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 57 73 29 6
Ciliary Dyskinesia, Primary, 37, with or Without Situs Inversus 57 73
Cild37 57 73
Primary Ciliary Dyskinesia 37 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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

Disease Ontology : 12 A primary ciliary dyskinesia that has material basis in homozygous mutation in the DNAH1 gene on chromosome 3p21.

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 infertility 31 HP:0000789
4 goiter 31 HP:0000853
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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. 57 6
25927852 2015

Variations for Ciliary Dyskinesia, Primary, 37

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

6 (show top 50) (show all 535)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAH1 NM_015512.5(DNAH1):c.1912_1913insGG (p.Asp638fs) Insertion Pathogenic 478375 rs557979163 3:52380742-52380743 3:52346726-52346727
2 DNAH1 NM_015512.5(DNAH1):c.7074dup (p.Arg2359fs) Duplication Pathogenic 478376 rs762545991 3:52409343-52409344 3:52375327-52375328
3 DNAH1 NM_015512.5(DNAH1):c.1941_1944del (p.Asn648fs) Deletion Pathogenic 544604 rs1297408310 3:52380772-52380775 3:52346756-52346759
4 DNAH1 NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter) SNV Pathogenic 544605 rs200416242 3:52428490-52428490 3:52394474-52394474
5 DNAH1 NM_015512.5(DNAH1):c.7676del (p.Val2559fs) Deletion Pathogenic 544627 rs765417610 3:52415723-52415723 3:52381707-52381707
6 DNAH1 NM_015512.5(DNAH1):c.5104C>T (p.Arg1702Ter) SNV Pathogenic 568905 rs766323732 3:52397020-52397020 3:52363004-52363004
7 DNAH1 NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter) SNV Pathogenic 645523 rs759727960 3:52423591-52423591 3:52389575-52389575
8 DNAH1 NM_015512.5(DNAH1):c.10464_10465AG[2] (p.Arg3490fs) Microsatellite Pathogenic 578911 rs759646845 3:52427031-52427034 3:52393015-52393018
9 DNAH1 NM_015512.5(DNAH1):c.436del (p.Gln146fs) Deletion Pathogenic 856113 3:52360184-52360184 3:52326168-52326168
10 DNAH1 NM_015512.5(DNAH1):c.10002del (p.Glu3336fs) Deletion Pathogenic 946368 3:52425569-52425569 3:52391553-52391553
11 DNAH1 NM_015512.5(DNAH1):c.9340C>T (p.Gln3114Ter) SNV Pathogenic 869369 3:52422602-52422602 3:52388586-52388586
12 DNAH1 NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln) SNV Pathogenic 209005 rs544674332 3:52387629-52387629 3:52353613-52353613
13 DNAH1 NM_015512.5(DNAH1):c.11610G>C (p.Lys3870Asn) SNV Likely pathogenic 869370 3:52430813-52430813 3:52396797-52396797
14 DNAH1 NM_015512.5(DNAH1):c.5244+1G>A SNV Likely pathogenic 950848 3:52397161-52397161 3:52363145-52363145
15 DNAH1 NM_015512.5(DNAH1):c.6644T>C (p.Met2215Thr) SNV Uncertain significance 951194 3:52406080-52406080 3:52372064-52372064
16 DNAH1 NM_015512.5(DNAH1):c.1720C>T (p.Arg574Cys) SNV Uncertain significance 952161 3:52380551-52380551 3:52346535-52346535
17 DNAH1 NM_015512.5(DNAH1):c.283C>T (p.Arg95Cys) SNV Uncertain significance 952206 3:52356741-52356741 3:52322725-52322725
18 DNAH1 NM_015512.5(DNAH1):c.2667G>A (p.Met889Ile) SNV Uncertain significance 952478 3:52384544-52384544 3:52350528-52350528
19 DNAH1 NM_015512.5(DNAH1):c.8633C>T (p.Thr2878Met) SNV Uncertain significance 953567 3:52420183-52420183 3:52386167-52386167
20 DNAH1 NM_015512.5(DNAH1):c.9849C>T (p.Gly3283=) SNV Uncertain significance 953778 3:52425302-52425302 3:52391286-52391286
21 DNAH1 NM_015512.5(DNAH1):c.6343G>A (p.Val2115Met) SNV Uncertain significance 954412 3:52404577-52404577 3:52370561-52370561
22 DNAH1 NM_015512.5(DNAH1):c.9854A>G (p.Glu3285Gly) SNV Uncertain significance 954712 3:52425307-52425307 3:52391291-52391291
23 DNAH1 NM_015512.5(DNAH1):c.3431_3432delinsAT (p.Ser1144Asn) Indel Uncertain significance 955705 3:52387600-52387601 3:52353584-52353585
24 DNAH1 NM_015512.5(DNAH1):c.8456G>A (p.Gly2819Glu) SNV Uncertain significance 956210 3:52418935-52418935 3:52384919-52384919
25 DNAH1 NM_015512.5(DNAH1):c.8596G>A (p.Asp2866Asn) SNV Uncertain significance 956803 3:52419434-52419434 3:52385418-52385418
26 DNAH1 NM_015512.5(DNAH1):c.3071T>G (p.Leu1024Arg) SNV Uncertain significance 957289 3:52387162-52387162 3:52353146-52353146
27 DNAH1 NM_015512.5(DNAH1):c.6371G>A (p.Arg2124His) SNV Uncertain significance 957502 3:52404605-52404605 3:52370589-52370589
28 DNAH1 NM_015512.5(DNAH1):c.8315A>G (p.Gln2772Arg) SNV Uncertain significance 957503 3:52418040-52418040 3:52384024-52384024
29 DNAH1 NM_015512.5(DNAH1):c.485C>T (p.Ala162Val) SNV Uncertain significance 958350 3:52360234-52360234 3:52326218-52326218
30 DNAH1 NM_015512.5(DNAH1):c.1709G>T (p.Arg570Leu) SNV Uncertain significance 959259 3:52380540-52380540 3:52346524-52346524
31 DNAH1 NM_015512.5(DNAH1):c.4453C>G (p.Gln1485Glu) SNV Uncertain significance 961358 3:52393977-52393977 3:52359961-52359961
32 DNAH1 NM_015512.5(DNAH1):c.333G>A (p.Gly111=) SNV Uncertain significance 961559 3:52356791-52356791 3:52322775-52322775
33 DNAH1 NM_015512.5(DNAH1):c.9320T>C (p.Leu3107Pro) SNV Uncertain significance 961877 3:52422582-52422582 3:52388566-52388566
34 DNAH1 NM_015512.5(DNAH1):c.2246A>G (p.Lys749Arg) SNV Uncertain significance 961952 3:52383043-52383043 3:52349027-52349027
35 DNAH1 NM_015512.5(DNAH1):c.2721C>G (p.Phe907Leu) SNV Uncertain significance 962519 3:52384598-52384598 3:52350582-52350582
36 DNAH1 NM_015512.5(DNAH1):c.581+4C>T SNV Uncertain significance 962906 3:52360334-52360334 3:52326318-52326318
37 DNAH1 NM_015512.5(DNAH1):c.7690G>A (p.Ala2564Thr) SNV Uncertain significance 963585 3:52415737-52415737 3:52381721-52381721
38 DNAH1 NM_015512.5(DNAH1):c.7771G>A (p.Gly2591Ser) SNV Uncertain significance 964730 3:52415818-52415818 3:52381802-52381802
39 DNAH1 NM_015512.5(DNAH1):c.7789A>T (p.Arg2597Trp) SNV Uncertain significance 964794 3:52415836-52415836 3:52381820-52381820
40 DNAH1 NM_015512.5(DNAH1):c.7261G>A (p.Ala2421Thr) SNV Uncertain significance 966959 3:52412680-52412680 3:52378664-52378664
41 DNAH1 NM_015512.5(DNAH1):c.605T>C (p.Leu202Pro) SNV Uncertain significance 968249 3:52360774-52360774 3:52326758-52326758
42 DNAH1 NM_015512.5(DNAH1):c.6253A>G (p.Arg2085Gly) SNV Uncertain significance 970741 3:52404240-52404240 3:52370224-52370224
43 DNAH1 NM_015512.5(DNAH1):c.1135A>G (p.Asn379Asp) SNV Uncertain significance 972078 3:52366259-52366259 3:52332243-52332243
44 DNAH1 NM_015512.5(DNAH1):c.1006A>G (p.Ile336Val) SNV Uncertain significance 972491 3:52365298-52365298 3:52331282-52331282
45 DNAH1 NM_015512.5(DNAH1):c.7660G>A (p.Ala2554Thr) SNV Uncertain significance 946552 3:52415707-52415707 3:52381691-52381691
46 DNAH1 NM_015512.5(DNAH1):c.10652G>C (p.Gly3551Ala) SNV Uncertain significance 946636 3:52428506-52428506 3:52394490-52394490
47 DNAH1 NM_015512.5(DNAH1):c.7430G>A (p.Arg2477Gln) SNV Uncertain significance 946856 3:52413973-52413973 3:52379957-52379957
48 DNAH1 NM_015512.5(DNAH1):c.11120A>T (p.Gln3707Leu) SNV Uncertain significance 947197 3:52429475-52429475 3:52395459-52395459
49 DNAH1 NM_015512.5(DNAH1):c.3305G>A (p.Arg1102His) SNV Uncertain significance 947198 3:52387474-52387474 3:52353458-52353458
50 DNAH1 NM_015512.5(DNAH1):c.2546G>A (p.Ser849Asn) SNV Uncertain significance 949184 3:52384024-52384024 3:52350008-52350008

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

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Pathways for Ciliary Dyskinesia, Primary, 37

GO Terms for Ciliary Dyskinesia, Primary, 37

Sources for Ciliary Dyskinesia, Primary, 37

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