Aliases & Classifications for Ear Malformation

MalaCards integrated aliases for Ear Malformation:

Name: Ear Malformation 58 56
Cup Ear 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ear malformation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 128600
MedGen 43 C0266589
SNOMED-CT via HPO 70 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 behavior/neurological

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 55)
# Related Disease Score Top Affiliating Genes
1 auriculocondylar syndrome 1 31.7 PLCB4 GNAI3
2 auriculo-condylar syndrome 31.6 PLCB4 GNAI3 EDN1
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 11.3
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 renal hypodysplasia/aplasia 3 10.3 GREB1L LOC101927521
26 hodgkin's lymphoma, nodular sclerosis 10.3 GJB2 SLC26A4
27 deafness, autosomal dominant 36 10.2 GJB2 SLC26A4
28 deafness, autosomal recessive 23 10.2 GJB2 SLC26A4
29 sensorineural hearing loss 10.1
30 deafness, autosomal recessive 26 10.1 GJB2 SLC26A4
31 branchiooculofacial syndrome 10.1 EYA1 TFAP2A
32 achondrogenesis, type ib 10.1 FLNB SLC26A4
33 branchiootic syndrome 1 10.0 SLC26A4 GJB2 EYA1
34 lacrimal duct obstruction 10.0 EYA1 TFAP2A
35 meningitis 10.0
36 treacher collins syndrome 1 9.9
37 dysostosis 9.9
38 microtia 9.9
39 vestibular disease 9.8 SLC26A4 KCNJ10 GJB2 FOXI1
40 pendred syndrome 9.8 SLC26A4 KCNJ10 GJB2 FOXI1
41 cleidocranial dysplasia 9.7
42 coxoauricular syndrome 9.7
43 scalp-ear-nipple syndrome 9.7
44 velocardiofacial syndrome 9.7
45 cerebellar hypoplasia 9.7
46 human immunodeficiency virus type 1 9.7
47 renal hypoplasia 9.7
48 synostosis 9.7
49 otosclerosis 9.7
50 facial paralysis 9.7

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



Diseases related to Ear Malformation

Symptoms & Phenotypes for Ear Malformation

Human phenotypes related to Ear Malformation:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the ear 33 HP:0000598

Symptoms via clinical synopsis from OMIM:

58
Ears:
cup pinna

Clinical features from OMIM:

128600

MGI Mouse Phenotypes related to Ear Malformation:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 ATOH1 EYA1 FGF3 FLNB FOXI1 KCNJ10
2 mortality/aging MP:0010768 10.28 ATOH1 EDN1 EYA1 FGF3 FLNB FOXI1
3 nervous system MP:0003631 10.28 ATOH1 EDN1 EYA1 FGF3 FLNB FOXI1
4 growth/size/body region MP:0005378 10.24 EDN1 EYA1 FGF3 FLNB GJB2 GREB1L
5 hearing/vestibular/ear MP:0005377 10.22 ATOH1 EDN1 EYA1 FGF3 FOXI1 GJB2
6 cellular MP:0005384 10.21 ATOH1 EYA1 FLNB FOXI1 GJB2 NEUROD1
7 homeostasis/metabolism MP:0005376 10.2 ATOH1 EDN1 EYA1 FLNB FOXI1 GJB2
8 digestive/alimentary MP:0005381 10.14 ATOH1 EDN1 EYA1 GREB1L NEUROD1 SLC26A4
9 endocrine/exocrine gland MP:0005379 10.11 ATOH1 EDN1 EYA1 GREB1L NEUROD1 SLC26A4
10 craniofacial MP:0005382 10.09 EDN1 EYA1 FLNB FOXI1 GJB2 SOX2
11 embryo MP:0005380 10.07 EDN1 EYA1 FGF3 GJB2 GREB1L SOX2
12 normal MP:0002873 9.87 ATOH1 EDN1 EYA1 FGF3 GJB2 SOX2
13 no phenotypic analysis MP:0003012 9.85 ATOH1 FGF3 GJB2 NEUROG1 PLCB4 SOX2
14 renal/urinary system MP:0005367 9.8 EDN1 EYA1 FOXI1 GREB1L KCNJ10 NEUROD1
15 respiratory system MP:0005388 9.7 ATOH1 EYA1 FLNB GREB1L NEUROD1 SOX2
16 skeleton MP:0005390 9.7 EDN1 EYA1 FGF3 FLNB FOXI1 GJB2
17 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:

42
Bone

Publications for Ear Malformation

Articles related to Ear Malformation:

(show top 50) (show all 53)
# Title Authors Year
1
Development of vestibular ocular reflex and gross motor function in infants with common cavity deformity as a type of inner ear malformation. ( 30762456 )
2019
2
Analysis between phenotypes and genotypes of inner ear malformation. ( 30762457 )
2019
3
Key Genes and Pathways Associated With Inner Ear Malformation in SOX10a88 <sup> <i>p.R109W</i> </sup> Mutation Pigs. ( 29922125 )
2018
4
Duplicated internal auditory canal with inner ear malformation: Case report and literature review. ( 28446373 )
2018
5
Hearing Rehabilitation in Congenital Middle Ear Malformation. ( 29794426 )
2018
6
Radiological Anatomy of Inner Ear Malformation in Hearing Impaired Children and it's Correlation with Hearing Loss: A Hospital Based Observational Study. ( 29977855 )
2018
7
Postoperative objective detecting techniques for cochlear implant children with inner ear malformation. ( 29106852 )
2017
8
The diagnostic value of measurement of cochlear length and height in temporal bone CT multiplanar reconstruction of inner ear malformation. ( 27577263 )
2017
9
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
10
The role of transcription factors of neurosensory cells in non-syndromic sensorineural hearing loss with or without inner ear malformation. ( 26634621 )
2016
11
Revision Stapedectomy in a Female Patient with Inner Ear Malformation. ( 27144044 )
2016
12
Bart syndrome with ear malformation. ( 25685377 )
2015
13
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement. ( 25325184 )
2015
14
[Analysis the relationship between SLC26A4 mutation and current diagnosis of inner ear malformation in children with sensorineural hearing loss]. ( 25752102 )
2014
15
Evaluation of cochlear implantation in children with inner ear malformation. ( 25654949 )
2014
16
FGF23 deficiency leads to mixed hearing loss and middle ear malformation in mice. ( 25243481 )
2014
17
A rare middle ear malformation. ( 23562225 )
2013
18
[Survey of quality of life scale for patients with congenital ear malformation]. ( 22490801 )
2012
19
Recurrent meningitis in an adult secondary to an inner ear malformation: imaging demonstration. ( 22522362 )
2012
20
Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. ( 22412181 )
2012
21
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
22
Evaluation of the Carhart effect in congenital middle ear malformation with both an intact external ear canal and a mobile stapes footplate. ( 21212712 )
2011
23
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. ( 19950373 )
2010
24
Otosclerosis associated with type B-1 inner ear malformation. ( 20948592 )
2010
25
Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome? ( 20186786 )
2010
26
Chondrocyte-specific Smad4 gene conditional knockout results in hearing loss and inner ear malformation in mice. ( 19582869 )
2009
27
Narrow duplicated internal auditory canal: a rare inner ear malformation with sensorineural hearing loss. ( 19841348 )
2009
28
A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. ( 19206157 )
2009
29
Cochlear implant and inner ear malformation. Proposal for an hyperosmolar therapy at surgery. ( 18282614 )
2008
30
[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation]. ( 18167283 )
2007
31
SLC26A4 mutations are associated with a specific inner ear malformation. ( 17197040 )
2007
32
De novo pericentric inversion of chromosome 5 in a girl with mental retardation and unilateral ear malformation. ( 16411238 )
2006
33
Retrofacial approach of cochlear implantation in inner ear malformation with aberrant facial nerve: a case report. ( 16417982 )
2006
34
The widely patent cochleovestibular communication of Edward Cock is a distinct inner ear malformation: implications for cochlear implantation. ( 16944658 )
2006
35
Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. ( 15712197 )
2005
36
Optical and tomographic imaging of a middle ear malformation in the bullfrog (Rana catesbeiana). ( 16158670 )
2005
37
Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation. ( 15353999 )
2004
38
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
39
Congenital anomaly: middle ear malformation. ( 11433836 )
2001
40
Congenital anomaly: middle ear malformation. ( 10786379 )
2000
41
Cochlear implant in inner ear malformation: double posterior labyrinthotomy approach to common cavity. ( 11892121 )
2000
42
Neurotological evaluation of vertical semicircular canal function in inner ear malformation. A case report. ( 10545811 )
1999
43
Imaging case of the month: inner ear malformation. ( 9596193 )
1998
44
Congenital inner ear malformation. ( 9752978 )
1998
45
5-year series of constricted (lop and cup) ear corrections: development of the mastoid hitch as an adjunctive technique. ( 9858166 )
1998
46
Fistula of stapes footplate caused by pulsatile cerebrospinal fluid in inner ear malformation. ( 9166882 )
1997
47
Multichannel cochlear implantation with inner ear malformation: case report of performance and management. ( 7620201 )
1995
48
Ear malformation and hearing loss in patients with Treacher Collins syndrome. ( 8418881 )
1993
49
Ear malformation in baby born to mother using tretinoin cream. ( 1347386 )
1992
50
Cochlear implantation in the Mondini inner ear malformation. ( 3755572 )
1986

Variations for Ear Malformation

ClinVar genetic disease variations for Ear Malformation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(7;19)(q32;q13.1)dn Translocation Pathogenic
2 46;XY;inv(2)(q11.2q24.2)dn inversion Uncertain significance
3 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 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 ATOH1 EDN1 EYA1 FOXI1 NEUROD1 NEUROG1
2 cell differentiation GO:0030154 9.95 ATOH1 FGF3 FLNB FOXI1 NEUROD1 NEUROG1
3 multicellular organism development GO:0007275 9.92 ATOH1 EYA1 FGF3 FLNB GREB1L NEUROD1
4 positive regulation of transcription, DNA-templated GO:0045893 9.91 EYA1 FOXI1 NEUROD1 SOX2 TFAP2A
5 sensory perception of sound GO:0007605 9.73 EYA1 GJB2 SLC26A4 TFAP2A
6 anatomical structure morphogenesis GO:0009653 9.71 EYA1 FGF3 FOXI1
7 positive regulation of DNA-binding transcription factor activity GO:0051091 9.7 EDN1 NEUROD1 NEUROG1
8 positive regulation of neuron differentiation GO:0045666 9.65 ATOH1 NEUROD1 NEUROG1
9 cochlea morphogenesis GO:0090103 9.57 EYA1 NEUROG1
10 middle ear morphogenesis GO:0042474 9.56 EDN1 EYA1
11 cell fate commitment GO:0045165 9.56 EYA1 NEUROD1 NEUROG1 SOX2
12 regulation of pH GO:0006885 9.55 EDN1 SLC26A4
13 trigeminal nerve development GO:0021559 9.46 NEUROG1 TFAP2A
14 regulation of neuron differentiation GO:0045664 9.46 ATOH1 EYA1 NEUROD1 NEUROG1
15 inner ear morphogenesis GO:0042472 9.35 ATOH1 EYA1 FOXI1 NEUROG1 TFAP2A
16 transcription by RNA polymerase II GO:0006366 9.19 ATOH1
17 inner ear development GO:0048839 9.02 ATOH1 GJB2 NEUROD1 NEUROG1 SOX2

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 ATOH1 FOXI1 NEUROD1 SOX2 TFAP2A
2 DNA-binding transcription factor activity GO:0003700 9.43 ATOH1 FOXI1 NEUROD1 NEUROG1 SOX2 TFAP2A
3 protein dimerization activity GO:0046983 8.92 ATOH1 NEUROD1 NEUROG1 TFAP2A

Sources for Ear Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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