromosome 3, 52409344: 52409344
31 DNAH1 NM_015512.4(DNAH1): c.7109A> C (p.Asp2370Ala) single nucleotide variant Likely benign rs202011102 GRCh37 Chromosome 3, 52409379: 52409379
32 DNAH1 NM_015512.4(DNAH1): c.7109A> C (p.Asp2370Ala) single nucleotide variant Likely benign rs202011102 GRCh38 Chromosome 3, 52375363: 52375363
33 DNAH1 NM_015512.4(DNAH1): c.8266G> A (p.Val2756Met) single nucleotide variant Benign rs61749019 GRCh37 Chromosome 3, 52417991: 52417991
34 DNAH1 NM_015512.4(DNAH1): c.8266G> A (p.Val2756Met) single nucleotide variant Benign rs61749019 GRCh38 Chromosome 3, 52383975: 52383975
35 DNAH1 NM_015512.4(DNAH1): c.8649G> C (p.Glu2883Asp) single nucleotide variant Likely benign rs79689614 GRCh38 Chromosome 3, 52386183: 52386183
36 DNAH1 NM_015512.4(DNAH1): c.8649G> C (p.Glu2883Asp) single nucleotide variant Likely benign rs79689614 GRCh37 Chromosome 3, 52420199: 52420199
37 DNAH1 NM_015512.4(DNAH1): c.9121C> T (p.Arg3041Cys) single nucleotide variant Benign rs61731638 GRCh38 Chromosome 3, 52388284: 52388284
38 DNAH1 NM_015512.4(DNAH1): c.9121C> T (p.Arg3041Cys) single nucleotide variant Benign rs61731638 GRCh37 Chromosome 3, 52422300: 52422300
39 DNAH1 NM_015512.4(DNAH1): c.9622-6C> T single nucleotide variant Uncertain significance rs946083803 GRCh38 Chromosome 3, 52390929: 52390929
40 DNAH1 NM_015512.4(DNAH1): c.9622-6C> T single nucleotide variant Uncertain significance rs946083803 GRCh37 Chromosome 3, 52424945: 52424945
41 DNAH1 NM_015512.4(DNAH1): c.9646C> G (p.Leu3216Val) single nucleotide variant Uncertain significance rs200158571 GRCh37 Chromosome 3, 52424975: 52424975
42 DNAH1 NM_015512.4(DNAH1): c.9646C> G (p.Leu3216Val) single nucleotide variant Uncertain significance rs200158571 GRCh38 Chromosome 3, 52390959: 52390959
43 DNAH1 NM_015512.4(DNAH1): c.9783C> T (p.Arg3261=) single nucleotide variant Benign rs61733865 GRCh37 Chromosome 3, 52425236: 52425236
44 DNAH1 NM_015512.4(DNAH1): c.9783C> T (p.Arg3261=) single nucleotide variant Benign rs61733865 GRCh38 Chromosome 3, 52391220: 52391220
45 DNAH1 NM_015512.4(DNAH1): c.9807C> T (p.Asn3269=) single nucleotide variant Benign rs199553284 GRCh38 Chromosome 3, 52391244: 52391244
46 DNAH1 NM_015512.4(DNAH1): c.9807C> T (p.Asn3269=) single nucleotide variant Benign rs199553284 GRCh37 Chromosome 3, 52425260: 52425260
47 DNAH1 NM_015512.4(DNAH1): c.10071A> G (p.Leu3357=) single nucleotide variant Likely benign rs554676148 GRCh37 Chromosome 3, 52426498: 52426498
48 DNAH1 NM_015512.4(DNAH1): c.10071A> G (p.Leu3357=) single nucleotide variant Likely benign rs554676148 GRCh38 Chromosome 3, 52392482: 52392482
49 DNAH1 NM_015512.4(DNAH1): c.10216G> A (p.Val3406Ile) single nucleotide variant Likely benign rs201752275 GRCh38 Chromosome 3, 52392627: 52392627
50 DNAH1 NM_015512.4(DNAH1): c.10216G> A (p.Val3406Ile) single nucleotide variant Likely benign rs201752275 GRCh37 Chromosome 3, 52426643: 52426643

Expression for Ciliary Dyskinesia, Primary, 37

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 37.

Pathways for Ciliary Dyskinesia, Primary, 37

GO Terms for Ciliary Dyskinesia, Primary, 37

Sources for Ciliary Dyskinesia, Primary, 37

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