Aliases & Classifications for Ear Malformation

MalaCards integrated aliases for Ear Malformation:

Name: Ear Malformation 57 55
Cup Ear 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ear malformation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 128600
MedGen 42 C0266589
SNOMED-CT via HPO 69 263681008 275259005

Summaries for Ear Malformation

MalaCards based summary : Ear Malformation, also known as cup ear, is related to auriculocondylar syndrome 1 and auriculo-condylar syndrome. An important gene associated with Ear Malformation is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are fMLP Pathway and Salivary secretion. Affiliated tissues include bone, and related phenotypes are abnormality of the ear and Increased shRNA abundance (Z-score > 2)

Description from OMIM: 128600

Related Diseases for Ear Malformation

Diseases related to Ear Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 auriculocondylar syndrome 1 31.5 PLCB4 GNAI3
2 auriculo-condylar syndrome 31.4 EDN1 GNAI3 PLCB4
3 deafness, conductive stapedial, with ear malformation and facial palsy 12.2
4 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 12.1
5 cardiospondylocarpofacial syndrome 11.3
6 x-linked intellectual disability, abidi type 11.2
7 renpenning syndrome 1 11.2
8 sweeney-cox syndrome 11.2
9 brooks-wisniewski-brown syndrome 11.0
10 branchiootic syndrome 11.0
11 ring chromosome 12 11.0
12 auriculocondylar syndrome 2 11.0
13 mondini dysplasia 11.0
14 hemifacial microsomia with radial defects 10.8
15 fraser syndrome 1 10.8
16 auriculocondylar syndrome 3 10.8
17 fraser syndrome 2 10.8
18 fraser syndrome 3 10.8
19 van maldergem syndrome 10.8
20 vacterl association 10.8
21 49, xxxxx 10.8
22 craniofacial microsomia 10.8
23 19p13.12 microdeletion syndrome 10.8
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
25 hodgkin's lymphoma, nodular sclerosis 10.2 SLC26A4 GJB2
26 deafness, autosomal dominant 36 10.2 SLC26A4 GJB2
27 deafness, autosomal recessive 23 10.2 SLC26A4 GJB2
28 deafness, autosomal recessive 26 10.2 SLC26A4 GJB2
29 achondrogenesis, type ib 10.2 SLC26A4 FLNB
30 deafness, autosomal recessive 30 10.1 SLC26A4 GJB2
31 autosomal recessive nonsyndromic deafness 3 10.1 SLC26A4 GJB2
32 deafness, autosomal recessive 16 10.1 SLC26A4 GJB2
33 branchiootic syndrome 1 10.0 SLC26A4 GJB2 EYA1
34 branchiooculofacial syndrome 10.0 TFAP2A EYA1
35 lacrimal duct obstruction 10.0 TFAP2A EYA1
36 drug-induced hearing loss 10.0 SLC26A4 GJB2
37 sensorineural hearing loss 10.0
38 nonsyndromic deafness 9.9 SLC26A4 GJB2 FOXI1
39 inner ear disease 9.9 SLC26A4 GJB2 FOXI1 FGF3
40 vestibular disease 9.9 FOXI1 GJB2 KCNJ10 SLC26A4
41 cerebellar liponeurocytoma 9.9 NEUROG1 ATOH1
42 pendred syndrome 9.9 SLC26A4 KCNJ10 GJB2 FOXI1
43 treacher collins syndrome 1 9.9
44 dysostosis 9.9
45 meningitis 9.9
46 microtia 9.9
47 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 EYA1 FOXI1 GJB2 KCNJ10 SLC26A4
48 cleidocranial dysplasia 9.7
49 coxoauricular syndrome 9.7
50 scalp-ear-nipple syndrome 9.7

Graphical network of the top 20 diseases related to Ear Malformation:



Diseases related to Ear Malformation

Symptoms & Phenotypes for Ear Malformation

Symptoms via clinical synopsis from OMIM:

57
Ears:
cup pinna


Clinical features from OMIM:

128600

Human phenotypes related to Ear Malformation:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the ear 32 HP:0000598

GenomeRNAi Phenotypes related to Ear Malformation according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 FGF3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.7 FGF3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.7 FGF3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 TFAP2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.7 TFAP2A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.7 FGF3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.7 EDN1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.7 TFAP2A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.7 TFAP2A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.7 FGF3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.7 EDN1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.7 TFAP2A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.7 EDN1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.7 TFAP2A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.7 EDN1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.7 TFAP2A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.7 FGF3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.7 TFAP2A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.7 EDN1 FGF3 TFAP2A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.7 FGF3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.7 EDN1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.7 FGF3

MGI Mouse Phenotypes related to Ear Malformation:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ATOH1 EYA1 FGF3 FLNB FOXI1 KCNJ10
2 mortality/aging MP:0010768 10.25 ATOH1 EDN1 EYA1 FGF3 FLNB FOXI1
3 nervous system MP:0003631 10.25 ATOH1 EDN1 EYA1 FGF3 FLNB FOXI1
4 hearing/vestibular/ear MP:0005377 10.22 ATOH1 EDN1 EYA1 FGF3 FOXI1 GJB2
5 cellular MP:0005384 10.2 ATOH1 EYA1 FLNB FOXI1 GJB2 NEUROD1
6 homeostasis/metabolism MP:0005376 10.2 ATOH1 EDN1 EYA1 FLNB FOXI1 GJB2
7 growth/size/body region MP:0005378 10.19 EDN1 EYA1 FGF3 FLNB GJB2 KCNJ10
8 craniofacial MP:0005382 10.08 EDN1 EYA1 FLNB FOXI1 GJB2 SOX2
9 digestive/alimentary MP:0005381 10.07 ATOH1 EDN1 EYA1 NEUROD1 SLC26A4 SOX2
10 endocrine/exocrine gland MP:0005379 10.05 ATOH1 EDN1 EYA1 NEUROD1 SLC26A4 SOX2
11 normal MP:0002873 9.87 ATOH1 EDN1 EYA1 FGF3 GJB2 SOX2
12 no phenotypic analysis MP:0003012 9.85 ATOH1 FGF3 GJB2 NEUROG1 PLCB4 SOX2
13 renal/urinary system MP:0005367 9.73 EDN1 EYA1 FOXI1 KCNJ10 NEUROD1 SLC26A4
14 skeleton MP:0005390 9.7 EDN1 EYA1 FGF3 FLNB FOXI1 GJB2
15 respiratory system MP:0005388 9.63 ATOH1 EYA1 FLNB NEUROD1 SOX2 TFAP2A
16 vision/eye MP:0005391 9.17 EYA1 GJB2 KCNJ10 NEUROD1 PLCB4 SOX2

Drugs & Therapeutics for Ear Malformation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
2 A New Cochlear Implant Electrode For Inner Ear Malformations Completed NCT02011867 Not Applicable
3 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
4 Earlobe Creases Predict Prognosis in Chinese Patients With Acute Myocardial Infarction Recruiting NCT02618681
5 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036
6 Pilot Study of Familial Nonsyndromal Mondini Dysplasia Completed NCT00004336
7 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463 Not Applicable
8 Analysis of Postoperative Bandage Use Protocols in Otoplasty Completed NCT01810497 Not Applicable

Search NIH Clinical Center for Ear Malformation

Genetic Tests for Ear Malformation

Anatomical Context for Ear Malformation

MalaCards organs/tissues related to Ear Malformation:

41
Bone

Publications for Ear Malformation

Articles related to Ear Malformation:

(show top 50) (show all 51)
# Title Authors Year
1
Key Genes and Pathways Associated With Inner Ear Malformation in SOX10a88 <sup> <i>p.R109W</i> </sup> Mutation Pigs. ( 29922125 )
2018
2
Duplicated internal auditory canal with inner ear malformation: Case report and literature review. ( 28446373 )
2018
3
Hearing Rehabilitation in Congenital Middle Ear Malformation. ( 29794426 )
2018
4
Radiological Anatomy of Inner Ear Malformation in Hearing Impaired Children and it's Correlation with Hearing Loss: A Hospital Based Observational Study. ( 29977855 )
2018
5
Postoperative objective detecting techniques for cochlear implant children with inner ear malformation. ( 29106852 )
2017
6
The diagnostic value of measurement of cochlear length and height in temporal bone CT multiplanar reconstruction of inner ear malformation. ( 27577263 )
2017
7
Long-term outcomes of a transmastoid lateral semicircular canal approach to congenital CSF otorrhea in children associated with recurrent meningitis and severe inner ear malformation. ( 27368469 )
2016
8
The role of transcription factors of neurosensory cells in non-syndromic sensorineural hearing loss with or without inner ear malformation. ( 26634621 )
2016
9
Revision Stapedectomy in a Female Patient with Inner Ear Malformation. ( 27144044 )
2016
10
Bart syndrome with ear malformation. ( 25685377 )
2015
11
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement. ( 25325184 )
2015
12
[Analysis the relationship between SLC26A4 mutation and current diagnosis of inner ear malformation in children with sensorineural hearing loss]. ( 25752102 )
2014
13
Evaluation of cochlear implantation in children with inner ear malformation. ( 25654949 )
2014
14
FGF23 deficiency leads to mixed hearing loss and middle ear malformation in mice. ( 25243481 )
2014
15
A rare middle ear malformation. ( 23562225 )
2013
16
[Survey of quality of life scale for patients with congenital ear malformation]. ( 22490801 )
2012
17
Recurrent meningitis in an adult secondary to an inner ear malformation: imaging demonstration. ( 22522362 )
2012
18
Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. ( 22412181 )
2012
19
Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation. ( 22736458 )
2012
20
Evaluation of the Carhart effect in congenital middle ear malformation with both an intact external ear canal and a mobile stapes footplate. ( 21212712 )
2011
21
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. ( 19950373 )
2010
22
Otosclerosis associated with type B-1 inner ear malformation. ( 20948592 )
2010
23
Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome? ( 20186786 )
2010
24
Chondrocyte-specific Smad4 gene conditional knockout results in hearing loss and inner ear malformation in mice. ( 19582869 )
2009
25
Narrow duplicated internal auditory canal: a rare inner ear malformation with sensorineural hearing loss. ( 19841348 )
2009
26
A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. ( 19206157 )
2009
27
Cochlear implant and inner ear malformation. Proposal for an hyperosmolar therapy at surgery. ( 18282614 )
2008
28
[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation]. ( 18167283 )
2007
29
SLC26A4 mutations are associated with a specific inner ear malformation. ( 17197040 )
2007
30
De novo pericentric inversion of chromosome 5 in a girl with mental retardation and unilateral ear malformation. ( 16411238 )
2006
31
Retrofacial approach of cochlear implantation in inner ear malformation with aberrant facial nerve: a case report. ( 16417982 )
2006
32
The widely patent cochleovestibular communication of Edward Cock is a distinct inner ear malformation: implications for cochlear implantation. ( 16944658 )
2006
33
Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. ( 15712197 )
2005
34
Optical and tomographic imaging of a middle ear malformation in the bullfrog (Rana catesbeiana). ( 16158670 )
2005
35
Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation. ( 15353999 )
2004
36
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. ( 11424924 )
2001
37
Congenital anomaly: middle ear malformation. ( 11433836 )
2001
38
Congenital anomaly: middle ear malformation. ( 10786379 )
2000
39
Cochlear implant in inner ear malformation: double posterior labyrinthotomy approach to common cavity. ( 11892121 )
2000
40
Neurotological evaluation of vertical semicircular canal function in inner ear malformation. A case report. ( 10545811 )
1999
41
Imaging case of the month: inner ear malformation. ( 9596193 )
1998
42
Congenital inner ear malformation. ( 9752978 )
1998
43
5-year series of constricted (lop and cup) ear corrections: development of the mastoid hitch as an adjunctive technique. ( 9858166 )
1998
44
Fistula of stapes footplate caused by pulsatile cerebrospinal fluid in inner ear malformation. ( 9166882 )
1997
45
Multichannel cochlear implantation with inner ear malformation: case report of performance and management. ( 7620201 )
1995
46
Ear malformation and hearing loss in patients with Treacher Collins syndrome. ( 8418881 )
1993
47
Ear malformation in baby born to mother using tretinoin cream. ( 1347386 )
1992
48
Cochlear implantation in the Mondini inner ear malformation. ( 3755572 )
1986
49
Congenital neural hearing-loss due to inner ear malformation. ( 3973500 )
1985
50
Duane's syndrome associated with crocodile tear and ear malformation. A case of stapes anomaly and its reconstruction. ( 6487129 )
1984

Variations for Ear Malformation

ClinVar genetic disease variations for Ear Malformation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 47 genes:TBX1 GRCh37/hg19 22q11.21(chr22: 18894835-21505417) copy number loss Pathogenic GRCh37 Chromosome 22, 18894835: 21505417

Copy number variations for Ear Malformation from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 125355 19 13800000 16100000 Microdeletion CD97 ear malformations
2 125361 19 13800000 16100000 Microdeletion DDX39 ear malformations
3 125367 19 13800000 16100000 Microdeletion GIPC1 ear malformations
4 125373 19 13800000 16100000 Microdeletion LPHN1 ear malformations
5 125379 19 13800000 16100000 Microdeletion PKN1 ear malformations
6 125385 19 13800000 16100000 Microdeletion PTGER1 ear malformations

Expression for Ear Malformation

Search GEO for disease gene expression data for Ear Malformation.

Pathways for Ear Malformation

GO Terms for Ear Malformation

Biological processes related to Ear Malformation according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.98 ATOH1 EYA1 FGF3 FLNB NEUROD1 NEUROG1
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.92 ATOH1 EDN1 EYA1 FOXI1 NEUROD1 NEUROG1
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 EYA1 FOXI1 NEUROD1 SOX2 TFAP2A
4 cell differentiation GO:0030154 9.91 ATOH1 FGF3 FLNB FOXI1 NEUROD1 NEUROG1
5 transcription by RNA polymerase II GO:0006366 9.89 ATOH1 FOXI1 NEUROD1 SOX2 TFAP2A
6 anatomical structure morphogenesis GO:0009653 9.71 EYA1 FGF3 FOXI1
7 sensory perception of sound GO:0007605 9.71 EYA1 GJB2 SLC26A4 TFAP2A
8 positive regulation of DNA-binding transcription factor activity GO:0051091 9.7 EDN1 NEUROD1 NEUROG1
9 positive regulation of neuron differentiation GO:0045666 9.65 ATOH1 NEUROD1 NEUROG1
10 cochlea morphogenesis GO:0090103 9.57 EYA1 NEUROG1
11 middle ear morphogenesis GO:0042474 9.56 EDN1 EYA1
12 cell fate commitment GO:0045165 9.56 EYA1 NEUROD1 NEUROG1 SOX2
13 regulation of pH GO:0006885 9.55 EDN1 SLC26A4
14 trigeminal nerve development GO:0021559 9.46 NEUROG1 TFAP2A
15 regulation of neuron differentiation GO:0045664 9.46 ATOH1 EYA1 NEUROD1 NEUROG1
16 inner ear morphogenesis GO:0042472 9.35 ATOH1 EYA1 FOXI1 NEUROG1 TFAP2A
17 inner ear development GO:0048839 9.02 ATOH1 GJB2 NEUROD1 NEUROG1 SOX2
18 regulation of transcription, DNA-templated GO:0006355 10.05 ATOH1 FOXI1 NEUROD1 NEUROG1 SOX2 TFAP2A

Molecular functions related to Ear Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 ATOH1 FOXI1 NEUROD1 NEUROG1 SOX2 TFAP2A
2 sequence-specific DNA binding GO:0043565 9.65 ATOH1 FOXI1 NEUROD1 SOX2 TFAP2A
3 DNA-binding transcription factor activity GO:0003700 9.63 ATOH1 FOXI1 NEUROD1 NEUROG1 SOX2 TFAP2A
4 protein dimerization activity GO:0046983 9.26 ATOH1 NEUROD1 NEUROG1 TFAP2A
5 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.02 ATOH1 FOXI1 NEUROD1 SOX2 TFAP2A

Sources for Ear Malformation

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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