MCID: DFN174
MIFTS: 35

Deafness, Autosomal Recessive 44

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

Aliases & Classifications for Deafness, Autosomal Recessive 44

MalaCards integrated aliases for Deafness, Autosomal Recessive 44:

Name: Deafness, Autosomal Recessive 44 54 13 69
Autosomal Recessive Nonsyndromic Deafness 44 12 14
Dfnb44 12 71
Deafness, Autosomal Recessive, 44 71
Autosomal Recessive Deafness 44 12

Characteristics:

OMIM:

54
Miscellaneous:
one consanguineous pakistani reported (last curated july 2015)

Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 44:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610154
Disease Ontology 12 DOID:0110501
ICD10 33 H90.3
MedGen 40 C1857809
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005

Summaries for Deafness, Autosomal Recessive 44

UniProtKB/Swiss-Prot : 71 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 autosomal recessive nonsyndromic deafness 44, is related to encephalomalacia and subclavian steal syndrome, and has symptoms including prelingual sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 44 is ADCY1 (Adenylate Cyclase 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Integrin Pathway. Related phenotype is Decreased Hepatitis C Virus pseudoparticles (HCVpp.

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

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

(show all 24)
id Related Disease Score Top Affiliating Genes
1 encephalomalacia 9.4 CALM1 CALM3
2 subclavian steal syndrome 9.2 CALM1 CALM2 CALM3
3 long qt syndrome 15 9.2 CALM1 CALM2 CALM3
4 epidural spinal canal meningioma 9.2 CALM1 CALM2 CALM3
5 pseudohypoaldosteronism, type iic 9.2 CALM1 CALM2 CALM3
6 mononeuritis of lower limb 9.2 CALM1 CALM2 CALM3
7 pontiac fever 9.2 CALM1 CALM2 CALM3
8 regular astigmatism 9.2 CALM1 CALM2 CALM3
9 dumping syndrome 9.2 CALM1 CALM2 CALM3
10 bulimia nervosa, age of onset of weight loss in 9.2 CALM1 CALM2 CALM3
11 leber congenital amaurosis 2 9.2 CALM1 CALM2 CALM3
12 alkhurma hemorrhagic fever 9.1 CALM1 CALM2 CALM3
13 cardiomyopathy, dilated, 1a 9.1 CALM1 CALM2 CALM3
14 cardiomyopathy, hypertrophic, 18 9.1 CALM1 CALM2 CALM3
15 partial of retinal vein occlusion 9.1 CALM1 CALM2 CALM3
16 plantar fasciitis 9.1 CALM1 CALM2 CALM3
17 deafness, autosomal dominant 2a 9.1 CALM1 CALM2 CALM3
18 lymphocytic choriomeningitis 9.0 CALM1 CALM2 CALM3
19 hypochromic microcytic anemia 9.0 CALM1 CALM2 CALM3
20 pigment dispersion syndrome 8.9 CALM1 CALM2 CALM3
21 umbilical hernia 8.9 CALM1 CALM2 CALM3
22 jervell and lange-nielsen syndrome 8.8 CALM1 CALM2 CALM3
23 hairy cell leukemia 8.6 CALM1 CALM2 CALM3
24 heterotaxy, visceral, 8, autosomal 8.3 ADCY1 CALM1 CALM2 CALM3 YARS

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:

54

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


Clinical features from OMIM:

610154

Human phenotypes related to Deafness, Autosomal Recessive 44:

32
id 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Hepatitis C Virus pseudoparticles (HCVpp GR00234-A-1 8.62 CALM2 CALM3

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

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
id 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

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 109)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 ADCY1 CALM1 CALM2 CALM3
2
Show member pathways
13.22 ADCY1 CALM1 CALM2 CALM3
3
Show member pathways
13.2 ADCY1 CALM1 CALM2 CALM3
4
Show member pathways
13.15 ADCY1 CALM1 CALM2 CALM3
5
Show member pathways
13.11 ADCY1 CALM1 CALM2 CALM3
6
Show member pathways
13.05 ADCY1 CALM1 CALM2 CALM3
7
Show member pathways
12.96 ADCY1 CALM1 CALM2 CALM3
8
Show member pathways
12.93 ADCY1 CALM1 CALM2 CALM3
9
Show member pathways
12.93 ADCY1 CALM1 CALM2 CALM3
10
Show member pathways
12.89 ADCY1 CALM1 CALM2 CALM3
11
Show member pathways
12.88 ADCY1 CALM1 CALM2 CALM3
12
Show member pathways
12.79 ADCY1 CALM1 CALM2 CALM3
13
Show member pathways
12.79 ADCY1 CALM1 CALM2 CALM3
14
Show member pathways
12.77 ADCY1 CALM1 CALM2 CALM3
15
Show member pathways
12.76 ADCY1 CALM1 CALM2 CALM3
16
Show member pathways
12.74 CALM1 CALM2 CALM3
17
Show member pathways
12.73 CALM1 CALM2 CALM3
18
Show member pathways
12.72 CALM1 CALM2 CALM3
19
Show member pathways
12.72 CALM1 CALM2 CALM3
20
Show member pathways
12.71 CALM1 CALM2 CALM3
21
Show member pathways
12.69 CALM1 CALM2 CALM3
22
Show member pathways
12.68 CALM1 CALM2 CALM3
23
Show member pathways
12.67 ADCY1 CALM1 CALM2 CALM3
24
Show member pathways
12.67 ADCY1 CALM1 CALM2 CALM3
25
Show member pathways
12.65 CALM1 CALM2 CALM3
26
Show member pathways
12.63 ADCY1 CALM1 CALM2 CALM3
27
Show member pathways
12.59 CALM1 CALM2 CALM3
28
Show member pathways
12.57 CALM1 CALM2 CALM3
29
Show member pathways
12.57 ADCY1 CALM1 CALM2 CALM3
30
Show member pathways
12.53 CALM1 CALM2 CALM3
31
Show member pathways
12.51 CALM1 CALM2 CALM3
32
Show member pathways
12.51 CALM1 CALM2 CALM3
33
Show member pathways
12.48 CALM1 CALM2 CALM3
34
Show member pathways
12.47 CALM1 CALM2 CALM3
35
Show member pathways
12.47 ADCY1 CALM1 CALM2 CALM3
36
Show member pathways
12.44 ADCY1 CALM1 CALM2 CALM3
37
Show member pathways
12.43 CALM1 CALM2 CALM3
38
Show member pathways
12.43 ADCY1 CALM1 CALM2 CALM3
39
Show member pathways
12.41 CALM1 CALM2 CALM3
40
Show member pathways
12.35 CALM1 CALM2 CALM3
41
Show member pathways
12.34 ADCY1 CALM1 CALM2 CALM3
42
Show member pathways
12.33 CALM1 CALM2 CALM3
43
Show member pathways
12.33 CALM1 CALM2 CALM3
44
Show member pathways
12.32 ADCY1 CALM1 CALM2 CALM3
45
Show member pathways
12.31 CALM1 CALM2 CALM3
46
Show member pathways
12.31 CALM1 CALM2 CALM3
47
Show member pathways
12.3 CALM1 CALM2 CALM3
48
Show member pathways
12.27 CALM1 CALM2 CALM3
49
Show member pathways
12.27 ADCY1 CALM1 CALM2 CALM3
50 12.26 ADCY1 CALM1 CALM2 CALM3

GO Terms for Deafness, Autosomal Recessive 44

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

id Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 9.43 CALM1 CALM2 CALM3
2 spindle pole GO:0000922 9.33 CALM1 CALM2 CALM3
3 sarcomere GO:0030017 9.13 CALM1 CALM2 CALM3
4 calcium channel complex GO:0034704 8.8 CALM1 CALM2 CALM3

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.74 CALM1 CALM2 CALM3
2 positive regulation of protein serine/threonine kinase activity GO:0071902 9.73 CALM1 CALM2 CALM3
3 regulation of heart rate GO:0002027 9.72 CALM1 CALM2 CALM3
4 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.71 CALM1 CALM2 CALM3
5 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
6 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.69 CALM1 CALM2 CALM3
7 positive regulation of protein autophosphorylation GO:0031954 9.67 CALM1 CALM2 CALM3
8 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.65 CALM1 CALM2 CALM3
9 regulation of cardiac muscle contraction GO:0055117 9.63 CALM1 CALM2 CALM3
10 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
11 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.58 CALM1 CALM2 CALM3
12 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
13 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
14 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
15 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
16 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
17 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:

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.5 CALM1 CALM2 CALM3
2 ion channel binding GO:0044325 9.43 CALM1 CALM2 CALM3
3 protein serine/threonine kinase activator activity GO:0043539 9.33 CALM1 CALM2 CALM3
4 titin binding GO:0031432 9.13 CALM1 CALM2 CALM3
5 protein phosphatase activator activity GO:0072542 8.8 CALM1 CALM2 CALM3

Sources for Deafness, Autosomal Recessive 44

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....