CILD37
MCID: CLR123
MIFTS: 26

Ciliary Dyskinesia, Primary, 37 (CILD37)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 37

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 37:

Name: Ciliary Dyskinesia, Primary, 37 56 73 29 6
Ciliary Dyskinesia, Primary, 37, with or Without Situs Inversus 56 73
Cild37 56 73
Primary Ciliary Dyskinesia 37 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
ciliary dyskinesia, primary, 37:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 37

UniProtKB/Swiss-Prot : 73 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). Related phenotypes are hypothyroidism and hearing impairment

More information from OMIM: 617577 PS244400

Related Diseases for Ciliary Dyskinesia, Primary, 37

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 37

Human phenotypes related to Ciliary Dyskinesia, Primary, 37:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 HP:0000821
2 hearing impairment 31 HP:0000365
3 goiter 31 HP:0000853
4 infertility 31 HP:0000789
5 situs inversus totalis 31 HP:0001696
6 bronchiectasis 31 HP:0002110
7 chronic rhinitis 31 HP:0002257
8 wheezing 31 HP:0030828
9 rhinorrhea 31 HP:0031417
10 right aortic arch 31 HP:0012020

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
hypothyroidism
colloid goiter with cystic degeneration

Cardiovascular Heart:
dextrocardia

Head And Neck Nose:
chronic rhinitis
nasal discharge

Cardiovascular Vascular:
right-sided aortic arch

Respiratory Airways:
frequent coughing
frequent wheezing

Genitourinary Internal Genitalia Female:
infertility

Respiratory Lung:
bronchiectasis

Abdomen:
situs inversus

Head And Neck Ears:
hearing loss, mild conductive

Abdomen Gastrointestinal:
right-sided stomach

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 DNAH1

Anatomical Context for Ciliary Dyskinesia, Primary, 37

Publications for Ciliary Dyskinesia, Primary, 37

Articles related to Ciliary Dyskinesia, Primary, 37:

# Title Authors PMID Year
1
Variation in DNAH1 may contribute to primary ciliary dyskinesia. 56 6
25927852 2015
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
5
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 37

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

6 (show top 50) (show all 243) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAH1 NM_015512.5(DNAH1):c.7074dup (p.Arg2359fs)duplication Pathogenic 478376 rs762545991 3:52409343-52409344 3:52375327-52375328
2 DNAH1 NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)SNV Pathogenic 209005 rs544674332 3:52387629-52387629 3:52353613-52353613
3 DNAH1 NM_015512.5(DNAH1):c.1912_1913insGG (p.Asp638fs)insertion Pathogenic 478375 rs557979163 3:52380742-52380743 3:52346726-52346727
4 DNAH1 NM_015512.5(DNAH1):c.7676del (p.Val2559fs)deletion Pathogenic 544627 rs765417610 3:52415723-52415723 3:52381707-52381707
5 DNAH1 NM_015512.5(DNAH1):c.1941_1944del (p.Asn648fs)deletion Pathogenic 544604 rs1297408310 3:52380772-52380775 3:52346756-52346759
6 DNAH1 NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter)SNV Pathogenic 544605 rs200416242 3:52428490-52428490 3:52394474-52394474
7 DNAH1 NM_015512.5(DNAH1):c.10464_10465AG[2] (p.Arg3490fs)short repeat Pathogenic 578911 rs759646845 3:52427031-52427034 3:52393015-52393018
8 DNAH1 NM_015512.5(DNAH1):c.5104C>T (p.Arg1702Ter)SNV Pathogenic 568905 rs766323732 3:52397020-52397020 3:52363004-52363004
9 DNAH1 NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter)SNV Pathogenic 645523 3:52423591-52423591 3:52389575-52389575
10 DNAH1 NM_015512.5(DNAH1):c.9625G>A (p.Ala3209Thr)SNV Uncertain significance 651959 3:52424954-52424954 3:52390938-52390938
11 DNAH1 NM_015512.5(DNAH1):c.10070T>G (p.Leu3357Arg)SNV Uncertain significance 641085 3:52426497-52426497 3:52392481-52392481
12 DNAH1 NM_015512.5(DNAH1):c.10151G>A (p.Arg3384His)SNV Uncertain significance 639724 3:52426578-52426578 3:52392562-52392562
13 DNAH1 NM_015512.5(DNAH1):c.10172A>C (p.Glu3391Ala)SNV Uncertain significance 654319 3:52426599-52426599 3:52392583-52392583
14 DNAH1 NM_015512.5(DNAH1):c.10306G>C (p.Glu3436Gln)SNV Uncertain significance 650812 3:52426873-52426873 3:52392857-52392857
15 DNAH1 NM_015512.5(DNAH1):c.10562A>G (p.His3521Arg)SNV Uncertain significance 664434 3:52427437-52427437 3:52393421-52393421
16 DNAH1 NM_015512.5(DNAH1):c.11063A>G (p.Tyr3688Cys)SNV Uncertain significance 662165 3:52429418-52429418 3:52395402-52395402
17 DNAH1 NM_015512.5(DNAH1):c.11284C>T (p.Leu3762Phe)SNV Uncertain significance 652507 3:52430408-52430408 3:52396392-52396392
18 DNAH1 NM_015512.5(DNAH1):c.11528A>G (p.Tyr3843Cys)SNV Uncertain significance 662637 3:52430731-52430731 3:52396715-52396715
19 DNAH1 NM_015512.5(DNAH1):c.11573A>G (p.Lys3858Arg)SNV Uncertain significance 665988 3:52430776-52430776 3:52396760-52396760
20 DNAH1 NM_015512.5(DNAH1):c.11683A>G (p.Met3895Val)SNV Uncertain significance 645643 3:52430956-52430956 3:52396940-52396940
21 DNAH1 NM_015512.5(DNAH1):c.11861A>C (p.Asn3954Thr)SNV Uncertain significance 647350 3:52431796-52431796 3:52397780-52397780
22 DNAH1 NM_015512.5(DNAH1):c.12058A>G (p.Met4020Val)SNV Uncertain significance 646339 3:52432147-52432147 3:52398131-52398131
23 DNAH1 NM_015512.5(DNAH1):c.12228T>A (p.Ser4076Arg)SNV Uncertain significance 639629 3:52433004-52433004 3:52398988-52398988
24 DNAH1 NM_015512.5(DNAH1):c.12595T>C (p.Trp4199Arg)SNV Uncertain significance 650289 3:52433714-52433714 3:52399698-52399698
25 DNAH1 NM_015512.5(DNAH1):c.12617G>A (p.Arg4206His)SNV Uncertain significance 657715 3:52433736-52433736 3:52399720-52399720
26 DNAH1 NM_015512.5(DNAH1):c.5311G>A (p.Glu1771Lys)SNV Uncertain significance 569713 rs1479169341 3:52398720-52398720 3:52364704-52364704
27 DNAH1 NM_015512.5(DNAH1):c.5439G>A (p.Lys1813=)SNV Uncertain significance 572347 rs1559533989 3:52398956-52398956 3:52364940-52364940
28 DNAH1 NM_015512.5(DNAH1):c.7795G>A (p.Ala2599Thr)SNV Uncertain significance 583072 rs377213436 3:52415842-52415842 3:52381826-52381826
29 DNAH1 NM_015512.5(DNAH1):c.8048G>A (p.Arg2683Gln)SNV Uncertain significance 573945 rs77451372 3:52417508-52417508 3:52383492-52383492
30 DNAH1 NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys)SNV Uncertain significance 569725 rs200784189 3:52425267-52425267 3:52391251-52391251
31 DNAH1 NM_015512.5(DNAH1):c.9893C>T (p.Thr3298Met)SNV Uncertain significance 578116 rs558196088 3:52425460-52425460 3:52391444-52391444
32 DNAH1 NM_015512.5(DNAH1):c.241C>T (p.Pro81Ser)SNV Uncertain significance 653593 3:52356699-52356699 3:52322683-52322683
33 DNAH1 NM_015512.5(DNAH1):c.647A>G (p.Asn216Ser)SNV Uncertain significance 643488 3:52360816-52360816 3:52326800-52326800
34 DNAH1 NM_015512.5(DNAH1):c.691A>G (p.Ile231Val)SNV Uncertain significance 652700 3:52360860-52360860 3:52326844-52326844
35 DNAH1 NM_015512.5(DNAH1):c.1003C>G (p.Pro335Ala)SNV Uncertain significance 658740 3:52365295-52365295 3:52331279-52331279
36 DNAH1 NM_015512.5(DNAH1):c.1030G>A (p.Glu344Lys)SNV Uncertain significance 658690 3:52365322-52365322 3:52331306-52331306
37 DNAH1 NM_015512.5(DNAH1):c.1093G>A (p.Ala365Thr)SNV Uncertain significance 655289 3:52366217-52366217 3:52332201-52332201
38 DNAH1 NM_015512.5(DNAH1):c.1145G>A (p.Arg382His)SNV Uncertain significance 664364 3:52366269-52366269 3:52332253-52332253
39 DNAH1 NM_015512.5(DNAH1):c.1162C>A (p.Leu388Met)SNV Uncertain significance 646875 3:52366286-52366286 3:52332270-52332270
40 DNAH1 NM_015512.5(DNAH1):c.1265C>T (p.Pro422Leu)SNV Uncertain significance 661792 3:52366389-52366389 3:52332373-52332373
41 DNAH1 NM_015512.5(DNAH1):c.1532C>T (p.Thr511Met)SNV Uncertain significance 662067 3:52379598-52379598 3:52345582-52345582
42 DNAH1 NM_015512.5(DNAH1):c.1610G>A (p.Ser537Asn)SNV Uncertain significance 658618 3:52379676-52379676 3:52345660-52345660
43 DNAH1 NM_015512.5(DNAH1):c.1709G>A (p.Arg570His)SNV Uncertain significance 654454 3:52380540-52380540 3:52346524-52346524
44 DNAH1 NM_015512.5(DNAH1):c.2365G>A (p.Glu789Lys)SNV Uncertain significance 644717 3:52383275-52383275 3:52349259-52349259
45 DNAH1 NM_015512.5(DNAH1):c.2512A>G (p.Lys838Glu)SNV Uncertain significance 645828 3:52383422-52383422 3:52349406-52349406
46 DNAH1 NM_015512.5(DNAH1):c.2555G>A (p.Arg852His)SNV Uncertain significance 641048 3:52384033-52384033 3:52350017-52350017
47 DNAH1 NM_015512.5(DNAH1):c.2564A>G (p.Tyr855Cys)SNV Uncertain significance 656625 3:52384042-52384042 3:52350026-52350026
48 DNAH1 NM_015512.5(DNAH1):c.3260G>A (p.Arg1087His)SNV Uncertain significance 649146 3:52387429-52387429 3:52353413-52353413
49 DNAH1 NM_015512.5(DNAH1):c.3426C>G (p.Ile1142Met)SNV Uncertain significance 658790 3:52387595-52387595 3:52353579-52353579
50 DNAH1 NM_015512.5(DNAH1):c.3436A>T (p.Ser1146Cys)SNV Uncertain significance 639993 3:52387605-52387605 3:52353589-52353589

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

73
# Symbol AA change Variation ID SNP ID
1 DNAH1 p.Lys1154Gln VAR_079510 rs544674332

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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