Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
gap junction protein, beta 6
Synonyms:
Cx30,  D14Bwg0506e,  connexin 30

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gjb6 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 predicted to be associated to Gjb6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Facial Paresis, Hereditary Congenital, 2
Hearing impairment, Facial palsy OMIM:604185
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness-Oligodontia Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo ORPHA:3230
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Sensorineural hearing impairment, Hyperkeratosis ORPHA:2202
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Autosomal Recessive 2
Vertigo, Sensorineural hearing impairment, Abnormal vestibular function OMIM:600060
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 35
Abnormal ear morphology, Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 4B
Sensorineural hearing impairment, Abnormal vestibular function OMIM:614614
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... OMIM:613000
Keratosis, Focal Palmoplantar And Gingival
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... OMIM:148730
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Abnormal vestibular function OMIM:607821
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Panic Disorder 1
Anxiety OMIM:167870
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Moynahan Syndrome
Sensorineural hearing impairment, Alopecia, Hyperkeratosis, Sparse hair ORPHA:2574
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Generalized ichthyosis, Sensorineural hearing impairment, Orthokeratosis, Palmoplantar ... ORPHA:79395
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Obsessive-Compulsive Disorder
Skin-picking, Depression, Anxiety OMIM:164230
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy ORPHA:79503
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism ORPHA:2812
Angioma Serpiginosum, X-Linked
Hyperkeratosis, Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse scalp hair, Sensorineural hearing impairment, Ichthyosis, Absent eyelashes... OMIM:602540
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
Hidrotic Ectodermal Dysplasia
Thickened skin, Brittle scalp hair, Palmoplantar hyperkeratosis, Absent pubic hair, Generalized h... ORPHA:189
Trichothiodystrophy 7, Nonphotosensitive
Ichthyosis, Tiger tail banding, Brittle hair, Congenital nonbullous ichthyosiform erythroderma, F... OMIM:618546
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral regu... OMIM:616648
Keratoderma Hereditarium Mutilans
Alopecia, Sensorineural hearing impairment, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hy... ORPHA:494
Porokeratosis Of Mibelli
Porokeratosis, Hyperkeratosis ORPHA:735
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Leukonychia, Palmoplantar hyperkeratosis, Congenital sensorineural hearing... ORPHA:2698
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... OMIM:601952
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Postlingual sensorineural hearing impairment, Sensorineural hearing impairm... ORPHA:52368
Meniere Disease
Hearing impairment, Tinnitus, Vertigo OMIM:156000
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Sensorineural hearing impairment, Dilated cardiomyopathy, Congestive heart ... OMIM:605362
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Palmoplantar hyperkeratosis, Alopecia totalis, Hyperkeratosis, Nail dystrophy OMIM:212360
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Deafness, Autosomal Dominant 41
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse body hair, Sparse scalp hair, Absent eyelashes, Supernumerary nipple, Trichodysplasia, Abs... ORPHA:1809
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... OMIM:303110
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... OMIM:615024
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Pendred Syndrome
Cochlear malformation, Congenital sensorineural hearing impairment, Abnormal vestibular function OMIM:274600
Ectodermal Dysplasia-Syndactyly Syndrome 2
Macrotia, Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar ... OMIM:613576
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... ORPHA:3216
Olmsted Syndrome, X-Linked
Palmoplantar hyperkeratosis, Alopecia totalis, Parakeratosis, Palmoplantar keratoderma, Subungual... OMIM:300918
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Alopecia, Alopecia of scalp, Hyperkeratosis OMIM:136300
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis OMIM:617525
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617526
Cataract-Ataxia-Deafness Syndrome
Tremor, Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Decreased... ORPHA:1368
Erythrokeratodermia Variabilis
Alopecia, Abnormal testis morphology, Patchy palmoplantar hyperkeratosis, Abnormal hair morpholog... ORPHA:317
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Palmar hyperkeratosis, Nail dystrophy, Plantar hyperkeratosis ORPHA:79399
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Usher Syndrome Type 1
Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Vestib... ORPHA:231169
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia OMIM:247100
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratos... OMIM:148700
Rothmund-Thomson Syndrome, Type 1
Absent eyelashes, Recurrent otitis media, Absent eyebrow, Hyperkeratosis, Sparse hair, Nail dystr... OMIM:618625
Ramon Syndrome
Sensorineural hearing impairment, Hyperkeratosis, Conductive hearing impairment, Generalized hirs... ORPHA:3019
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment OMIM:608653
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Hyperkeratosis, Palmoplantar hyperkeratosis ORPHA:89838
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar hyperkeratosis, Woolly hair, Parakeratosis, Palmoplantar kerat... OMIM:619208
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Difficulty walking, Depression, Anxiety OMIM:619191
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Brittle hair, Coarse hair, Hyperkeratosis, Sparse hair ORPHA:1883
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231183
Abcd Syndrome
Total intestinal aganglionosis, Albinism, White eyelashes, Abnormal auditory evoked potentials, W... OMIM:600501
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Hypotrichosis 6
Sparse eyebrow, Pili torti, Brittle hair, Follicular hyperkeratosis, Sparse eyelashes, Sparse hair OMIM:607903
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... OMIM:604117
Peeling Skin Syndrome 4
Ichthyosis, Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy OMIM:607936
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Conjunctival telangiectasia, Head tremor, Spinocerebellar atrophy, Cochlear degene... ORPHA:95433
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Brittle hair, Epidermal hyperkeratosis, Plantar hyperkerat... OMIM:104100
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormal eyelash morphology, Patchy alopeci... ORPHA:573
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Sparse hair, Nail dystrophy, Perifollicular ... OMIM:158000
Siddiqi Syndrome
Limb dystonia, Sensorineural hearing impairment OMIM:618635
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Epidermolytic Palmoplantar Keratoderma
Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma... ORPHA:2199
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Congenital sensorineural hearing impairment, Abnormal vestibular function OMIM:619553
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment OMIM:600193
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Abnormal vestibular function OMIM:276902
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Fine hair, Slow-gr... ORPHA:90368
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
Ulerythema Ophryogenesis
Hyperkeratotic papule, Sparse lateral eyebrow, Follicular hyperkeratosis ORPHA:3406
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Brittle hair, Fine hair, Hyperkeratosis ORPHA:1573
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Sensorineural hearing impairment, Nail dystrophy OMIM:616029
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... OMIM:242300
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ichthyosis, Leukonychia, Woolly hair, Parakeratosis, Palmoplantar keratoderma, Hyperkeratosis, Na... OMIM:615821
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Congenital sensorineura... OMIM:220400
Acrokeratosis Verruciformis Of Hopf
Leukonychia, Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, H... ORPHA:79151
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Cryptorchidism ORPHA:461
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Curly eyelashes, Sparse e... OMIM:602400
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma ORPHA:498359
Bazex Syndrome
Yellow nails, Parakeratosis, Palmoplantar keratoderma, Acanthosis nigricans, Hyperkeratosis, Nail... ORPHA:166113
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Leopard Syndrome 3
Curly hair, Sensorineural hearing impairment, Epidermal hyperkeratosis, Low posterior hairline, L... OMIM:613707
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Sensorineural hearing impairment, Hearing impairment OMIM:616684
Olmsted Syndrome 1
Orthokeratosis, Alopecia universalis, Parakeratosis, Subungual hyperkeratosis, Hyperparakeratosis... OMIM:614594
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis, Nail dystrophy ORPHA:79397
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Ichthyosis, Hypergranulosis, Orthokeratosis OMIM:613943
Infantile Digital Fibromatosis
Parakeratosis, Hyperkeratosis ORPHA:199267
Pityriasis Rubra Pilaris
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:173200
Acquired Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis ORPHA:454
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... ORPHA:100084
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Pachyonychia Congenita 1
Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Nail dystrophy OMIM:167200
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Pilodental Dysplasia With Refractive Errors
Brittle scalp hair, Sparse scalp hair, Follicular hyperkeratosis, Brittle hair OMIM:262020
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Bathing Suit Ichthyosis
Alopecia, Thickened skin, Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyos... ORPHA:100976
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Cole Disease
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, H... OMIM:615522
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy ORPHA:89843
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Bilateral sensorineural hearing impairment, Tinnitus, High-frequency hearing impairment OMIM:605594
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... ORPHA:705
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Sensorineural hearing impairment, Follicular hyperkeratosis ORPHA:300179
Autosomal Dominant Epidermolytic Ichthyosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratosis, Ichthyosis ORPHA:312
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617992
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Abnormal hair morphol... OMIM:242100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Cerebral at... OMIM:619260
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Hypotrichosis And Recurrent Skin Vesicles
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Follicula... OMIM:613102
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Lamellar Ichthyosis
Aplasia/Hypoplasia of the eyebrow, Ichthyosis, Hyperkeratosis, Sparse hair, Chronic otitis media,... ORPHA:313
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon, Sensorineural hearing impairment ORPHA:2155
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Sensorineural hearing impairment, Pulmonic stenosis OMIM:264140
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis OMIM:133200
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypoplastic sweat glands, Trichorrhexis nodosa, Sparse lateral eyebrow, Orthokeratosis, Scarring ... OMIM:617337
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Hearing impairment, Optic atrophy, Vertigo ORPHA:79279
Ichthyosis, Congenital, Autosomal Recessive 6
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... OMIM:612281
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Lymphatic Malformation 4
Hyperkeratosis, Hydrocele testis OMIM:615907
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Optic atrophy, Low-set ears, Hyperkeratosis, Hypertrichosis OMIM:612379
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Sensorineural hearing impairment, Short-segment aganglionic megacolon OMIM:619465
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Hyperkeratosis, Sparse hair, Hearing impairment, Protruding ear ORPHA:1806
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea... ORPHA:107
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Abnormality of the autonomic nervous system, Decreased amplitude of sensory actio... ORPHA:36386
Hereditary Mucoepithelial Dysplasia
Alopecia, Hyperkeratosis, Sparse hair, Fine hair ORPHA:1839
Classic Mycosis Fungoides
Alopecia, Hyperkeratosis ORPHA:2584
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Sensorineural hearing impairment, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis... OMIM:618527
Atrophoderma Vermiculata
Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Branchiootic Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormality of the... ORPHA:52429
Björnstad Syndrome
Sensorineural hearing impairment ORPHA:123
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Generalized ichthyosis, Alopecia of scalp, Absent pubic hair, Generalized hyperke... ORPHA:2269
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis OMIM:615023
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis ORPHA:38
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Hyperkeratosis OMIM:618339
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyebrow, Sensorineural hearing impairment, Ichthyosis, Absent axillary hair, Absent pubic ... OMIM:148210
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Alopecia, Ichthyosis, Hypsarrhythmia, Sparse eyelashes, Hyperkeratosis OMIM:610768
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Testicular seminoma, Ichthyosis, Cryptorchidism ORPHA:281090
Pachyonychia Congenita
Alopecia, Ear pain, Palmar hyperkeratosis, Linear arrays of macular hyperkeratoses in flexural ar... ORPHA:2309
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Hand tremor, Cervical spin... ORPHA:101085
Prolidase Deficiency
Abnormality of the middle ear, White forelock, Hirsutism, Hyperkeratosis, Palmoplantar keratoderm... ORPHA:742
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis OMIM:148500
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythro... OMIM:606545
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Scarring alopecia of scalp, Follicular hyperkeratosis, Sparse eyelashes, Palmopla... OMIM:308800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Orthokeratosis, Acantholysis, Palmoplantar keratoderma, Sparse hair OMIM:615508
Lichen Planopilaris
Alopecia, Hyperkeratosis ORPHA:525
Ichthyosis Prematurity Syndrome
Generalized ichthyosis, Alopecia of scalp, Follicular hyperkeratosis OMIM:608649
Paragangliomas 1
Glomus jugular tumor, Elevated circulating catecholamine level, Glomus tympanicum paraganglioma, ... OMIM:168000
Paragangliomas 3
Glomus jugular tumor, Elevated circulating catecholamine level, Chemodectoma, Paraganglioma, Extr... OMIM:605373
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Harlequin Ichthyosis
Hearing abnormality, Hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythroderma ORPHA:457
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Alopecia, Macrotia, Ichthyosis, Low-set, posteriorly rotated ears,... ORPHA:1005
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Sjögren-Larsson Syndrome
Hyperkeratosis, Ichthyosis ORPHA:816
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Psoriasis 2
Parakeratosis, Hyperkeratosis OMIM:602723
Proteus Syndrome
Hyperkeratosis OMIM:176920
Noonan Syndrome 8
Low-set ears, Hyperkeratosis, Curly hair, Cryptorchidism OMIM:615355
Sialidosis Type 1
Hyperkeratosis, Decreased nerve conduction velocity, Sensorineural hearing impairment, EEG abnorm... ORPHA:812
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Leukonychia, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Follicular hyper... OMIM:616295
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... OMIM:609136
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Abnormal vestibular function OMIM:606943
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair, Congenital nonbullous ichthy... OMIM:256500
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy ORPHA:158681
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Orthok... OMIM:604777
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Fine hair ORPHA:1028
Lipoid Proteinosis
Alopecia of scalp, Thickened skin, Hyperkeratosis ORPHA:530
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Naxos Disease
Sparse body hair, Sparse eyebrow, Curly hair, Woolly hair, Palmoplantar keratoderma, Diffuse palm... OMIM:601214
Infantile Krabbe Disease
Opisthotonus, Optic atrophy, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Abnor... ORPHA:206436
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Nail dystrophy OMIM:615225
Trichothiodystrophy 1, Photosensitive
Macrotia, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Protruding ear, Fin... OMIM:601675
Donohue Syndrome
Macrotia, Hypertrichosis, Acanthosis nigricans, Ovarian cyst, Hyperkeratosis, Low-set ears OMIM:246200
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Odontoonychodermal Dysplasia
Sparse body hair, Dystrophic toenail, Dry hair, Sparse scalp hair, Sparse eyebrow, Hypergranulosi... OMIM:257980
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Oculocutaneous Albinism Type 1A
Albinism, Hypopigmentation of hair, Hyperkeratosis, Thickened skin ORPHA:79431
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis OMIM:615147
Costello Syndrome
Woolly hair, Large earlobe, Acanthosis nigricans, Cryptorchidism, Low-set, posteriorly rotated ea... ORPHA:3071
Chilblain Lupus
Hyperkeratosis ORPHA:90280
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Bone Marrow Failure Syndrome 3
Aplasia/Hypoplasia of the eyebrow, Hearing impairment, Cryptorchidism, Hyperkeratosis, Cupped ear... OMIM:617052
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Ichthyosis, Orthokeratosis, Parakeratosis, Bile duct proliferation, Spa... OMIM:607626
Collagenoma, Familial Cutaneous
Cardiomyopathy, Sensorineural hearing impairment, Right ventricular cardiomyopathy, Tricuspid reg... OMIM:115250
Cardiofaciocutaneous Syndrome
Aplasia/Hypoplasia of the eyebrow, Macrotia, Ichthyosis, Optic atrophy, Brittle hair, EEG abnorma... ORPHA:1340
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:614457
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Pachyonychia Congenita 3
Plantar hyperkeratosis, Palmar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosi... OMIM:615726
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Poikiloderma With Neutropenia
Sparse eyebrow, Sparse lateral eyebrow, Plantar hyperkeratosis, Recurrent otitis media, Hyperkera... OMIM:604173
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Incontinentia Pigmenti
Atrophic, patchy alopecia, Alopecia, Optic atrophy, Breast aplasia, Supernumerary nipple, Fine ha... OMIM:308300
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Mogs-Cdg
Absent brainstem auditory responses, Dystonia, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Lymphatic Malformation 12
Hyperkeratosis, Hydrocele testis OMIM:620014
Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized hypopigmentation of hair, Br... ORPHA:238468
Ramon Syndrome
Hearing impairment, Hyperkeratosis, Optic disc pallor, Hypertrichosis OMIM:266270
Mucoepithelial Dysplasia, Hereditary
Alopecia, Hearing impairment, Sparse hair, Coarse hair, Follicular hyperkeratosis, Nail dystrophy OMIM:158310
Congenital Disorder Of Glycosylation, Type If
Hypsarrhythmia, Hyperkeratosis, Optic atrophy OMIM:609180
Peeling Skin Syndrome 6
Parakeratosis, Orthokeratosis OMIM:618084
Familial Keratoacanthoma
Hyperkeratosis, Adenoma sebaceum ORPHA:493
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte... ORPHA:1435
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Follicular hyperkeratosis, Cryptorchidism ORPHA:486815
Lichen Planus Pemphigoides
Hyperkeratosis ORPHA:254478
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Curly hair, Ichthyosis, Absent eyelashes, Large earlobe, Absent eyebrow, L... OMIM:115150
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, High anterior hairline, Hyperkeratosis, Hearing impairment OMIM:615510
Trisomy 10P
Macrotia, Low voltage EEG, Simplified gyral pattern, Abnormal auditory evoked potentials, Abnorma... ORPHA:171929
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Hearing impairment, Tinnitus, Vertigo ORPHA:79280
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Sclerodactyly, Decreased testicular size, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma... OMIM:610644
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Hyperkeratosis ORPHA:163966
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Orthokeratosis, Thyroid hypoplasia, Parakeratosis, Hyperkeratosis, Congenital ichthyosi... OMIM:308050
Porokeratosis
Hyperkeratosis ORPHA:79358
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Pa... ORPHA:79501
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Frontal upsweep of hair, Broad eyebrow, Hyperkeratosis OMIM:301220
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Sparse hair, Coarse hair OMIM:118650
Werner Syndrome
Sparse scalp hair, Pili torti, Premature graying of hair, Abnormal testis morphology, White forel... ORPHA:902
Milroy Disease
Hyperkeratosis, Hydrocele testis ORPHA:79452
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Resting trem... ORPHA:909
Vulvovaginal Gingival Syndrome
Parakeratosis ORPHA:83453
Eec Syndrome
Sparse eyebrow, Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, ... ORPHA:1896
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Hypertensio... OMIM:216400
Xeroderma Pigmentosum
Alopecia, Thickened skin, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Decre... ORPHA:910
Premature Aging Syndrome, Penttinen Type
Thickened skin, Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hea... OMIM:601812
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Epidermal hyperkeratosis, Absent... OMIM:137940
Psoriasis 14, Pustular
Parakeratosis, Nail dystrophy OMIM:614204
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Hypertensio... OMIM:133540
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Loose anagen hair, Ichthyosis, Long eyelashes, Cryptorchidism, Low... OMIM:607721
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Optic atrophy OMIM:614576
Chromomycosis
Hyperkeratosis, Hyperkeratotic papule, Hyperparakeratosis ORPHA:182
Dowling-Degos Disease
Hyperkeratosis, Hyperkeratotic papule ORPHA:79145
Noonan Syndrome 2
Sparse eyebrow, Curly hair, Cryptorchidism, Low posterior hairline, Low-set ears, Hyperkeratosis,... OMIM:605275
Fucosidosis
Hearing impairment, Generalized hyperkeratosis ORPHA:349
Chime Syndrome
Ichthyosis, Fine hair, Abnormality of the outer ear, Hyperkeratosis, Sparse hair, Hearing impairment ORPHA:3474
Noonan Syndrome 10
Sparse eyebrow, Curly hair, Cryptorchidism, Low-set ears, Hyperkeratosis OMIM:616564
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse eyebrow, Sparse scalp hair, Decreased response to growth hormone stimulation test, Microti... OMIM:604292
Ullrich Congenital Muscular Dystrophy 1
Follicular hyperkeratosis, Protruding ear, Facial palsy OMIM:254090
Neonatal Lupus Erythematosus
Parakeratosis, Hyperkeratosis ORPHA:398124
Gaucher Disease, Perinatal Lethal
Ichthyosis, Microtia, Congenital nonbullous ichthyosiform erythroderma, Low-set ears, Hyperkeratosis OMIM:608013
Tyrosinemia Type 2
Palmoplantar keratoderma, Hyperkeratosis ORPHA:28378
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Absent eyebrow, Trichodysplasia, Trichiasis OMIM:601701
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Hypoplastic sweat glands, Thickened skin, EEG abnormality, Epidermal thickening, Synophrys, Ortho... ORPHA:73223
Mend Syndrome
Aortic valve stenosis, Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Kid Syndrome
Sparse eyebrow, Prelingual sensorineural hearing impairment, Scarring alopecia of scalp, Follicul... ORPHA:477
Incontinentia Pigmenti
Dystrophic toenail, Alopecia, Hearing abnormality, Supernumerary nipple, Abnormal hair morphology... ORPHA:464
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse eyebrow, Sparse scalp hair, Decreased response to growth hormone stimulation test, Conduct... OMIM:129900
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Sensorineural hearing impairment ORPHA:99
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Macrotia, Decreased response to growth hormone stimulation test, Ichthyosis, EEG abnorm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Macrotia, Decreased response to growth hormone stimulation test, Ichthyosis, EEG abnorm... ORPHA:363958
De Sanctis-Cacchione Syndrome
Parakeratosis, Bilateral cryptorchidism, Sensorineural hearing impairment, Optic atrophy OMIM:278800
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Hyperkeratosis, Thickened skin, Long eyelashes ORPHA:79430
Juvenile Idiopathic Arthritis
Thickened skin, Generalized hyperkeratosis ORPHA:92
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis ORPHA:284426
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis ORPHA:64745
Autoinflammation With Arthritis And Dyskeratosis
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Leprosy
Sparse body hair, Alopecia, Testicular mass, Abnormal autonomic nervous system physiology, Absent... ORPHA:548
Leprechaunism
Thickened skin, Facial hypertrichosis, Acanthosis nigricans, Enlarged ovaries, Low-set ears, Hype... ORPHA:508
Kanzaki Disease
Hyperkeratosis, Sensorineural hearing impairment, Vertigo OMIM:609242
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Alopecia, Sparse scalp hair, Absent eyelashes, Aganglionic megacolon, Ichthyosis follicularis, He... OMIM:308205
6Q Terminal Deletion Syndrome
Hypsarrhythmia, Low-set, posteriorly rotated ears, Hyperkeratosis, Highly arched eyebrow, Low ant... ORPHA:75857
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hyperkeratosis OMIM:612852
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Follicular hyperkeratosis, Mixed hearing impairment, High-frequenc... OMIM:614557
Fabry Disease
Sensorineural hearing impairment, Optic atrophy, Vertigo, Hyperkeratosis, Hearing impairment ORPHA:324
Chronic Mucocutaneous Candidiasis
Hyperkeratosis ORPHA:1334
Kyphoscoliotic Ehlers-Danlos Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Synophrys, Low-set ears, Follicu... ORPHA:536545
Clouston Syndrome
Alopecia, Sparse eyebrow, Brittle hair, Palmoplantar hyperkeratosis, Alopecia totalis, Fine hair,... OMIM:129500
Reactive Arthritis
Hyperkeratosis, Dystrophic fingernails ORPHA:29207
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Nail dyst... ORPHA:158668
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Hydrocele testis, Ovarian serous cystadenoma, Microtia ORPHA:276280
Rare Cutaneous Lupus Erythematosus
Leukonychia, Scarring alopecia of scalp, Alopecia of scalp, Abnormal earlobe morphology, Follicul... ORPHA:535
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Alopecia, Macrotia, Ichthyosis, Aganglionic megacolon, Thin eyebrow, Absent eyebrow, Abnormal eye... ORPHA:2273
Cowden Syndrome
Enlarged polycystic ovaries, Adenoma sebaceum, Generalized hyperkeratosis, Palmoplantar keratoder... ORPHA:201
Warburg-Cinotti Syndrome
Conductive hearing impairment, Cholesteatoma, Hypoplasia of the ear cartilage, Low-set ears, Foll... OMIM:618175
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Cerebral cortical atrophy, Aganglionic megacolon, Hyp... ORPHA:798
Lymphatic Filariasis
Vaginal hydrocele, Hyperkeratosis, Hydrocele testis, Orchitis ORPHA:2035
Meige Disease
Cobblestone-like hyperkeratosis ORPHA:90186
Atypical Werner Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Pili torti, Abnormal testis morpho... ORPHA:79474
Norrie Disease
Macrotia, Sensorineural hearing impairment, Cerebral cortical atrophy, Optic atrophy, EEG abnorma... ORPHA:649
Restrictive Dermopathy
Sparse eyebrow, Short nail, Epidermal hyperkeratosis, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Sparse scalp hair, Microtia, Fine hair, Cryptorchidism, Sparse eyelashes, Hyperke... OMIM:210710
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, Coarse hair, Parakeratosis, Cryptorchidism, Low-set e... ORPHA:83617
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Elevated circulating catecholamine level, Pancreatic islet cell adeno... ORPHA:892
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2908
Restrictive Dermopathy 1
Sparse eyebrow, Aplasia/Hypoplasia of the eyebrow, Absent eyelashes, Short nail, Epidermal hyperk... OMIM:275210
Proteus Syndrome
Macroorchidism, Macrotia, Narrow internal auditory canal, Enlarged polycystic ovaries, Thickened ... ORPHA:744
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Follicular hyperkeratosis OMIM:225400

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 Gjb6

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 Gjb6.

No publications found that use IMPC mice or data for Gjb6.

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MGI Allele Allele Type Produced
Gjb6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gjb6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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