MCID: DFN174
MIFTS: 39

Deafness, Autosomal Recessive 44

Categories: Genetic diseases, Ear diseases, Fetal diseases, Blood diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases

Aliases & Classifications for Deafness, Autosomal Recessive 44

MalaCards integrated aliases for Deafness, Autosomal Recessive 44:

Name: Deafness, Autosomal Recessive 44 57 29 13 6 73
Dfnb44 57 12 75
Autosomal Recessive Nonsyndromic Deafness 44 12 15
Deafness, Autosomal Recessive, Type 44 40
Deafness, Autosomal Recessive, 44 75
Autosomal Recessive Deafness 44 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous pakistani reported (last curated july 2015)


HPO:

32
deafness, autosomal recessive 44:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610154
Disease Ontology 12 DOID:0110501
ICD10 33 H90.3
MedGen 42 C1857809
MeSH 44 D006319
SNOMED-CT via HPO 69 258211005
UMLS 73 C1857809

Summaries for Deafness, Autosomal Recessive 44

UniProtKB/Swiss-Prot : 75 Deafness, autosomal recessive, 44: A form of non-syndromic deafness characterized by prelingual profound hearing loss affecting all frequencies.

MalaCards based summary : Deafness, Autosomal Recessive 44, also known as dfnb44, is related to gestational choriocarcinoma and acute dacryocystitis. An important gene associated with Deafness, Autosomal Recessive 44 is ADCY1 (Adenylate Cyclase 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Activation of cAMP-Dependent PKA. Related phenotypes are prelingual sensorineural hearing impairment and Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the ADCY1 gene on chromosome 7p12.

Description from OMIM: 610154

Related Diseases for Deafness, Autosomal Recessive 44

Diseases in the Familial Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Recessive 105 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 44 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 gestational choriocarcinoma 9.1 CALM1 CALM3
2 acute dacryocystitis 9.0 CALM1 CALM2 CALM3
3 external ear disease 9.0 CALM1 CALM2 CALM3
4 long qt syndrome 15 9.0 CALM1 CALM2 CALM3
5 otitis externa 9.0 CALM1 CALM2 CALM3
6 otomycosis 9.0 CALM1 CALM2 CALM3
7 spontaneous ocular nystagmus 9.0 CALM1 CALM2 CALM3
8 sporotrichosis 9.0 CALM1 CALM2 CALM3
9 dystonia 24 9.0 CALM1 CALM2 CALM3
10 triosephosphate isomerase deficiency 8.9 CALM1 CALM2 CALM3
11 leber congenital amaurosis 2 8.9 CALM1 CALM2 CALM3
12 primary systemic mycosis 8.9 CALM1 CALM2 CALM3
13 clear cell acanthoma 8.9 CALM1 CALM2 CALM3
14 cardiac arrest 8.9 CALM1 CALM3
15 cardiomyopathy, dilated, 1a 8.9 CALM1 CALM2 CALM3
16 cardiomyopathy, dilated, 1p 8.8 CALM1 CALM2 CALM3
17 deafness, autosomal dominant 2a 8.8 CALM1 CALM2 CALM3
18 primary cutaneous amyloidosis 8.8 CALM1 CALM2 CALM3
19 catecholaminergic polymorphic ventricular tachycardia 8.7 CALM1 CALM2 CALM3
20 long qt syndrome 1 8.7 CALM1 CALM2 CALM3
21 long qt syndrome 8.6 CALM1 CALM2 CALM3

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 44:



Diseases related to Deafness, Autosomal Recessive 44

Symptoms & Phenotypes for Deafness, Autosomal Recessive 44

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness, prelingual, profound (affects all frequencies)


Clinical features from OMIM:

610154

Human phenotypes related to Deafness, Autosomal Recessive 44:

32
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 32 HP:0000399

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.96 CALM2 CALM3
2 Reduced mammosphere formation GR00396-S 8.92 CALM1 CALM2 CALM3 YARS

Drugs & Therapeutics for Deafness, Autosomal Recessive 44

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 44

Genetic Tests for Deafness, Autosomal Recessive 44

Genetic tests related to Deafness, Autosomal Recessive 44:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 44 29 ADCY1

Anatomical Context for Deafness, Autosomal Recessive 44

Publications for Deafness, Autosomal Recessive 44

Variations for Deafness, Autosomal Recessive 44

ClinVar genetic disease variations for Deafness, Autosomal Recessive 44:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADCY1 NM_021116.3(ADCY1): c.3112C> T (p.Arg1038Ter) single nucleotide variant Pathogenic rs587777497 GRCh37 Chromosome 7, 45753346: 45753346
2 ADCY1 NM_021116.3(ADCY1): c.3112C> T (p.Arg1038Ter) single nucleotide variant Pathogenic rs587777497 GRCh38 Chromosome 7, 45713747: 45713747

Expression for Deafness, Autosomal Recessive 44

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 44.

Pathways for Deafness, Autosomal Recessive 44

Pathways related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 ADCY1 CALM1 CALM2 CALM3
2
Show member pathways
13.34 ADCY1 CALM1 CALM2 CALM3
3
Show member pathways
13.22 ADCY1 CALM1 CALM2 CALM3
4
Show member pathways
13.21 ADCY1 CALM1 CALM2 CALM3
5
Show member pathways
13.16 ADCY1 CALM1 CALM2 CALM3
6
Show member pathways
13.12 ADCY1 CALM1 CALM2 CALM3
7
Show member pathways
12.96 ADCY1 CALM1 CALM2 CALM3
8
Show member pathways
12.94 ADCY1 CALM1 CALM2 CALM3
9
Show member pathways
12.93 ADCY1 CALM1 CALM2 CALM3
10
Show member pathways
12.91 ADCY1 CALM1 CALM2 CALM3
11
Show member pathways
12.91 ADCY1 CALM1 CALM2 CALM3
12
Show member pathways
12.9 ADCY1 CALM1 CALM2 CALM3
13
Show member pathways
12.89 ADCY1 CALM1 CALM2 CALM3
14
Show member pathways
12.88 ADCY1 CALM1 CALM2 CALM3
15
Show member pathways
12.81 ADCY1 CALM1 CALM2 CALM3
16
Show member pathways
12.77 ADCY1 CALM1 CALM2 CALM3
17
Show member pathways
12.76 ADCY1 CALM1 CALM2 CALM3
18
Show member pathways
12.74 CALM1 CALM2 CALM3
19
Show member pathways
12.74 CALM1 CALM2 CALM3
20
Show member pathways
12.73 CALM1 CALM2 CALM3
21 12.73 ADCY1 CALM1 CALM2 CALM3
22
Show member pathways
12.71 CALM1 CALM2 CALM3
23
Show member pathways
12.71 CALM1 CALM2 CALM3
24
Show member pathways
12.7 ADCY1 CALM1 CALM2 CALM3
25
Show member pathways
12.69 CALM1 CALM2 CALM3
26
Show member pathways
12.68 CALM1 CALM2 CALM3
27
Show member pathways
12.67 ADCY1 CALM1 CALM2 CALM3
28
Show member pathways
12.63 ADCY1 CALM1 CALM2 CALM3
29
Show member pathways
12.62 ADCY1 CALM1 CALM2 CALM3
30
Show member pathways
12.6 CALM1 CALM2 CALM3
31
Show member pathways
12.59 CALM1 CALM2 CALM3
32
Show member pathways
12.57 CALM1 CALM2 CALM3
33
Show member pathways
12.57 ADCY1 CALM1 CALM2 CALM3
34
Show member pathways
12.56 ADCY1 CALM1 CALM2 CALM3
35
Show member pathways
12.55 CALM1 CALM2 CALM3
36
Show member pathways
12.53 CALM1 CALM2 CALM3
37
Show member pathways
12.5 CALM1 CALM2 CALM3
38
Show member pathways
12.48 CALM1 CALM2 CALM3
39
Show member pathways
12.47 CALM1 CALM2 CALM3
40
Show member pathways
12.46 ADCY1 CALM1 CALM2 CALM3
41
Show member pathways
12.44 CALM1 CALM2 CALM3
42
Show member pathways
12.43 ADCY1 CALM1 CALM2 CALM3
43
Show member pathways
12.42 CALM1 CALM2 CALM3
44
Show member pathways
12.41 ADCY1 CALM1 CALM2 CALM3
45
Show member pathways
12.4 CALM1 CALM2 CALM3
46
Show member pathways
12.35 CALM1 CALM2 CALM3
47
Show member pathways
12.33 CALM1 CALM2 CALM3
48
Show member pathways
12.33 CALM1 CALM2 CALM3
49
Show member pathways
12.33 ADCY1 CALM1 CALM2 CALM3
50
Show member pathways
12.32 CALM1 CALM2 CALM3

GO Terms for Deafness, Autosomal Recessive 44

Cellular components related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.63 CALM1 CALM2 CALM3
2 centrosome GO:0005813 9.61 CALM1 CALM2 CALM3
3 spindle GO:0005819 9.58 CALM1 CALM2 CALM3
4 vesicle GO:0031982 9.54 CALM1 CALM2 CALM3
5 spindle pole GO:0000922 9.5 CALM1 CALM2 CALM3
6 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
7 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
8 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
9 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

Biological processes related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.9 ADCY1 CALM1 CALM2 CALM3
2 phosphorylation GO:0016310 9.78 CALM1 CALM2 CALM3
3 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
4 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
5 substantia nigra development GO:0021762 9.75 CALM1 CALM2 CALM3
6 regulation of cytokinesis GO:0032465 9.74 CALM1 CALM2 CALM3
7 regulation of heart rate GO:0002027 9.73 CALM1 CALM2 CALM3
8 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.72 CALM1 CALM2 CALM3
9 positive regulation of protein autophosphorylation GO:0031954 9.71 CALM1 CALM2 CALM3
10 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
11 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.69 CALM1 CALM2 CALM3
12 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.67 CALM1 CALM2 CALM3
13 regulation of cardiac muscle contraction GO:0055117 9.65 CALM1 CALM2 CALM3
14 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.63 CALM1 CALM2 CALM3
15 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
16 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.58 CALM1 CALM2 CALM3
17 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
18 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
19 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
20 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
21 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
22 positive regulation of cyclic nucleotide metabolic process GO:0030801 8.8 CALM1 CALM2 CALM3

Molecular functions related to Deafness, Autosomal Recessive 44 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.69 CALM1 CALM2 CALM3
2 kinase activity GO:0016301 9.67 CALM1 CALM2 CALM3
3 protein kinase binding GO:0019901 9.65 CALM1 CALM2 CALM3
4 protein domain specific binding GO:0019904 9.63 CALM1 CALM2 CALM3
5 ion channel binding GO:0044325 9.58 CALM1 CALM2 CALM3
6 disordered domain specific binding GO:0097718 9.54 CALM1 CALM2 CALM3
7 protein serine/threonine kinase activator activity GO:0043539 9.5 CALM1 CALM2 CALM3
8 calcium channel inhibitor activity GO:0019855 9.43 CALM1 CALM2
9 titin binding GO:0031432 9.43 CALM1 CALM2 CALM3
10 adenylate cyclase binding GO:0008179 9.33 CALM1 CALM2 CALM3
11 protein phosphatase activator activity GO:0072542 9.13 CALM1 CALM2 CALM3
12 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Deafness, Autosomal Recessive 44

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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