KID SYNDROME
MCID: KRT028
MIFTS: 35

Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant (KID SYNDROME)

Categories: Ear diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

MalaCards integrated aliases for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

Name: Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 58 30 6 41
Keratitis-Ichthyosis-Deafness Syndrome 58 26 76 13 6 74
Kid Syndrome 26 76
Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 26
Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome 12
Keratitis, Ichthyosis, and Deafness 26
Kid Syndrome, Autosomal Dominant 58
Autosomal Dominant Kid Syndrome 12
Senter Syndrome 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
kid is an acronym of keratitis, ichthyosis, deafness
hid (hystrix-like ichthyosis with deafness, ) is identical to kid at the molecular level
onset - present at birth


HPO:

33
keratitis-ichthyosis-deafness syndrome, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 Keratitis-ichthyosis-deafness syndrome: An autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Keratitis- ichthyosis-deafness syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photophobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails.

MalaCards based summary : Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant, also known as keratitis-ichthyosis-deafness syndrome, is related to ichthyosiform erythroderma, corneal involvement, and deafness and kid syndrome, and has symptoms including photophobia An important gene associated with Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, eye and tongue, and related phenotypes are sensorineural hearing impairment and ichthyosis

Disease Ontology : 12 An autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material basis in heterozygous mutation in the GJB2 gene on chromosome 13q.

Genetics Home Reference : 26 Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.

Description from OMIM: 148210

Related Diseases for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Diseases related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 ichthyosiform erythroderma, corneal involvement, and deafness 12.7
2 kid syndrome 11.6
3 ichthyosis 11.1
4 keratitis, hereditary 11.1
5 ichthyosis hystrix, curth-macklin type 11.1
6 ichthyosis follicularis atrichia photophobia syndrome 11.1
7 squamous cell carcinoma 10.6
8 ichthyosis, hystrix-like, with deafness 10.5
9 candidiasis 10.5
10 deafness, autosomal recessive 1a 10.2
11 perifolliculitis capitis abscedens et suffodiens, familial 10.2
12 trichothiodystrophy 1, photosensitive 10.2
13 ichthyosis prematurity syndrome 10.2
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
15 ectodermal dysplasia 10.2
16 peripheral t-cell lymphoma 10.2
17 oral squamous cell carcinoma 10.2
18 lymphoma 10.2
19 hidradenitis suppurativa 10.2
20 hidradenitis 10.2
21 cellulitis 10.2
22 pneumonia 10.2
23 pityriasis lichenoides 10.2
24 pityriasis lichenoides chronica 10.2
25 streptococcal group a invasive disease 10.2
26 cutaneous candidiasis 9.9
27 corneal disease 9.9
28 keratosis 9.9
29 dandy-walker complex 9.9
30 acroosteolysis 9.7
31 vohwinkel syndrome 9.7
32 cerebellar hypoplasia 9.7
33 dandy-walker syndrome 9.7
34 hepatitis 9.7
35 joint disorders 9.7
36 sensorineural hearing loss 9.7
37 corneal neovascularization 9.7
38 ventricular septal defect 9.7
39 chronic mucocutaneous candidiasis 9.7
40 lactic acidosis 9.7
41 arthropathy 9.7
42 sebaceous adenocarcinoma 9.7
43 dermatophytosis 9.7

Graphical network of the top 20 diseases related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:



Diseases related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Symptoms & Phenotypes for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Human phenotypes related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 ichthyosis 33 HP:0008064
3 blindness 33 HP:0000618
4 photophobia 33 HP:0000613
5 hyperkeratosis 33 HP:0000962
6 nail dystrophy 33 HP:0008404
7 hypohidrosis 33 HP:0000966
8 pes cavus 33 HP:0001761
9 elbow flexion contracture 33 HP:0002987
10 keratoconjunctivitis sicca 33 HP:0001097
11 recurrent bacterial skin infections 33 HP:0005406
12 nail dysplasia 33 HP:0002164
13 furrowed tongue 33 HP:0000221
14 squamous cell carcinoma 33 HP:0002860
15 oral leukoplakia 33 HP:0002745
16 knee flexion contracture 33 HP:0006380
17 sparse eyelashes 33 HP:0000653
18 corneal ulceration 33 HP:0012804
19 trichiasis 33 HP:0001128
20 corneal scarring 33 HP:0000559
21 recurrent corneal erosions 33 HP:0000495
22 sparse and thin eyebrow 33 HP:0000535
23 abnormality of corneal stroma 33 HP:0011492

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
blindness
photophobia
keratoconjunctivitis sicca
corneal ulceration
trichiasis
more
Immunology:
recurrent bacterial skin infections
recurrent cutaneous mycoses

Skeletal Limbs:
knee contractures
elbow contractures

Head And Neck Ears:
sensorineural deafness

Skin Nails Hair Nails:
nail dystrophy, variable

Skeletal Feet:
pes cavus
tight heel cords

Head And Neck Mouth:
oral leukoplakia
scrotal tongue

Skin Nails Hair Skin:
decreased sweating
congenital erythrokeratodermia
mild lamellar ichthyosis
hyperkeratosis (palms, soles, elbows, knees)

Skin Nails Hair Hair:
scant eyebrows
scant eyelashes
scant scalp hair

Neoplasia:
squamous cell carcinoma (skin and tongue)

Clinical features from OMIM:

148210

UMLS symptoms related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:


photophobia

Drugs & Therapeutics for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Genetic Tests for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Genetic tests related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 30 GJB2

Anatomical Context for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

MalaCards organs/tissues related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

42
Skin, Eye, Tongue, T Cells, Brain, Testes

Publications for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Articles related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

(show top 50) (show all 65)
# Title Authors Year
1
Ocular Surface Stem Cell Transplantation for Treatment of Keratitis-Ichthyosis-Deafness Syndrome. ( 30371567 )
2019
2
A novel homozygous mutation of GJB2-A new variant of keratitis-ichthyosis-deafness syndrome? ( 30891482 )
2019
3
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg. ( 31099403 )
2019
4
Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome. ( 29742560 )
2018
5
Hidradenitis suppurativa in association with keratitis-ichthyosis-deafness syndrome treated with adalimumab. ( 29570225 )
2018
6
Successfully Improving Visual Acuity in Keratitis-Ichthyosis-Deafness Syndrome Utilizing Gas-Permeable Lenses: A Case Report. ( 30095531 )
2018
7
Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia. ( 29023238 )
2018
8
Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome. ( 28111777 )
2017
9
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26. ( 28158657 )
2017
10
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection. ( 28635012 )
2017
11
Cochlear Implantation in Patients with Keratitis-Ichthyosis-Deafness Syndrome: A Report of Two Cases. ( 29098103 )
2017
12
A case of cutaneous vegetating candidiasis in a patient with Keratitis-Ichthyosis-Deafness Syndrome. ( 25600479 )
2016
13
Keratitis-ichthyosis-deafness syndrome with recurrent pneumonia but no mucocutaneous infection. ( 27097757 )
2016
14
Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report. ( 27617521 )
2016
15
Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing. ( 26341232 )
2016
16
Mutations of connexin 26 (GJB2) gene in a Chinese keratitis-ichthyosis-deafness syndrome patient with squamous cell carcinoma. ( 26444850 )
2016
17
From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome. ( 26777423 )
2016
18
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. ( 25625422 )
2015
19
Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case. ( 25758847 )
2015
20
Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine. ( 25229253 )
2015
21
Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe. ( 24531573 )
2014
22
Keratitis-ichthyosis-deafness syndrome: first affected family reported in the Middle East. ( 24741331 )
2014
23
Altered inhibition of Cx26 hemichannels by pH and Zn2+ in the A40V mutation associated with keratitis-ichthyosis-deafness syndrome. ( 24939841 )
2014
24
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss. ( 25386120 )
2014
25
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. ( 24785414 )
2014
26
Successful treatment with alitretinoin of dissecting cellulitis of the scalp in keratitis-ichthyosis-deafness syndrome. ( 23150172 )
2013
27
Squamous cell carcinoma arising from Keratitis-ichthyosis-deafness syndrome. ( 23388822 )
2013
28
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. ( 23447037 )
2013
29
Drowning out communication. Focus on "The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity". ( 23576574 )
2013
30
Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome. ( 21933663 )
2012
31
Possible modifier effects of keratin 17 gene mutation on keratitis-ichthyosis-deafness syndrome. ( 21999526 )
2012
32
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. ( 22011219 )
2012
33
Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma. ( 22098592 )
2012
34
Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patients. ( 22340753 )
2012
35
Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder. ( 23130264 )
2012
36
[Diagnostics of keratitis-ichthyosis-deafness syndrome (KID- syndrome)]. ( 22951689 )
2012
37
Keratitis-ichthyosis-deafness syndrome: response to alitretinoin and review of literature. ( 21844472 )
2011
38
The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. ( 22031297 )
2011
39
The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome. ( 20926451 )
2011
40
Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? ( 22937313 )
2011
41
A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation. ( 20101161 )
2010
42
Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form. ( 20412116 )
2010
43
Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome. ( 20584891 )
2010
44
Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. ( 18843290 )
2009
45
Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation. ( 19175781 )
2009
46
Keratitis-ichthyosis-deafness syndrome lacking subjective hearing impairment. ( 18709320 )
2008
47
Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome. ( 18789090 )
2008
48
Keratitis-ichthyosis-deafness syndrome with unusual hypopigmentation. ( 19239564 )
2008
49
Cochlear implantation and connexin expression in the child with keratitis-ichthyosis-deafness syndrome. ( 18423892 )
2008
50
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. ( 17381453 )
2007

Variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Gly12Arg VAR_015453 rs104894408
2 GJB2 p.Ser17Phe VAR_015454 rs28929485
3 GJB2 p.Asp50Asn VAR_015456 rs28931594
4 GJB2 p.Asp50Tyr VAR_015935 rs28931594

ClinVar genetic disease variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant:

6 (show top 50) (show all 134)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh37 Chromosome 13, 20763620: 20763620
2 GJB2 NM_004004.5(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs35887622 GRCh38 Chromosome 13, 20189481: 20189481
3 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
4 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh38 Chromosome 13, 20189351: 20189351
5 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
6 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
7 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
8 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
9 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
10 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
11 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
12 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
13 GJB2 NM_004004.6(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
14 GJB2 NM_004004.6(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
15 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh37 Chromosome 13, 20763554: 20763554
16 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh38 Chromosome 13, 20189415: 20189415
17 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
18 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
19 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
20 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
21 GJB2 NM_004004.5(GJB2): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs104894408 GRCh37 Chromosome 13, 20763687: 20763687
22 GJB2 NM_004004.5(GJB2): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs104894408 GRCh38 Chromosome 13, 20189548: 20189548
23 GJB2 NM_004004.5(GJB2): c.50C> T (p.Ser17Phe) single nucleotide variant Pathogenic rs28929485 GRCh37 Chromosome 13, 20763671: 20763671
24 GJB2 NM_004004.5(GJB2): c.50C> T (p.Ser17Phe) single nucleotide variant Pathogenic rs28929485 GRCh38 Chromosome 13, 20189532: 20189532
25 GJB2 NM_004004.6(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
26 GJB2 NM_004004.5(GJB2): c.134G> A (p.Gly45Glu) single nucleotide variant Likely pathogenic rs72561723 GRCh38 Chromosome 13, 20189448: 20189448
27 GJB2 NM_004004.6(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh38 Chromosome 13, 20189473: 20189473
28 GJB2 NM_004004.5(GJB2): c.148G> T (p.Asp50Tyr) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
29 GJB2 NM_004004.5(GJB2): c.148G> T (p.Asp50Tyr) single nucleotide variant Pathogenic rs28931594 GRCh38 Chromosome 13, 20189434: 20189434
30 GJB2 NM_004004.6(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
31 GJB2 NM_004004.6(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh38 Chromosome 13, 20192782: 20192782
32 GJB2 NM_004004.5(GJB2): c.134G> A (p.Gly45Glu) single nucleotide variant Likely pathogenic rs72561723 GRCh37 Chromosome 13, 20763587: 20763587
33 GJB2 NM_004004.5(GJB2): c.339T> G (p.Ser113Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338946 GRCh37 Chromosome 13, 20763382: 20763382
34 GJB2 NM_004004.5(GJB2): c.339T> G (p.Ser113Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs80338946 GRCh38 Chromosome 13, 20189243: 20189243
35 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh37 Chromosome 13, 20762956: 20762956
36 GJB2 NM_004004.5(GJB2): c.*84T> C single nucleotide variant Benign rs3751385 GRCh38 Chromosome 13, 20188817: 20188817
37 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh37 Chromosome 13, 20762929: 20762929
38 GJB2 NM_004004.5(GJB2): c.*111C> T single nucleotide variant Benign rs7329857 GRCh38 Chromosome 13, 20188790: 20188790
39 GJB2 NM_004004.5(GJB2): c.*1C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111033327 GRCh37 Chromosome 13, 20763039: 20763039
40 GJB2 NM_004004.5(GJB2): c.*1C> T single nucleotide variant Conflicting interpretations of pathogenicity rs111033327 GRCh38 Chromosome 13, 20188900: 20188900
41 GJB2 NM_004004.5(GJB2): c.*3C> A single nucleotide variant Likely benign rs111033460 GRCh37 Chromosome 13, 20763037: 20763037
42 GJB2 NM_004004.5(GJB2): c.*3C> A single nucleotide variant Likely benign rs111033460 GRCh38 Chromosome 13, 20188898: 20188898
43 GJB2 NM_004004.5(GJB2): c.-22-12C> T single nucleotide variant Benign rs9578260 GRCh37 Chromosome 13, 20763754: 20763754
44 GJB2 NM_004004.5(GJB2): c.-22-12C> T single nucleotide variant Benign rs9578260 GRCh38 Chromosome 13, 20189615: 20189615
45 GJB2 NM_004004.5(GJB2): c.-45C> A single nucleotide variant Benign/Likely benign rs397516868 GRCh37 Chromosome 13, 20766944: 20766944
46 GJB2 NM_004004.5(GJB2): c.-45C> A single nucleotide variant Benign/Likely benign rs397516868 GRCh38 Chromosome 13, 20192805: 20192805
47 GJB2 NM_004004.5(GJB2): c.-6T> A single nucleotide variant Benign/Likely benign rs148136545 GRCh37 Chromosome 13, 20763726: 20763726
48 GJB2 NM_004004.5(GJB2): c.-6T> A single nucleotide variant Benign/Likely benign rs148136545 GRCh38 Chromosome 13, 20189587: 20189587
49 GJB2 NM_004004.5(GJB2): c.11G> A (p.Gly4Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs111033222 GRCh37 Chromosome 13, 20763710: 20763710
50 GJB2 NM_004004.5(GJB2): c.11G> A (p.Gly4Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs111033222 GRCh38 Chromosome 13, 20189571: 20189571

Expression for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

Search GEO for disease gene expression data for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant.

Pathways for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

GO Terms for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant

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