MCID: KRT011
MIFTS: 42

Keratitis-Ichthyosis-Deafness Syndrome

Categories: Genetic diseases, Skin diseases, Ear diseases

Aliases & Classifications for Keratitis-Ichthyosis-Deafness Syndrome

MalaCards integrated aliases for Keratitis-Ichthyosis-Deafness Syndrome:

Name: Keratitis-Ichthyosis-Deafness Syndrome 54 25 71 13 69
Kid Syndrome 25 71
Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 25
Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome 12
Keratitis, Ichthyosis, and Deafness 25
Autosomal Dominant Kid Syndrome 12
Senter Syndrome 69

Characteristics:

OMIM:

54
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:

32
keratitis-ichthyosis-deafness syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Keratitis-Ichthyosis-Deafness Syndrome

UniProtKB/Swiss-Prot : 71 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, also known as kid syndrome, is related to kid syndrome and ichthyosiform erythroderma, corneal involvement, deafness, and has symptoms including short stature, failure to thrive and myopia. An important gene associated with Keratitis-Ichthyosis-Deafness Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Development Slit-Robo signaling and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include skin, eye and tongue, and related phenotypes are craniofacial and integument

Genetics Home Reference : 25 Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.

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.

Wikipedia : 72 Keratitis–ichthyosis–deafness syndrome (also known as \"Erythrokeratodermia progressiva Burns,\"... more...

Description from OMIM: 148210

Related Diseases for Keratitis-Ichthyosis-Deafness Syndrome

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



Diseases related to Keratitis-Ichthyosis-Deafness Syndrome

Symptoms & Phenotypes for Keratitis-Ichthyosis-Deafness Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Limbs:
elbow contractures
knee contractures

Head And Neck- Eyes:
blindness
photophobia
corneal ulceration
scant eyebrows
superficial and deep corneal stromal vascularization with scarring
more
Skin Nails & Hair- Skin:
decreased sweating
congenital erythrokeratodermia
mild lamellar ichthyosis
hyperkeratosis (palms, soles, elbows, knees)

Head And Neck- Mouth:
scrotal tongue
oral leukoplakia

Immunology:
recurrent cutaneous mycoses
recurrent bacterial skin infections

Skeletal- Feet:
pes cavus
tight heel cords

Head And Neck- Ears:
sensorineural deafness

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

Skin Nails & Hair- Nails:
nail dystrophy, variable

Neoplasia:
squamous cell carcinoma (skin and tongue)


Clinical features from OMIM:

148210

Human phenotypes related to Keratitis-Ichthyosis-Deafness Syndrome:

32 (show all 34)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 failure to thrive 32 HP:0001508
3 myopia 32 HP:0000545
4 alopecia 32 HP:0001596
5 intellectual disability 32 HP:0001249
6 pes cavus 32 HP:0001761
7 blindness 32 HP:0000618
8 keratoconus 32 HP:0000563
9 photophobia 32 HP:0000613
10 hyperkeratosis 32 HP:0000962
11 elbow flexion contracture 32 HP:0002987
12 knee flexion contracture 32 HP:0006380
13 ichthyosis 32 HP:0008064
14 cirrhosis 32 HP:0001394
15 corneal ulceration 32 HP:0012804
16 corneal scarring 32 HP:0000559
17 fragile nails 32 HP:0001808
18 sparse eyelashes 32 HP:0000653
19 conjunctivitis 32 HP:0000509
20 hypohidrosis 32 HP:0000966
21 squamous cell carcinoma 32 HP:0002860
22 sensorineural hearing impairment 32 HP:0000407
23 furrowed tongue 32 HP:0000221
24 nail dystrophy 32 HP:0008404
25 nail dysplasia 32 HP:0002164
26 decreased lacrimation 32 HP:0000633
27 recurrent corneal erosions 32 HP:0000495
28 keratoconjunctivitis sicca 32 HP:0001097
29 trichiasis 32 HP:0001128
30 oral leukoplakia 32 HP:0002745
31 recurrent bacterial skin infections 32 HP:0005406
32 erythroderma 32 HP:0001019
33 sparse and thin eyebrow 32 HP:0000535
34 abnormality of corneal stroma 32 HP:0011492

UMLS symptoms related to Keratitis-Ichthyosis-Deafness Syndrome:


photophobia

MGI Mouse Phenotypes related to Keratitis-Ichthyosis-Deafness Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 GJA1 GJB2 SLC27A4
2 integument MP:0010771 9.33 GJA1 GJB2 SLC27A4
3 no phenotypic analysis MP:0003012 9.13 GJA1 GJB2 SLC27A4
4 skeleton MP:0005390 8.8 GJA1 GJB2 SLC27A4

Drugs & Therapeutics for Keratitis-Ichthyosis-Deafness Syndrome

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

Genetic Tests for Keratitis-Ichthyosis-Deafness Syndrome

Anatomical Context for Keratitis-Ichthyosis-Deafness Syndrome

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

39
Skin, Eye, Tongue, Testes, T Cells

Publications for Keratitis-Ichthyosis-Deafness Syndrome

Articles related to Keratitis-Ichthyosis-Deafness Syndrome:

(show all 38)
id Title Authors Year
1
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection. ( 28635012 )
2017
2
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26. ( 28158657 )
2017
3
Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome. ( 28111777 )
2017
4
From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome. ( 26777423 )
2016
5
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
6
Keratitis-ichthyosis-deafness syndrome with recurrent pneumonia but no mucocutaneous infection. ( 27097757 )
2016
7
A case of cutaneous vegetating candidiasis in a patient with Keratitis-Ichthyosis-Deafness Syndrome. ( 25600479 )
2015
8
Ichthyosis prematurity syndrome mimics keratitis-ichthyosis-deafness syndrome at birth: Use of electron microscopy and genetic testing. ( 26341232 )
2015
9
Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case. ( 25758847 )
2015
10
Mutations of connexin 26 (GJB2) gene in a Chinese keratitis-ichthyosis-deafness syndrome patient with squamous cell carcinoma. ( 26444850 )
2015
11
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. ( 25625422 )
2015
12
Altered inhibition of Cx26 hemichannels by pH and Zn2+ in the A40V mutation associated with keratitis-ichthyosis-deafness syndrome. ( 24939841 )
2014
13
Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss. ( 25386120 )
2014
14
Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe. ( 24531573 )
2014
15
Keratitis-ichthyosis-deafness syndrome: first affected family reported in the Middle East. ( 24741331 )
2014
16
Aberrant Connexin26 Hemichannels Underlying Keratitis-Ichthyosis-Deafness Syndrome Are Potently Inhibited by Mefloquine. ( 25229253 )
2014
17
Drowning out communication. Focus on "The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity". ( 23576574 )
2013
18
Successful treatment with alitretinoin of dissecting cellulitis of the scalp in keratitis-ichthyosis-deafness syndrome. ( 23150172 )
2013
19
Squamous cell carcinoma arising from Keratitis-ichthyosis-deafness syndrome. ( 23388822 )
2013
20
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. ( 23447037 )
2013
21
Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome. ( 21933663 )
2012
22
Possible modifier effects of keratin 17 gene mutation on keratitis-ichthyosis-deafness syndrome. ( 21999526 )
2012
23
Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patients. ( 22340753 )
2012
24
Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma. ( 22098592 )
2012
25
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
26
Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder. ( 23130264 )
2012
27
The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. ( 22031297 )
2011
28
Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? ( 22937313 )
2011
29
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
30
Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism. ( 18843290 )
2009
31
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. ( 17381453 )
2007
32
A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. ( 16877344 )
2006
33
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. ( 16885744 )
2006
34
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. ( 15633193 )
2005
35
Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. ( 16172043 )
2005
36
A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. ( 15337980 )
2004
37
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. ( 12752120 )
2003
38
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. ( 11912510 )
2002

Variations for Keratitis-Ichthyosis-Deafness Syndrome

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

71
id 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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
2 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
3 GJB2 NM_004004.5(GJB2): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs104894408 GRCh37 Chromosome 13, 20763687: 20763687
4 GJB2 NM_004004.5(GJB2): c.50C> T (p.Ser17Phe) single nucleotide variant Pathogenic rs28929485 GRCh37 Chromosome 13, 20763671: 20763671
5 GJB2 NM_004004.5(GJB2): c.148G> T (p.Asp50Tyr) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
6 GJB2 NM_004004.5(GJB2): c.134G> A (p.Gly45Glu) single nucleotide variant Pathogenic/Likely pathogenic rs72561723 GRCh37 Chromosome 13, 20763587: 20763587

Expression for Keratitis-Ichthyosis-Deafness Syndrome

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

Pathways for Keratitis-Ichthyosis-Deafness Syndrome

GO Terms for Keratitis-Ichthyosis-Deafness Syndrome

Cellular components related to Keratitis-Ichthyosis-Deafness Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJA1 GJB2
2 connexin complex GO:0005922 8.62 GJA1 GJB2

Biological processes related to Keratitis-Ichthyosis-Deafness Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.58 GJA1 GJB2 SLC27A4
2 cell-cell signaling GO:0007267 9.43 GJA1 GJB2
3 response to lipopolysaccharide GO:0032496 9.37 GJA1 GJB2
4 cell communication GO:0007154 9.32 GJA1 GJB2
5 response to retinoic acid GO:0032526 9.26 GJA1 GJB2
6 response to ischemia GO:0002931 9.16 GJA1 GJB2
7 decidualization GO:0046697 8.96 GJA1 GJB2
8 gap junction assembly GO:0016264 8.62 GJA1 GJB2

Molecular functions related to Keratitis-Ichthyosis-Deafness Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJA1 GJB2

Sources for Keratitis-Ichthyosis-Deafness Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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