DFNB44
MCID: DFN174
MIFTS: 19

Deafness, Autosomal Recessive 44 (DFNB44)

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

Aliases & Classifications for Deafness, Autosomal Recessive 44

MalaCards integrated aliases for Deafness, Autosomal Recessive 44:

Name: Deafness, Autosomal Recessive 44 56 29 13 6 71
Dfnb44 56 12 73
Autosomal Recessive Nonsyndromic Deafness 44 12 15
Deafness, Autosomal Recessive, Type 44 39
Deafness, Autosomal Recessive, 44 73
Autosomal Recessive Deafness 44 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
deafness, autosomal recessive 44:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110501
OMIM 56 610154
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1857809
SNOMED-CT via HPO 68 258211005
UMLS 71 C1857809

Summaries for Deafness, Autosomal Recessive 44

UniProtKB/Swiss-Prot : 73 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 autosomal recessive non-syndromic sensorineural deafness type dfnb. An important gene associated with Deafness, Autosomal Recessive 44 is ADCY1 (Adenylate Cyclase 1). Related phenotype is prelingual sensorineural hearing impairment.

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

More information from OMIM: 610154 PS220290

Related Diseases for Deafness, Autosomal Recessive 44

Diseases in the Rare 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 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 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 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
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 32
Autosomal Recessive Nonsyndromic Deafness 36 Otof-Related Deafness
Familial Deafness

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

# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.3

Symptoms & Phenotypes for Deafness, Autosomal Recessive 44

Human phenotypes related to Deafness, Autosomal Recessive 44:

31
# Description HPO Frequency HPO Source Accession
1 prelingual sensorineural hearing impairment 31 HP:0000399

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
deafness, prelingual, profound (affects all frequencies)

Clinical features from OMIM:

610154

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

Articles related to Deafness, Autosomal Recessive 44:

# Title Authors PMID Year
1
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. 61 56 6
24482543 2014
2
DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. 61 56 6
15583425 2004

Variations for Deafness, Autosomal Recessive 44

ClinVar genetic disease variations for Deafness, Autosomal Recessive 44:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADCY1 NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter)SNV Pathogenic 139587 rs587777497 7:45753346-45753346 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

GO Terms for Deafness, Autosomal Recessive 44

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 8.62 YARS1 ADCY1

Sources for Deafness, Autosomal Recessive 44

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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