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 tongue, heart and 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 all 49)
# Related Disease Score Top Affiliating Genes
1 auriculocondylar syndrome 1 32.0 GNAI3 PLCB4
2 auriculo-condylar syndrome 31.6 EDN1 GNAI3 PLCB4
3 deafness, conductive stapedial, with ear malformation and facial palsy 12.0
4 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 11.9
5 cardiospondylocarpofacial syndrome 11.1
6 x-linked intellectual disability, abidi type 11.1
7 renpenning syndrome 1 11.0
8 sweeney-cox syndrome 11.0
9 brooks-wisniewski-brown syndrome 10.9
10 auriculocondylar syndrome 2 10.8
11 mondini dysplasia 10.8
12 hemifacial microsomia with radial defects 10.7
13 fraser syndrome 1 10.7
14 auriculocondylar syndrome 3 10.7
15 fraser syndrome 2 10.7
16 fraser syndrome 3 10.7
17 van maldergem syndrome 10.7
18 vacterl association 10.7
19 49, xxxxx 10.7
20 craniofacial microsomia 10.7
21 19p13.12 microdeletion syndrome 10.7
22 hodgkin's lymphoma, nodular sclerosis 10.6 GJB2 SLC26A4
23 deafness, autosomal dominant 36 10.6 GJB2 SLC26A4
24 deafness, autosomal recessive 23 10.6 GJB2 SLC26A4
25 deafness, autosomal recessive 26 10.5 GJB2 SLC26A4
26 deafness, autosomal recessive 30 10.3 GJB2 SLC26A4
27 branchiootic syndrome 1 10.3 EYA1 GJB2
28 achondrogenesis, type ib 10.3 FLNB SLC26A4
29 deafness, autosomal recessive 16 10.2 GJB2 SLC26A4
30 inner ear disease 10.2 FGF3 GJB2 SLC26A4
31 cerebellar liponeurocytoma 10.2 ATOH1 NEUROG1
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
33 autosomal recessive nonsyndromic deafness 3 10.0 GJB2 SLC26A4
34 branchiooculofacial syndrome 9.9 EYA1 TFAP2A
35 sensorineural hearing loss 9.9
36 lacrimal duct obstruction 9.8 EYA1 TFAP2A
37 meningitis 9.8
38 microtia 9.8
39 coxoauricular syndrome 9.6
40 treacher collins syndrome 1 9.6
41 scalp-ear-nipple syndrome 9.6
42 velocardiofacial syndrome 9.6
43 cerebellar hypoplasia 9.6
44 renal hypoplasia 9.6
45 synostosis 9.6
46 otosclerosis 9.6
47 vestibular disease 9.1 FOXI1 GJB2 KCNJ10 SLC26A4
48 pendred syndrome 9.1 FOXI1 GJB2 KCNJ10 SLC26A4
49 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.1 FOXI1 GJB2 KCNJ10 SLC26A4

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 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.72 FGF3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.72 FGF3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.72 TFAP2A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.72 FGF3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.72 TFAP2A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.72 TFAP2A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.72 FGF3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.72 EDN1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 TFAP2A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.72 TFAP2A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.72 FGF3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.72 EDN1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.72 TFAP2A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.72 EDN1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.72 TFAP2A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 EDN1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.72 TFAP2A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.72 FGF3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 TFAP2A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.72 EDN1 FGF3 TFAP2A
21 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.72 FGF3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.72 EDN1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.72 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 NEUROD1 NEUROG1 PLCB4 SOX2 TFAP2A FLNB
3 nervous system MP:0003631 10.25 SOX2 TFAP2A ATOH1 EDN1 EYA1 FGF3
4 hearing/vestibular/ear MP:0005377 10.22 ATOH1 EDN1 EYA1 FGF3 FOXI1 GJB2
5 cellular MP:0005384 10.2 NEUROD1 NEUROG1 SOX2 TFAP2A ATOH1 EYA1
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 EDN1 EYA1 NEUROD1 SLC26A4 SOX2 TFAP2A
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 TFAP2A ATOH1 EYA1 FLNB NEUROD1 SOX2
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 Pilot Study of Familial Nonsyndromal Mondini Dysplasia Completed NCT00004336
5 Analysis of Postoperative Bandage Use Protocols in Otoplasty Completed NCT01810497 Not Applicable
6 Earlobe Creases Predict Prognosis in Chinese Patients With Acute Myocardial Infarction Recruiting NCT02618681
7 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036
8 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463 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
Tongue, Heart, Bone, Eye

Publications for Ear Malformation

Articles related to Ear Malformation:

(show all 39)
# 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
[Investigation of SLC26A4 mutations associated with inner ear malformations]. ( 22509691 )
2012
17
[Survey of quality of life scale for patients with congenital ear malformation]. ( 22490801 )
2012
18
Recurrent meningitis in an adult secondary to an inner ear malformation: imaging demonstration. ( 22522362 )
2012
19
Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. ( 22412181 )
2012
20
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
21
Evaluation of the Carhart effect in congenital middle ear malformation with both an intact external ear canal and a mobile stapes footplate. ( 21212712 )
2011
22
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. ( 19950373 )
2010
23
Otosclerosis associated with type B-1 inner ear malformation. ( 20948592 )
2010
24
Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome? ( 20186786 )
2010
25
Chondrocyte-specific Smad4 gene conditional knockout results in hearing loss and inner ear malformation in mice. ( 19582869 )
2009
26
Narrow duplicated internal auditory canal: a rare inner ear malformation with sensorineural hearing loss. ( 19841348 )
2009
27
A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. ( 19206157 )
2009
28
A classic twin study of external ear malformations, including microtia. ( 19759387 )
2009
29
[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation]. ( 18167283 )
2007
30
SLC26A4 mutations are associated with a specific inner ear malformation. ( 17197040 )
2007
31
Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. ( 15712197 )
2005
32
Specificity of SLC26A4 mutations in the pathogenesis of inner ear malformations. ( 15905611 )
2005
33
Middle and inner ear malformations in velocardiofacial syndrome. ( 15389775 )
2004
34
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
35
Inner ear malformations and hearing loss in linear nevus sebaceous syndrome. ( 11137596 )
2000
36
Ear malformation and hearing loss in patients with Treacher Collins syndrome. ( 8418881 )
1993
37
A &amp;quot;new&amp;quot; lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. ( 6507477 )
1984
38
Management of congenital ear malformations. ( 6625450 )
1983
39
A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal. ( 7282772 )
1981

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 18)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 ATOH1 EYA1 FGF3 FLNB NEUROD1 NEUROG1
2 transcription by RNA polymerase II GO:0006366 9.91 ATOH1 FOXI1 NEUROD1 SOX2 TFAP2A
3 positive regulation of transcription, DNA-templated GO:0045893 9.89 EYA1 FOXI1 NEUROD1 SOX2 TFAP2A
4 cell differentiation GO:0030154 9.87 ATOH1 EYA1 FGF3 FLNB FOXI1 NEUROD1
5 positive regulation of transcription by RNA polymerase II GO:0045944 9.86 ATOH1 EDN1 EYA1 FOXI1 NEUROD1 NEUROG1
6 anatomical structure morphogenesis GO:0009653 9.73 EYA1 FGF3 FOXI1
7 positive regulation of DNA binding transcription factor activity GO:0051091 9.7 EDN1 NEUROD1 NEUROG1
8 sensory perception of sound GO:0007605 9.67 EYA1 GJB2 SLC26A4 TFAP2A
9 positive regulation of neuron differentiation GO:0045666 9.65 ATOH1 NEUROD1 NEUROG1
10 cell fate commitment GO:0045165 9.63 EYA1 NEUROD1 NEUROG1
11 anatomical structure development GO:0048856 9.58 EYA1 TFAP2A
12 cochlea morphogenesis GO:0090103 9.57 EYA1 NEUROG1
13 middle ear morphogenesis GO:0042474 9.55 EDN1 EYA1
14 regulation of pH GO:0006885 9.54 EDN1 SLC26A4
15 regulation of neuron differentiation GO:0045664 9.46 ATOH1 EYA1 NEUROD1 NEUROG1
16 trigeminal nerve development GO:0021559 9.43 NEUROG1 TFAP2A
17 inner ear morphogenesis GO:0042472 9.35 ATOH1 EYA1 FOXI1 NEUROG1 TFAP2A
18 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 RNA polymerase II transcription factor activity, sequence-specific DNA binding 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 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding 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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