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Gene: Tmem43 MGI:1921372

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Gene Summary

Name:
transmembrane protein 43
Synonyms:
1200015A22Rik,  LUMA

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 0.0% (0 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of right eye

14 Images

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Eye Morphology

VIP of left eye

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

15 Images

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Eye Morphology

VIP of left fundus

14 Images

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Eye Morphology

VIP of right fundus

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Tmem43 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tmem43 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
OMIM:604400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
OMIM:614302
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ORPHA:98853

The table below shows human diseases predicted to be associated to Tmem43 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Mania, Depression OMIM:125480
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment ORPHA:2669
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy ORPHA:1513
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Craniometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology OMIM:214300
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Microtia OMIM:248910
Familial Expansile Osteolysis
Conductive hearing impairment OMIM:174810
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, EEG with generalized epileptiform discharges OMIM:617976
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:141400
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... ORPHA:79113
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia OMIM:248390
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:2213
Otofaciocervical Syndrome
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... ORPHA:2792
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Low-set ears OMIM:616910
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:3019
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment ORPHA:2698
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal ORPHA:2010
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment OMIM:618497
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Conductive hearing impairment, Abnormal antihelix morphology ORPHA:3145
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:300946
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment OMIM:619473
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Cleft Velum
Recurrent otitis media, Conductive hearing impairment ORPHA:99772
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy ORPHA:791
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment OMIM:216300
Abruzzo-Erickson Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Macrotia ORPHA:921
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Osteopetrosis, Autosomal Dominant 1
Conductive hearing impairment OMIM:607634
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... OMIM:118100
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment ORPHA:207
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Cupped ear, Microtia, Conductive hearing impairment, Abnormali... ORPHA:246
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Low-set ears OMIM:618672
Zechi-Ceide Syndrome
Abnormal earlobe morphology, Microtia, Abnormal helix morphology, Low-set ears, Conductive hearin... ORPHA:217017
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... ORPHA:2549
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th... OMIM:616367
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex... OMIM:608257
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia ORPHA:398156
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment ORPHA:3238
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:239800
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Coffin-Siris Syndrome 6
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:617808
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Abnormality of the tympanic membrane, Abnormality of the auditory ... ORPHA:66627
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... OMIM:609166
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Atresia of the external auditory ca... ORPHA:1488
Non-Functioning Paraganglioma
Conductive hearing impairment, Paroxysmal vertigo, Cranial nerve compression, Pulsatile tinnitus ORPHA:94080
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:93262
Burn-Mckeown Syndrome
Conductive hearing impairment, Hearing impairment, Protruding ear OMIM:608572
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:604804
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Conductive hearing impairment, Abnormal antihelix morphology, Abnormal antitragus morphology, Apl... ORPHA:3082
Frontonasal Dysplasia 1
Conductive hearing impairment, Low-set ears OMIM:136760
Larsen-Like Syndrome
Conductive hearing impairment, Recurrent otitis media, Low-set ears OMIM:608545
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment OMIM:601076
Johnson Neuroectodermal Syndrome
Facial palsy, Protruding ear, Microtia, Atresia of the external auditory canal, Conductive hearin... ORPHA:2316
Kbg Syndrome
EEG abnormality, Macrotia, Bilateral conductive hearing impairment ORPHA:2332
Oculoskeletodental Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hearing impairment ORPHA:557003
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... ORPHA:949
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... ORPHA:2878
Phaver Syndrome
Posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Low-set ears, Conductive hearing im... ORPHA:2876
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ear... ORPHA:1131
Agnathia-Otocephaly Complex
Conductive hearing impairment, Low-set ears, Synotia OMIM:202650
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Pulsatile tinnitus OMIM:168000
Brachycephaly, Trichomegaly, And Developmental Delay
Conductive hearing impairment, Overfolded helix, Low-set ears OMIM:617412
Fibrodysplasia Ossificans Progressiva
Conductive hearing impairment, Sensorineural hearing impairment OMIM:135100
Cleft Lip/Palate
Conductive hearing impairment, Recurrent otitis media ORPHA:199306
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... ORPHA:794
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Bilateral conductive hearing impairment, Low-set ears, Interictal epileptiform activity OMIM:617802
Rhyns Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:602152
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Acrootoocular Syndrome
Sensorineural hearing impairment, Abnormal earlobe morphology, Pseudopapilledema, Atresia of the ... ORPHA:2980
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Distal Limb Deficiencies-Micrognathia Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ears ORPHA:1307
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, S... OMIM:606164
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Low-set ears, Conduct... OMIM:613309
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology ORPHA:199302
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:617877
Mandibulofacial Dysostosis, Guion-Almeida Type
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... OMIM:610536
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Trichorhinophalangeal Syndrome Type 2
Conductive hearing impairment, Low-set, posteriorly rotated ears, Protruding ear ORPHA:502
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal, Simple ear OMIM:602471
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... ORPHA:2789
Radio-Tartaglia Syndrome
Conductive hearing impairment, Large earlobe, Low-set ears, Hearing impairment OMIM:619312
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, External ear malformation, Sensorineural hearing impairment, Low-s... ORPHA:254346
Congenital Disorder Of Glycosylation, Type Iit
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:618885
Smith-Magenis Syndrome
Conductive hearing impairment, EEG abnormality, Chronic otitis media ORPHA:819
Marshall-Smith Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:561
Treacher Collins Syndrome 2
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia OMIM:613717
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Osteogenesis Imperfecta, Type Xvi
Conductive hearing impairment, Hearing impairment OMIM:616229
Crouzon Syndrome
Conductive hearing impairment, Optic atrophy, Atresia of the external auditory canal OMIM:123500
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iig
Posteriorly rotated ears, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of the ... OMIM:611209
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Paroxysmal vertigo, Cranial nerve compression, Pulsatile tinnitus ORPHA:276621
Primary Ciliary Dyskinesia
Conductive hearing impairment, Recurrent otitis media, Chronic otitis media, Hearing impairment ORPHA:244
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia OMIM:171480
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media OMIM:244400
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Optic nerve hypoplasia OMIM:609053
Craniometaphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Optic atrophy, Facial palsy OMIM:218400
Osteopathia Striata-Cranial Sclerosis Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Facial palsy, Low-set ears ORPHA:2780
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... OMIM:616331
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media OMIM:156550
Stickler Syndrome, Type I
Conductive hearing impairment, Sensorineural hearing impairment OMIM:108300
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Optic atrophy, Atresia of the external auditory canal, Conducti... OMIM:601808
Carpenter Syndrome 1
Abnormal pinna morphology, Sensorineural hearing impairment, Optic atrophy, Low-set ears, Conduct... OMIM:201000
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Facial palsy OMIM:123000
Waardenburg Syndrome
Conductive hearing impairment, Aganglionic megacolon, Hearing impairment ORPHA:3440
Distal Deletion 19P
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ears ORPHA:96129
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears ORPHA:1297
Rabin-Pappas Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia OMIM:620155
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Sotos Syndrome
Posteriorly rotated ears, Low-set ears, Otitis media, Conductive hearing impairment, Macrotia OMIM:117550
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Atresia of the external auditory canal OMIM:106260
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Progres... OMIM:186500
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment ORPHA:2095
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... ORPHA:87
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:261197
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Hennekam-Beemer Syndrome
Conductive hearing impairment, Microtia, Optic atrophy, Hearing impairment ORPHA:2135
Down Syndrome
Conductive hearing impairment, Aganglionic megacolon, Round ear ORPHA:870
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Kapur-Toriello Syndrome
Conductive hearing impairment, Low-set ears OMIM:244300
Lateral Meningocele Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears, Abnormality of the middle ... OMIM:130720
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Microtia, Atresia of the external auditory canal, Conductive he... OMIM:615546
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Thickened helices, Mixed hearing impairment, Overfolded helix, Low-set ears OMIM:608624
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Sensorineural hearing impairment, Cupped ear, Optic disc coloboma, Low-... OMIM:300472
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment OMIM:620012
Giant Cell Arteritis
Conductive hearing impairment, Vertigo, Optic atrophy, Hearing impairment ORPHA:397
Van Maldergem Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Atresia of the externa... OMIM:601390
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment OMIM:602080
Multiple Pterygium-Malignant Hyperthermia Syndrome
Conductive hearing impairment, Posteriorly rotated ears ORPHA:2215
Otopalatodigital Syndrome, Type I
Conductive hearing impairment OMIM:311300
2Q37 Microdeletion Syndrome
Conductive hearing impairment ORPHA:1001
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Paroxysmal vertigo, Cranial nerve compression, Pulsatile tinnitus ORPHA:29072
Immunodeficiency 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:615816
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Cupped ear, Low-set ears OMIM:263750
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Autosomal Recessive Multiple Pterygium Syndrome
Conductive hearing impairment, Hearing abnormality, Low-set ears, Hearing impairment ORPHA:2990
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:90354
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Cupped ear, Low-set ears OMIM:615560
Larsen Syndrome
Conductive hearing impairment ORPHA:503
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears OMIM:235510
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Microtia ORPHA:314679
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Sensorineura... ORPHA:581
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Microtia OMIM:603467
Achondroplasia
Conductive hearing impairment, Recurrent otitis media OMIM:100800
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Conductive hearing impairment, Recurrent otitis media OMIM:250420
Oculodentodigital Dysplasia
External ear malformation, Optic atrophy, Abnormality of the ear, Conductive hearing impairment, ... ORPHA:2710
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Pgm3-Cdg
Conductive hearing impairment, Mild neurosensory hearing impairment, Chronic otitis media, Sensor... ORPHA:443811
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Shprintzen-Goldberg Craniosynostosis Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Low-set ears OMIM:182212
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment ORPHA:309288
Frontorhiny
Low-set, posteriorly rotated ears, Congenital conductive hearing impairment ORPHA:391474
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Facial palsy, Optic disc coloboma, Severe sensorineural hearing impairm... OMIM:620186
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia, Posteriorly rot... OMIM:616835
Shprintzen-Goldberg Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears, Protruding ear ORPHA:2462
Mohr Syndrome
Conductive hearing impairment OMIM:252100
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Conductive hearing impairment, Mixed hearing impairment, Overfolded helix, Sensorineural hearing ... OMIM:300990
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, High-frequency sensorineural hearing imp... OMIM:614557
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Prominent antihelix, Conductive heari... ORPHA:466943
Cornelia De Lange Syndrome 1
Abnormal incisura morphology, Sensorineural hearing impairment, Optic disc coloboma, Optic atroph... OMIM:122470
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:2754
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:277170
Codas Syndrome
Conductive hearing impairment, Crumpled ear, Sensorineural hearing impairment OMIM:600373
Cerebrooculonasal Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears OMIM:605627
Baller-Gerold Syndrome
Conductive hearing impairment ORPHA:1225
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears OMIM:618500
Bosma Arhinia Microphthalmia Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Atresia of the external auditory canal,... OMIM:603457
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:215150
Osteopathia Striata With Cranial Sclerosis
Posteriorly rotated ears, Facial palsy, Microtia, Low-set ears, Conductive hearing impairment, Ov... OMIM:300373
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Recurrent otitis media ORPHA:2502
Leukocyte Adhesion Deficiency Type Ii
Conductive hearing impairment, Small earlobe, Microtia, Recurrent otitis media ORPHA:99843
Kabuki Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Conductive hearing impairment,... ORPHA:2322
Monosomy 18Q
Sensorineural hearing impairment, Macrotia, Bilateral conductive hearing impairment ORPHA:1600
Treacher-Collins Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Narrow internal auditory ... ORPHA:861
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears, Hypoplasia of the... OMIM:618175
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal ORPHA:1393
Acro-Renal-Ocular Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic disc coloboma, Aganglionic... ORPHA:959
Frontometaphyseal Dysplasia
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... ORPHA:1826
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Cockayne Syndrome Type 3
Optic disc pallor, Adult onset sensorineural hearing impairment, Conductive hearing impairment, M... ORPHA:90324
Multiple Pterygium Syndrome, Escobar Variant
Conductive hearing impairment, Low-set ears, Exostosis of the external auditory canal OMIM:265000
3Mc Syndrome 1
Conductive hearing impairment, Hearing impairment OMIM:257920
Congenital Myopathy 13
Conductive hearing impairment, Low-set ears OMIM:255995
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Sensorineural hearing impairment, Cu... ORPHA:444077
Frontometaphyseal Dysplasia 2
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Low-s... OMIM:617137
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Feingold Syndrome Type 1
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:391641
Trisomy 8P
Conductive hearing impairment, Abnormal middle ear morphology, Posteriorly rotated ears, Aplasia/... ORPHA:264450
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Decreased nerve conduction velocity, Sensorineural hearing impairment,... ORPHA:580
Mucolipidosis Type Ii
Conductive hearing impairment, Sensorineural hearing impairment, Otitis media ORPHA:576
17Q24.2 Microdeletion Syndrome
Progressive conductive hearing impairment, Otosclerosis, Microtia, Recurrent otitis media ORPHA:529962
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conductive hearing impairment, Protruding ear ORPHA:1071
Oculodentodigital Dysplasia
Conductive hearing impairment, Abnormal pinna morphology OMIM:164200
Native American Myopathy
Conductive hearing impairment ORPHA:168572
Hunter-Macdonald Syndrome
Conductive hearing impairment, Sensorineural hearing impairment OMIM:611962
Kyphoscoliotic Ehlers-Danlos Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Low-set ears, Hearing impairment ORPHA:536545
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal pinna morphology, Abnormal earlobe morphology, Abnormal antihelix morphology, Low-set ea... ORPHA:95699
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ... OMIM:154400
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Larsen Syndrome
Conductive hearing impairment, Hearing impairment OMIM:150250
Hennekam Syndrome
Conductive hearing impairment, External ear malformation, Low-set ears ORPHA:2136
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia, Protrudi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia, Protrudi... ORPHA:352665
Faundes-Banka Syndrome
Cupped ear, Microtia, Long ear, Low-set ears, Conductive hearing impairment OMIM:619376
Treacher Collins Syndrome 1
Conductive hearing impairment, Microtia, Atresia of the external auditory canal OMIM:154500
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Bilateral conductive hearing impairment, Hearing impairment ORPHA:488642
Hajdu-Cheney Syndrome
Conductive hearing impairment, Large earlobe, Low-set ears OMIM:102500
Marshall-Smith Syndrome
Optic nerve hypoplasia, Bilateral conductive hearing impairment, Low-set ears, Overfolded helix, ... OMIM:602535
Orofaciodigital Syndrome Type 4
Microtia, third degree, Posteriorly rotated ears, Abnormality of the ear, Low-set ears, Conductiv... ORPHA:2753
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Conductive hearing impairment, Overfolded helix, Uplifted earlobe OMIM:280000
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Cranial nerve compression, Macrotia, Optic atrophy ORPHA:2785
Lathosterolosis
Conductive hearing impairment OMIM:607330
Pycnodysostosis
Mild conductive hearing impairment ORPHA:763
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Papilledema, Sensorineural hearing impairment, Optic atrophy, Conductive hearing im... ORPHA:217085
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Optic atrophy, Overfolded helix, Low-set ears, Conductive hearing impairme... ORPHA:567
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Papilledema, Sensorineural hearing impairment, Optic atrophy, Conductive hearing im... ORPHA:217093
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears ORPHA:306542
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear... ORPHA:2363
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Low-set ea... ORPHA:314585
Cardiac-Valvular Ehlers-Danlos Syndrome
Severe conductive hearing impairment ORPHA:230851
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Sensorineu... OMIM:607872
Down Syndrome
Conductive hearing impairment, Microtia, Aganglionic megacolon OMIM:190685
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:117650
Fraser Syndrome 1
Abnormal pinna morphology, Cupped ear, Atresia of the external auditory canal, Low-set ears, Cond... OMIM:219000
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage ORPHA:3042
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, EEG abnormali... ORPHA:1606
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Protruding ear, Lo... OMIM:259775
Distal Deletion 12Q
Prominent ear helix, Microtia, Bilateral conductive hearing impairment, Low-set ears ORPHA:96149
Turnpenny-Fry Syndrome
Conductive hearing impairment, Satyr ear, Microtia, Low-set ears OMIM:618371
Campomelic Dysplasia
Conductive hearing impairment, Low-set ears, Hearing impairment OMIM:114290
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic nerve hypoplasia ORPHA:79345
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ... OMIM:194190
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, EEG abnormality, Sensorineural hearing impairment, Otitis media ORPHA:353281
Acrofrontofacionasal Dysostosis 1
Mixed hearing impairment, Optic atrophy OMIM:201180
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Protruding ear ORPHA:2751
Baller-Gerold Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Optic atrophy, Low-se... OMIM:218600
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Papilledema, Absent malleus, Conductive hearing impairment, Chronic otitis media OMIM:614188
Fontaine Progeroid Syndrome
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:612289
Branchiooculofacial Syndrome
Posteriorly rotated ears, Facial palsy, Sensorineural hearing impairment, Fusion of middle ear os... OMIM:113620
Fraser Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Atresia of the external auditory ca... ORPHA:2052
Floating-Harbor Syndrome
Conductive hearing impairment, Recurrent otitis media, Posteriorly rotated ears, Low-set ears OMIM:136140
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Conductive hearing impairment, Microtia OMIM:129900
Degcags Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Unilateral conductive hearing impairm... OMIM:619488
Floating-Harbor Syndrome
Conductive hearing impairment, Cochlear malformation, Low-set ears ORPHA:2044
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Peripapillary atrophy, Mixed hearing impairment, Posteriorly rotated ears, Low-set ears ORPHA:536467
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Mixed hearing impairment, Otitis media, Sensorineural hearing impairment ORPHA:309282
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Sensorineural hearing impairment, EEG abnormality, Low-set ears, Otitis media, Conductive hearing... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Sensorineural hearing impairment, EEG abnormality, Low-set ears, Otitis media, Conductive hearing... ORPHA:353277
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Atresia of the external audi... ORPHA:199
Pseudoaminopterin Syndrome
Hypoplasia of the antihelix, Mild conductive hearing impairment, Absent earlobe, Low-set, posteri... ORPHA:221120
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Sensorineur... ORPHA:51608
Hutchinson-Gilford Progeria Syndrome
Conductive hearing impairment, Prominent ear helix, Low-frequency sensorineural hearing impairmen... ORPHA:740
Peters Plus Syndrome
Conductive hearing impairment, Microtia, second degree, Optic atrophy, Low-set, posteriorly rotat... ORPHA:709
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Sensorineural hearing impairment OMIM:272460
Otopalatodigital Syndrome, Type Ii
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:304120
Neurooculorenal Syndrome
Mixed hearing impairment, Sensorineural hearing impairment OMIM:620305
Branchioskeletogenital Syndrome
Attached earlobe, Large earlobe, Mixed hearing impairment ORPHA:1299
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Conductive hearing impairment, Low-set ears, Simple ear OMIM:201750
Robinow Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Low-set ears ORPHA:97360
Craniofacial Microsomia 1
Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditory canal, Condu... OMIM:164210
Sotos Syndrome
Aganglionic megacolon, Conductive hearing impairment, Chronic otitis media, Cholesteatoma, Hearin... ORPHA:821
Mowat-Wilson Syndrome
Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Sensorineural hearing impairme... ORPHA:2152
Osteogenesis Imperfecta
Mixed hearing impairment, Progressive hearing impairment, Hearing impairment ORPHA:666
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Focal Dermal Hypoplasia
Stenosis of the external auditory canal, Mixed hearing impairment, Optic atrophy, Low-set ears OMIM:305600
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Microtia, Cupped ear, Hearing impairment OMIM:149730
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ORPHA:98853
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
OMIM:604400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
OMIM:614302

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tmem43

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tmem43.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Haploinsufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a late-onset senescence-associated pro-fibrotic cardiomyopathy. Cardiovascular research (September 2021) Tmem43tm1a(EUCOMM)Wtsi PMC8861264
Luma is not essential for murine cardiac development and function. Cardiovascular research (March 2018) Tmem43tm1a(EUCOMM)Wtsi Tmem43tm1b(EUCOMM)Wtsi 29040414

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tmem43tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Tmem43tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Tmem43tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmem43tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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