Aliases & Classifications for Ear Malformation

MalaCards integrated aliases for Ear Malformation:

Name: Ear Malformation 57 54 6
Cup Ear 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ear malformation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 128600
MedGen 41 C0266589
SNOMED-CT via HPO 68 263681008 275259005

Summaries for Ear Malformation

MalaCards based summary : Ear Malformation, also known as cup ear, is related to auriculocondylar syndrome 1 and branchiootic syndrome 1. An important gene associated with Ear Malformation is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Signaling in Gap Junctions and Development Endothelin-1/EDNRA transactivation of EGFR. Affiliated tissues include bone, kidney and heart, and related phenotypes are abnormality of the ear and behavior/neurological

More information 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 94)
# Related Disease Score Top Affiliating Genes
1 auriculocondylar syndrome 1 31.8 PLCB4 GNAI3
2 branchiootic syndrome 1 30.6 SLC26A4 GJB2 EYA1
3 pendred syndrome 30.0 SLC26A4 KCNJ10 GJB2 FOXI1
4 ankylosis 29.9 PLCB4 GNAI3 EDN1
5 cardiospondylocarpofacial syndrome 29.9 MAP3K7 FLNB
6 waardenburg's syndrome 29.4 SLC26A4 GJB2 FOXI1 EYA1
7 sensorineural hearing loss 29.1 SOX2 SLC26A4 NEUROG1 NEUROD1 KCNJ10 GJB2
8 deafness, conductive stapedial, with ear malformation and facial palsy 11.4
9 auriculocondylar syndrome 2 11.1
10 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia 11.0
11 mondini dysplasia 11.0
12 auriculocondylar syndrome 3 10.9
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
14 autosomal recessive nonsyndromic deafness 3 10.3 SLC26A4 GJB2
15 deafness, autosomal dominant 56 10.3 SLC26A4 GJB2
16 mandibulofacial dysostosis with alopecia 10.3 GNAI3 EDN1
17 viral labyrinthitis 10.3 GJB2 ATOH1
18 deafness, autosomal recessive 7 10.2 SLC26A4 GJB2
19 deafness, autosomal recessive 77 10.2 SLC26A4 GJB2
20 deafness, autosomal dominant 41 10.2 SLC26A4 GJB2
21 deafness, autosomal dominant 6 10.2 SLC26A4 GJB2
22 auriculo-condylar syndrome 10.2 PLCB4 GNAI3 EDN1
23 serous labyrinthitis 10.2 SLC26A4 GJB2 ATOH1
24 labyrinthitis 10.2 SLC26A4 GJB2 ATOH1
25 drug-induced hearing loss 10.2 SLC26A4 GJB2 ATOH1
26 deafness, autosomal recessive 1a 10.2 SLC26A4 GJB2 ATOH1
27 meningitis 10.1
28 mollaret meningitis 10.1
29 cerebellar liponeurocytoma 10.1 NEUROG1 ATOH1
30 deafness, autosomal dominant 36 10.1 SLC26A4 GJB2
31 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 10.1 SLC26A4 KCNJ10 FOXI1
32 cochlear nerve deficiency 10.1
33 eustachian tube disease 10.1 EYA1 ATOH1
34 atelosteogenesis 10.1 MAP3K7 FLNB
35 patulous eustachian tube 10.1 EYA1 ATOH1
36 nonsyndromic hearing loss 10.1 SLC26A4 KCNJ10 GJB2
37 diabetes mellitus, neonatal, with congenital hypothyroidism 10.1 SLC26A4 NEUROD1
38 cardiomyopathy, dilated, 1j 10.1 FOXI1 EYA1
39 deafness, autosomal dominant 9 10.0 SLC26A4 GJB2
40 jervell and lange-nielsen syndrome 1 10.0 KCNJ10 GJB2 FOXI1
41 x-linked nonsyndromic deafness 10.0 SLC26A4 GJB2 EYA1
42 otitis media 10.0
43 microtia 10.0
44 stickler syndrome 10.0 SLC26A4 GJB2 EYA1
45 branchiootic syndrome 10.0 SLC26A4 FOXI1 EYA1
46 vestibular disease 9.9 SLC26A4 KCNJ10 GJB2 FOXI1
47 deafness, autosomal recessive 71 9.9 SOX2 FGF3
48 deafness, autosomal recessive 2 9.9 SLC26A4 GJB2
49 branchiooculofacial syndrome 9.9
50 cholesteatoma of middle ear 9.9

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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the ear 31 HP:0000598

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Ears:
cup pinna

Clinical features from OMIM®:

128600 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Ear Malformation:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ATOH1 EYA1 FGF3 FLNB FOXI1 KCNJ10
2 growth/size/body region MP:0005378 10.21 EDN1 EYA1 FGF3 FLNB GJB2 GREB1L
3 mortality/aging MP:0010768 10.21 ATOH1 EDN1 EYA1 FGF3 FLNB FOXI1
4 nervous system MP:0003631 10.2 ATOH1 EDN1 EYA1 FGF3 FLNB FOXI1
5 hearing/vestibular/ear MP:0005377 10.18 ATOH1 EDN1 EYA1 FGF3 FOXI1 GJB2
6 endocrine/exocrine gland MP:0005379 10.11 ATOH1 EDN1 EYA1 GREB1L NEUROD1 PLCB4
7 craniofacial MP:0005382 10.1 EDN1 EYA1 FLNB FOXI1 GJB2 GREB1L
8 digestive/alimentary MP:0005381 10.08 ATOH1 EDN1 EYA1 GREB1L NEUROD1 SLC26A4
9 renal/urinary system MP:0005367 9.8 EDN1 EYA1 FOXI1 GREB1L KCNJ10 NEUROD1
10 respiratory system MP:0005388 9.7 ATOH1 EYA1 FLNB GREB1L NEUROD1 SOX2
11 skeleton MP:0005390 9.7 EDN1 EYA1 FGF3 FLNB FOXI1 GJB2
12 vision/eye MP:0005391 9.23 EYA1 FGF3 GJB2 KCNJ10 NEUROD1 PLCB4

Drugs & Therapeutics for Ear Malformation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
2 A New Cochlear Implant Electrode With A "Cork" Type Stopper For Inner Ear Malformations Completed NCT02011867

Search NIH Clinical Center for Ear Malformation

Genetic Tests for Ear Malformation

Anatomical Context for Ear Malformation

MalaCards organs/tissues related to Ear Malformation:

40
Bone, Kidney, Heart

Publications for Ear Malformation

Articles related to Ear Malformation:

(show top 50) (show all 389)
# Title Authors PMID Year
1
Hereditary cup-shaped ears and the Pierre Robin syndrome. 57
5653870 1968
2
Microtic, lop, cup and protruding ears: four directly inheritable deformities? 57
5644613 1968
3
CONGENITAL CUP-SHAPED DEFORMITY OF THE EARS TRANSMITTED THROUGH FOUR GENERATIONS. 57
14321550 1965
4
[Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia]. 54 61
19558834 2009
5
High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients. 61 54
19707039 2009
6
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. 61 54
19040761 2008
7
[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation]. 61 54
18167283 2007
8
SLC26A4 mutations are associated with a specific inner ear malformation. 54 61
17197040 2007
9
[High prevalence of connexin-26 (GJB2) mutation in cochlear implant recipients]. 61 54
17313762 2006
10
Familial isolated unilateral large vestibular aqueduct syndrome. 61 54
12624506 2003
11
Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. 61 54
11558900 2001
12
A novel cochlear measurement that predicts inner-ear malformation. 61
33795738 2021
13
Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO. 61
33368191 2021
14
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them. 61
33438813 2021
15
Clinical and functional results after implantation of the bonebridge, a semi-implantable, active transcutaneous bone conduction device, in children and adults. 61
33674927 2021
16
A retrofacial approach of round window vibroplasty during Vibrant Soundbridge implantation for patients with congenital ear malformation. 61
33412340 2021
17
The Impact of Cumulative Cochlear Implant Wear Time on Spoken Language Outcomes at Age 3 Years. 61
33784469 2021
18
[Hearing rehabilitation with the Vibrant Soundbridge in patients with congenital middle ear malformation]. 61
33599810 2021
19
Recurrent Meningitis in Congenital Inner Ear Malformation. 61
32320299 2021
20
Cochlear Implantation in Cases of Inner Ear Malformation: A Novel and Simple Grading, Intracochlear EABR, and Outcomes of Hearing. 61
32941299 2021
21
Phenotypic similarities in pigs with SOX10c.321dupC and SOX10c.325A>T mutations implied the correlation of SOX10 haploinsufficiency with Waardenburg syndrome. 61
33766494 2021
22
[Auditory brainstem implantation]. 61
33491645 2021
23
Management of stapes footplate fistula in inner ear malformations. 61
33264678 2021
24
Rare Causes of Unilateral Sensorineural Hearing Loss in Adults: Our Experience. 61
33088770 2020
25
Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1. 61
32896090 2020
26
Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation. 61
33358777 2020
27
Current Treatments for Congenital Aural Atresia. 61
33070563 2020
28
[An analysis of surgical management of difficulties during cochlear implant with inner ear anomalies]. 61
33254298 2020
29
The French Cochlear Implant Registry (EPIIC): Perception and language results in infants with cochlear implantation under the age of 24 months. 61
32863156 2020
30
Clinical features of 22q11.2 deletion syndrome related to hearing and communication. 61
32493099 2020
31
Recurrent Meningitis Caused by β-Lactamase-Positive Amoxicillin/Clavulanate-Resistant Non-Typeable Haemophilus influenzae in a Child with an Inner Ear Malformation: A Case Report. 61
33124213 2020
32
Rounded Insertion Technique for Cochlear Implantation Surgery to Treat Cystic Inner Ear Malformation. 61
31800101 2020
33
[Treatment of spontaneous cerebrospinal fluid otorrhea in children after cochlear implant with inner ear malformation: a case report]. 61
32911890 2020
34
First branchial cleft cyst accompanied by external auditory canal atresia and middle ear malformation: A case report. 61
32913872 2020
35
Progression of hearing loss and cochlear implantation in large vestibular aqueduct syndrome. 61
32480135 2020
36
Therapeutic challenges and clinical characteristics of single-sided deafness in children. 61
32502913 2020
37
Risk factors and etiology of childhood hearing loss: a cohort review of 296 subjects. 61
32401111 2020
38
[Non-invasive correction of congenital ear deformities with the EarWell Correction System: a prospective study]. 61
30754066 2020
39
Pediatric sudden sensorineural hearing loss: Experience in a pediatric ENT emergency care center. 61
32408010 2020
40
Ear mold for congenital ear malformation: A randomized controlled trial. 61
32791720 2020
41
New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review. 61
32467182 2020
42
[Surgical management of high-grade ear malformations in childhood]. 61
32130456 2020
43
Clinical evaluation of cochlear implantation in children younger than 12 months of age. 61
32851352 2020
44
Inner-ear malformations as a cause of single-sided deafness. 61
32508296 2020
45
Correlation of air-bone gap and size of Enlarged Vestibular Aqueduct in children. 61
32032917 2020
46
Cochlear implantation in children with inner ear malformation: A multicenter study on auditory performance and speech production outcomes. 61
32006863 2020
47
A Rare Case of Bifurcated Chorda Tympani. 61
32209522 2020
48
Wideband tympanometry findings in inner ear malformations. 61
31540740 2020
49
Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients. 61
31876389 2020
50
Bimodal stimulation in children with inner ear malformation: One side cochlear implant and contralateral auditory brainstem implant. 61
31854074 2020

Variations for Ear Malformation

ClinVar genetic disease variations for Ear Malformation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18894835-21505417) copy number loss Pathogenic 523274 GRCh37: 22:18894835-21505417
GRCh38:

Copy number variations for Ear Malformation from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 125355 19 13800000 16100000 Microdeletion ADGRE5 ear malformations
2 125361 19 13800000 16100000 Microdeletion DDX39A ear malformations
3 125367 19 13800000 16100000 Microdeletion GIPC1 ear malformations
4 125373 19 13800000 16100000 Microdeletion ADGRL1 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

Pathways related to Ear Malformation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.71 PLCB4 GNAI3 GJB2
2
Show member pathways
11.62 PLCB4 GNAI3 EDN1
3 11.56 SOX2 NEUROD1 FGF3
4 10.97 PLCB4 GNAI3 EDN1
5 10.55 SOX2 PLCB4 NEUROG1 NEUROD1

GO Terms for Ear Malformation

Cellular components related to Ear Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.43 TFAP2A SOX2 NEUROG1 NEUROD1 FOXI1 ATOH1
2 astrocyte projection GO:0097449 8.62 KCNJ10 GJB2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.01 SOX2 NEUROG1 NEUROD1 GREB1L FLNB FGF3
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 TFAP2A SOX2 NEUROG1 NEUROD1 FOXI1 EYA1
3 positive regulation of transcription, DNA-templated GO:0045893 9.95 TFAP2A SOX2 NEUROD1 FOXI1 EYA1
4 cell differentiation GO:0030154 9.86 SOX2 NEUROG1 NEUROD1 FOXI1 FLNB FGF3
5 sensory perception of sound GO:0007605 9.76 TFAP2A SLC26A4 GJB2 EYA1
6 anatomical structure morphogenesis GO:0009653 9.73 SOX2 FOXI1 FGF3 EYA1
7 positive regulation of DNA-binding transcription factor activity GO:0051091 9.69 NEUROG1 NEUROD1 EDN1
8 positive regulation of neuron differentiation GO:0045666 9.67 NEUROG1 NEUROD1 ATOH1
9 cell fate commitment GO:0045165 9.62 SOX2 NEUROG1 NEUROD1 EYA1
10 cochlea morphogenesis GO:0090103 9.56 NEUROG1 EYA1
11 middle ear morphogenesis GO:0042474 9.54 EYA1 EDN1
12 regulation of pH GO:0006885 9.52 SLC26A4 EDN1
13 trigeminal nerve development GO:0021559 9.48 TFAP2A NEUROG1
14 regulation of neuron differentiation GO:0045664 9.46 NEUROG1 NEUROD1 EYA1 ATOH1
15 inner ear morphogenesis GO:0042472 9.35 TFAP2A NEUROG1 FOXI1 EYA1 ATOH1
16 inner ear development GO:0048839 9.02 SOX2 NEUROG1 NEUROD1 GJB2 ATOH1

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 9.85 TFAP2A SOX2 NEUROG1 NEUROD1 FOXI1 ATOH1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 TFAP2A SOX2 NEUROG1 NEUROD1 FOXI1 ATOH1
3 sequence-specific double-stranded DNA binding GO:1990837 9.65 TFAP2A NEUROG1 NEUROD1 FOXI1 ATOH1
4 sequence-specific DNA binding GO:0043565 9.55 TFAP2A SOX2 NEUROD1 FOXI1 ATOH1
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.35 TFAP2A SOX2 NEUROD1 FOXI1 ATOH1
6 DNA-binding transcription factor activity GO:0003700 9.1 TFAP2A SOX2 NEUROG1 NEUROD1 FOXI1 ATOH1

Sources for Ear Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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