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Gene: Gjb6 MGI:107588

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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

Order Alleles

IMPC Data Collections

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

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.

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 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
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment 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 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
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
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment 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
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma 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
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Deafness, Autosomal Dominant 11
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
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
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
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, Impaired Intellectual Development, 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 Recessive 120
Sensorineural hearing impairment OMIM:620238
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 Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis ORPHA:69125
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Parakeratosis, Hypergranulosis, Sensorineural hearing impairment, Palmoplantar hyperker... ORPHA:79395
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Sensorineural hearing impairment ORPHA:2574
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis ORPHA:79503
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism ORPHA:2812
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Hidrotic Ectodermal Dysplasia
Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic papule, Absent eyebro... ORPHA:189
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Keratoderma Hereditarium Mutilans
Alopecia, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis... ORPHA:494
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Mixed hearing impairment, Congenital sensorineural hearing impairment, Leukonychia, Palmoplantar ... ORPHA:2698
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... ORPHA:52368
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiom... OMIM:605362
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Sclerodactyly OMIM:212360
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Protruding ear, Follic... ORPHA:1809
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
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
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderm... OMIM:613576
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Adult onset sensorineural ... ORPHA:1368
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Protruding ear, Hyperkera... ORPHA:317
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... ORPHA:231169
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hyperkeratosis, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis ORPHA:79399
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... OMIM:148700
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrophy, Sparse ... OMIM:618625
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment OMIM:608653
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Ramon Syndrome
Conductive hearing impairment, Hyperkeratosis, Sensorineural hearing impairment, Generalized hirs... ORPHA:3019
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia OMIM:247100
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperkeratosis, Dystrophic toenail, Palmoplantar hyperkeratosis ORPHA:89838
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Sensorineural hearing impairment, Hyperkeratosis, Coarse hair, Sparse hair ORPHA:1883
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti OMIM:607903
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy, Spinocerebellar atrophy, Head tremor, Cochlear degene... ORPHA:95433
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ich... OMIM:607602
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Epidermolytic Palmoplantar Keratoderma
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... ORPHA:2199
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... ORPHA:90368
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment OMIM:600193
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:617571
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Hematuria, Benign Familial, 2
Sensorineural hearing impairment OMIM:620320
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow ORPHA:3406
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma, Nail dystrophy OMIM:616029
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Nail... OMIM:242300
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... OMIM:614594
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,... OMIM:615821
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... ORPHA:1215
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... OMIM:602400
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma ORPHA:498359
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis... 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
Leopard Syndrome 3
Curly hair, Posteriorly rotated ears, Epidermal hyperkeratosis, Sensorineural hearing impairment,... OMIM:613707
Recessive X-Linked Ichthyosis
Hyperkeratosis, Cryptorchidism, Ichthyosis ORPHA:461
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis OMIM:613943
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratotic papule ORPHA:79397
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Acquired Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis ORPHA:454
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sparse hair, Sparse body hair OMIM:224750
Deafness-Vitiligo-Achalasia Syndrome
EEG abnormality, Sensorineural hearing impairment ORPHA:3239
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Pachyonychia Congenita 1
Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis 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
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Nail dystrophy, Congenital ... ORPHA:100976
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
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Nail dystrophy ORPHA:89843
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Sensorineural hearing impairment, Follicular hyperkeratosis ORPHA:300179
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma ORPHA:312
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Hypergranulosis, Abnormal hair morphology, Hyperkeratosis, Congenital ichthyosiform ery... OMIM:242100
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... OMIM:613102
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Congenital sensorineural hearing impairment, Prematu... OMIM:612347
Lamellar Ichthyosis
Hyperkeratosis, Abnormal helix morphology, Ichthyosis, Sparse hair, Chronic otitis media, Aplasia... ORPHA:313
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... OMIM:617337
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Sensorineural hearing impairment, Pulmonic stenosis OMIM:264140
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Vertigo, Optic atrophy, Hearing impairment ORPHA:79279
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Hyperkeratosis, Low-set ears, Ichthyosis, Hypertrichosis OMIM:612379
Darier Disease
Acrokeratosis, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Subungual hype... ORPHA:218
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Fine hair, Hyperkeratosis, Sparse hair, Hearing impairment ORPHA:1806
Hereditary Sensory And Autonomic Neuropathy Type 1
Abnormality of the autonomic nervous system, Hyperkeratosis, Hearing impairment, Decreased amplit... ORPHA:36386
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Ichthyosis, Annular Epidermolytic, 2
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:620148
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Parakeratosis, Sensorineural hearing impairment, Hyperkeratosis, Ichthyosis, A... OMIM:618527
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis OMIM:615907
Classic Mycosis Fungoides
Hyperkeratosis, Alopecia ORPHA:2584
Atrophoderma Vermiculata
Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax... ORPHA:2269
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis OMIM:615023
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Intention tremor ORPHA:504476
Björnstad Syndrome
Sensorineural hearing impairment ORPHA:123
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Sensorineural hearing impairment, Absent pubic hair... OMIM:148210
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypsarrhythmia, Hyperkeratosis, Ichthyosis OMIM:610768
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Pachyonychia Congenita
Alopecia, Ear pain, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerat... ORPHA:2309
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... OMIM:606545
Ichthyosis Prematurity Syndrome
Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis OMIM:608649
Prolidase Deficiency
Low anterior hairline, Hyperkeratosis, White forelock, Palmoplantar keratoderma, Abnormality of t... ORPHA:742
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst... OMIM:308800
Lichen Planopilaris
Hyperkeratosis, Alopecia ORPHA:525
Harlequin Ichthyosis
Hyperkeratosis, Congenital ichthyosiform erythroderma, Hearing abnormality, Ichthyosis ORPHA:457
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Cryptorchidism, Testicular seminoma, Ichthyosis ORPHA:281090
Sjögren-Larsson Syndrome
Hyperkeratosis, Ichthyosis ORPHA:816
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Alopecia, Hyperkeratosis, Abnormal antihelix morphology, Abnor... ORPHA:1005
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Psoriasis 2
Hyperkeratosis, Parakeratosis OMIM:602723
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Sialidosis Type 1
Decreased nerve conduction velocity, Hyperkeratosis, Sensorineural hearing impairment, EEG abnorm... ORPHA:812
Proteus Syndrome
Hyperkeratosis OMIM:176920
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Follicular hyper... OMIM:616295
Noonan Syndrome 8
Hyperkeratosis, Cryptorchidism, Curly hair, Low-set ears OMIM:615355
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis ORPHA:158681
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Naxos Disease
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Lipoid Proteinosis
Hyperkeratosis, Thickened skin, Alopecia of scalp ORPHA:530
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Fine hair ORPHA:1028
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
Irida Syndrome
Hyperkeratosis, Ichthyosis ORPHA:209981
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Protruding ear, Hyperkeratosis, Nail dystrophy, Congenita... OMIM:601675
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis OMIM:615225
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment OMIM:606943
Donohue Syndrome
Ovarian cyst, Hyperkeratosis, Low-set ears, Acanthosis nigricans, Macrotia, Hypertrichosis OMIM:246200
Odontoonychodermal Dysplasia
Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Hypergranulosis, Sparse eyebrow,... OMIM:257980
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Follicular hyperkeratosis OMIM:615147
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism ORPHA:79431
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Bile duct ... OMIM:607626
Chilblain Lupus
Hyperkeratosis ORPHA:90280
Costello Syndrome
Low-set, posteriorly rotated ears, Abnormal hair morphology, Cryptorchidism, Hyperkeratosis, Larg... ORPHA:3071
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Atrial fibrillation, Right ventricular cardiomyopathy, Congestive heart ... OMIM:115250
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans ORPHA:409
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Acantholysis, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Sparse hair OMIM:615508
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Congenital no... OMIM:256500
7Q31 Microdeletion Syndrome
Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlar... ORPHA:251061
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis OMIM:614457
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Brittle hair, Slow-growing hair, Thickened helices, Abnormal e... ORPHA:1340
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Pachyonychia Congenita 3
Plantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Palm... OMIM:615726
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Palmoplantar kera... OMIM:604173
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Tremor, Optic atrophy, Hypertension, Macrotia, Abnormality o... ORPHA:90321
Incontinentia Pigmenti
Alopecia, Supernumerary nipple, Optic atrophy, Fine hair, Hyperkeratosis, Coarse hair, Breast apl... OMIM:308300
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Hyperkeratosis, Breast aplasia, ... ORPHA:238468
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis OMIM:618084
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Optic atrophy, Hypsarrhythmia OMIM:609180
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Ramon Syndrome
Hyperkeratosis, Optic disc pallor, Hearing impairment, Hypertrichosis OMIM:266270
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, High anterior hairline, Orthostatic hypotension, Hearing impairment OMIM:615510
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, Hearing impairment OMIM:158310
Lymphatic Malformation 12
Hydrocele testis, Hyperkeratosis OMIM:620014
Familial Keratoacanthoma
Hyperkeratosis, Adenoma sebaceum ORPHA:493
Lichen Planus Pemphigoides
Hyperkeratosis ORPHA:254478
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Cryptorchidism, Follicular hyperkeratosis ORPHA:486815
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Posteriorly rotated ears, Absent eyelashes, Optic ... OMIM:115150
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Cupped ear, Hyperkeratosis, Nail dystrophy, Hyperechogenic ... OMIM:617052
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Vertigo, Tinnitus, Hearing impairment ORPHA:79280
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Orthokeratosis, T... OMIM:308050
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Low-set ears ORPHA:163966
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma... ORPHA:79501
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Frontal upsweep of hair, Broad eyebrow OMIM:301220
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Decreased testicular siz... OMIM:610644
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic... ORPHA:909
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Werner Syndrome
Sparse scalp hair, Abnormal hair whorl, Ovarian neoplasm, Premature graying of hair, Hyperkeratos... ORPHA:902
Vulvovaginal Gingival Syndrome
Parakeratosis ORPHA:83453
Eec Syndrome
Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Externa... ORPHA:1896
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... OMIM:216400
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Psoriasis 14, Pustular
Parakeratosis, Nail dystrophy OMIM:614204
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e... OMIM:137940
Xeroderma Pigmentosum
Alopecia, Cryptorchidism, Thickened skin, Sensorineural hearing impairment, Optic atrophy, Hyperk... ORPHA:910
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Premature Aging Syndrome, Penttinen Type
Thickened skin, Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Hyperkeratosis, Sp... OMIM:601812
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Hyperkeratosis, Multinodular goiter OMIM:620189
Dowling-Degos Disease
Hyperkeratosis, Hyperkeratotic papule ORPHA:79145
Milroy Disease
Hydrocele testis, Hyperkeratosis ORPHA:79452
Chromomycosis
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule ORPHA:182
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Posteriorly rotated ears, Cryptorchidism, Hyperkeratosis, Loose an... OMIM:607721
Congenital Disorder Of Glycosylation, Type Iil
Hyperkeratosis, Optic atrophy OMIM:614576
Fucosidosis
Generalized hyperkeratosis, Hearing impairment ORPHA:349
Chime Syndrome
Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormality of the outer ear, Hearing impairment ORPHA:3474
Noonan Syndrome 2
Curly hair, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyp... OMIM:605275
Ullrich Congenital Muscular Dystrophy 1
Facial palsy, Follicular hyperkeratosis, Protruding ear OMIM:254090
Noonan Syndrome 10
Curly hair, Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Low-set ears OMIM:616564
Neonatal Lupus Erythematosus
Hyperkeratosis, Parakeratosis ORPHA:398124
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma ORPHA:28378
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Decreased response to growth hormon... OMIM:604292
Gaucher Disease, Perinatal Lethal
Hyperkeratosis, Ichthyosis, Microtia, Low-set ears, Congenital nonbullous ichthyosiform erythroderma OMIM:608013
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Absent eyebrow, Trichiasis, Trichodysplasia OMIM:601701
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Prelingual sensorineural hearing im... ORPHA:477
Mend Syndrome
Abnormal auditory evoked potentials, Aortic valve stenosis, Low-set ears ORPHA:401973
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... ORPHA:73223
Acute Radiation Syndrome
Hyperkeratosis, Vertigo ORPHA:454831
Incontinentia Pigmenti
Alopecia, Supernumerary nipple, Abnormal hair morphology, Hearing abnormality, Hyperkeratosis, Dy... ORPHA:464
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test... OMIM:129900
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis OMIM:133190
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cryptorchid... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Cryptorchid... ORPHA:363958
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis ORPHA:163525
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis ORPHA:64745
Hermansky-Pudlak Syndrome
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Long eyelashes ORPHA:79430
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Parakeratosis ORPHA:284426
De Sanctis-Cacchione Syndrome
Bilateral cryptorchidism, Parakeratosis, Optic atrophy, Sensorineural hearing impairment OMIM:278800
Autoinflammation With Arthritis And Dyskeratosis
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Leprosy
Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Abnormality of the seventh cranial ... ORPHA:548
Leprechaunism
Enlarged ovaries, Thickened skin, Acanthosis nigricans, Protruding ear, Hyperkeratosis, Low-set e... ORPHA:508
Kanzaki Disease
Vertigo, Hyperkeratosis, Sensorineural hearing impairment OMIM:609242
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, A... OMIM:308205
Bethlem Myopathy
Hyperkeratosis ORPHA:610
6Q Terminal Deletion Syndrome
Low-set, posteriorly rotated ears, Highly arched eyebrow, Low anterior hairline, Hypsarrhythmia, ... ORPHA:75857
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis OMIM:612852
Chronic Mucocutaneous Candidiasis
Hyperkeratosis ORPHA:1334
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Mixed hearing impairment, Follicular hyperkeratosis, High-frequenc... OMIM:614557
Fabry Disease
Vertigo, Sensorineural hearing impairment, Optic atrophy, Hyperkeratosis, Hearing impairment ORPHA:324
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Kyphoscoliotic Ehlers-Danlos Syndrome
Synophrys, Sensorineural hearing impairment, Low-set ears, Follicular hyperkeratosis, Conductive ... ORPHA:536545
Mycetoma
Cobblestone-like hyperkeratosis ORPHA:2583
Ectodermal Dysplasia-Skin Fragility Syndrome
Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, Alopecia univer... ORPHA:158668
Reactive Arthritis
Hyperkeratosis, Dystrophic fingernails ORPHA:29207
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Hyperparakeratosis, Ovarian serous cystadenoma, Microtia ORPHA:276280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Aganglionic megacolon, Abnormal eyelash morphology, Cryptorchidism, Abn... ORPHA:2273
Cowden Syndrome
Hearing impairment, Enlarged polycystic ovaries, Palmoplantar keratoderma, Adenoma sebaceum, Gene... ORPHA:201
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Posteriorly rotated ears, Atresia of the external auditory canal... OMIM:618175
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Hypsarrhythmia, Abnormal cochlea morphology, La... ORPHA:798
Meige Disease
Cobblestone-like hyperkeratosis ORPHA:90186
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Ovarian neoplasm... ORPHA:79474
Lymphatic Filariasis
Orchitis, Hyperkeratosis, Vaginal hydrocele, Hydrocele testis ORPHA:2035
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... ORPHA:649
Restrictive Dermopathy
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hyperkeratosis, M... OMIM:210710
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Biliary hyperplasia, Cryptorchidism, Coarse hair, Low-set ears, Cholelithiasis, Pa... ORPHA:83617
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Low-set... OMIM:275210
Kindler Epidermolysis Bullosa
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2908
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Thickened skin, Ovarian neo... ORPHA:744
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Follicular hyperkeratosis OMIM:225400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277

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.

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
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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