MCID: KDS001
MIFTS: 44

Kid Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Kid Syndrome

MalaCards integrated aliases for Kid Syndrome:

Name: Kid Syndrome 53 59
Senter Syndrome 53 59 73
Keratitis-Ichthyosis-Deafness/hystrix-Like Ichthyosis-Deafness Syndrome 53 59
Ichthyosis Hystrix Rheydt Type 53 59
Kid/hid Syndrome 53 59
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 53
Keratitis, Ichthyosis, and Deafness Syndrome 53
Keratitis-Ichthyosis-Deafness Syndrome 73
Kid Syndrome, Autosomal Dominant 53

Characteristics:

Orphanet epidemiological data:

59
kid syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: any age;

Classifications:



Summaries for Kid Syndrome

NIH Rare Diseases : 53 Keratitis-ichthyosis-deafness (KID) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss. Skin abnormalities include thick, hard skin on the underside of the hands and feet (palmoplantar keratoderma); thick, red patches of skin (erythrokeratoderma); and dry, scaly skin (ichthyosis). Eye problems are caused by keratitis (inflammation of the cornea) which can lead to pain; sensitivity to light; extra blood vessel growth; scarring; and eventual vision loss or blindness. KID syndrome is caused by mutations in the GJB2 gene. Most cases are sporadic but familial cases with autosomal dominant inheritance have been reported. Treatment focuses on the specific symptoms present.

MalaCards based summary : Kid Syndrome, also known as senter syndrome, is related to corneal disease and keratitis, hereditary, and has symptoms including photophobia An important gene associated with Kid Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, eye and tongue, and related phenotypes are intellectual disability and arthritis

Related Diseases for Kid Syndrome

Diseases related to Kid Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 corneal disease 29.6 GJB2 GJB6
2 keratitis, hereditary 29.4 GJB2 GJB6
3 ectodermal dysplasia 29.2 GJB2 GJB6
4 sensorineural hearing loss 29.1 GJB2 GJB3 GJB6
5 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.0
6 ichthyosiform erythroderma, corneal involvement, and deafness 11.2
7 ichthyosis hystrix, curth-macklin type 11.1
8 ichthyosis, hystrix-like, with deafness 11.1
9 ichthyosis follicularis atrichia photophobia syndrome 11.1
10 ichthyosis 10.6
11 candidiasis 10.1
12 deafness, autosomal dominant 3a 10.0 GJB2 GJB4
13 deafness, autosomal dominant 24 10.0 GJB2 GJB6
14 oculodentodigital dysplasia 10.0 GJB2 GJB4
15 deafness, x-linked 2 10.0 GJB2 GJB6
16 dfnb1 10.0 GJB2 GJB6
17 vohwinkel syndrome 10.0 GJB2 GJB6
18 deafness, autosomal recessive 23 10.0 GJB2 GJB6
19 congenital cytomegalovirus 10.0 GJB2 GJB6
20 deafness, autosomal dominant 2a 9.9 GJB2 GJB6
21 deafness, autosomal recessive 16 9.9 GJB2 GJB6
22 deafness, autosomal recessive 93 9.9 GJB2 GJB3
23 deafness, autosomal recessive 28 9.9 GJB2 GJB3
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
25 cutaneous candidiasis 9.9
26 keratosis 9.9
27 dandy-walker complex 9.9
28 deafness, autosomal recessive 67 9.9 GJB2 GJB3
29 drug-induced hearing loss 9.8 GJB2 GJB3
30 palmoplantar keratosis 9.8 GJB2 GJB3
31 knuckle pads, leukonychia, and sensorineural deafness 9.8 GJB2 GJB4 GJB6
32 autosomal dominant nonsyndromic deafness 9.8 GJB2 GJB3
33 hypotrichosis-deafness syndrome 9.7 GJB2 GJB3 GJB4
34 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.7 GJB2 GJB3 GJB4
35 acroosteolysis 9.7
36 cerebellar hypoplasia 9.7
37 dandy-walker syndrome 9.7
38 hepatitis 9.7
39 ventricular septal defect 9.7
40 squamous cell carcinoma 9.7
41 chronic mucocutaneous candidiasis 9.7
42 lactic acidosis 9.7
43 arthropathy 9.7
44 dermatophytosis 9.7
45 hodgkin's lymphoma, nodular sclerosis 9.7 GJB2 GJB3 GJB6
46 vestibular disease 9.7 GJB2 GJB3 GJB6
47 inner ear disease 9.7 GJB2 GJB3 GJB6
48 auditory system disease 9.7 GJB2 GJB3 GJB6
49 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB2 GJB3 GJB6
50 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GJB2 GJB3 GJB6

Graphical network of the top 20 diseases related to Kid Syndrome:



Diseases related to Kid Syndrome

Symptoms & Phenotypes for Kid Syndrome

Human phenotypes related to Kid Syndrome:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
3 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
4 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
5 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
6 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
7 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
8 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
9 generalized hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005595
10 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
11 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
12 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
13 severe global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0011344
14 corneal erosion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200020
15 progressive visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000529
16 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
17 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
18 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%) HP:0001800
19 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
20 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
21 reduced tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001315
22 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
23 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
24 keratitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000491
25 corneal neovascularization 59 32 hallmark (90%) Very frequent (99-80%) HP:0011496
26 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
27 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
28 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
29 urticaria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001025
30 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
31 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
32 furrowed tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000221
33 hypoplastic fingernail 59 32 frequent (33%) Frequent (79-30%) HP:0001804
34 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
35 dystrophic toenail 59 32 frequent (33%) Frequent (79-30%) HP:0001810
36 dystrophic fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0008391
37 oral leukoplakia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002745
38 recurrent bacterial skin infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0005406
39 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
40 hearing impairment 59 Occasional (29-5%)
41 abnormality of the dentition 59 Occasional (29-5%)
42 visual impairment 59 Very frequent (99-80%)
43 neoplasm 59 Occasional (29-5%)
44 abnormality of the eyelashes 59 Very frequent (99-80%)
45 thickened skin 59 Occasional (29-5%)
46 abnormality of the tongue 59 Frequent (79-30%)
47 abnormal eyelash morphology 32 hallmark (90%) HP:0000499

UMLS symptoms related to Kid Syndrome:


photophobia

MGI Mouse Phenotypes related to Kid Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.8 GJB2 GJB3 GJB6

Drugs & Therapeutics for Kid Syndrome

Search Clinical Trials , NIH Clinical Center for Kid Syndrome

Genetic Tests for Kid Syndrome

Anatomical Context for Kid Syndrome

MalaCards organs/tissues related to Kid Syndrome:

41
Skin, Eye, Tongue

Publications for Kid Syndrome

Articles related to Kid Syndrome:

(show top 50) (show all 85)
# Title Authors Year
1
Exome sequencing in a Chinese family reveals TTC9 mutation associated with keratitis-ichthyosis-deafness (KID) syndrome. ( 30325323 )
2018
2
Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome. ( 30150638 )
2018
3
Visual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome. ( 29159249 )
2017
4
Infectious keratitis in a patient with kid syndrome. ( 28461083 )
2017
5
Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations. ( 26831144 )
2016
6
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. ( 27141831 )
2016
7
Diminution of Langerhans cells in keratitis, ichthyosis and deafness (KID) syndrome patient with recalcitrant cutaneous candidiasis. ( 26333049 )
2015
8
Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F. ( 26070424 )
2015
9
Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature. ( 25546246 )
2015
10
Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2. ( 25422938 )
2014
11
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. ( 23924173 )
2013
12
Quantitative analysis of fecal flora in goat kids with and without floppy kid syndrome. ( 23952589 )
2013
13
KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions. ( 21848689 )
2012
14
Diffuse hyperkeratosis in a deaf and blind 48-year-old woman--quiz case. Diagnosis: keratitis-ichthyosis-deafness (KID) syndrome with secondary dermatophytosis. ( 23069961 )
2012
15
[Diagnostics of keratitis-ichthyosis-deafness syndrome (KID- syndrome)]. ( 22951689 )
2012
16
Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome. ( 21777204 )
2012
17
A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. ( 20846357 )
2011
18
Porokeratotic eccrine duct and hair follicle nevus (PEHFN) associated with keratitis-ichthyosis-deafness (KID) syndrome. ( 21182641 )
2010
19
Severe form of keratitis-ichthyosis-deafness (KID) syndrome associated with septic complications. ( 20629838 )
2010
20
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. ( 20230788 )
2010
21
Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography). ( 22470741 )
2010
22
Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome. ( 19590522 )
2010
23
Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. ( 20307501 )
2010
24
Keratitis, ichthyosis, and deafness (KID) syndrome associated with ventricular septal defect. ( 20465629 )
2010
25
KID syndrome patient with toe walking: a case report. ( 19466627 )
2009
26
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. ( 19793313 )
2009
27
Cochlear implantation in children with keratitis-ichthyosis-deafness (KID) syndrome: outcomes in three cases. ( 19023871 )
2009
28
A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. ( 19785089 )
2009
29
Keratitis-ichthyosis-deafness (KID) syndrome. ( 19891919 )
2009
30
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. ( 18412859 )
2008
31
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? ( 18950394 )
2008
32
Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. ( 18313767 )
2008
33
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. ( 18024254 )
2008
34
Long-term use of fluconazole for verrucous plaques of cutaneous candidiasis in KID syndrome. ( 18573732 )
2008
35
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. ( 17330861 )
2007
36
Surgical therapy in a patient with Keratosis-Ichthyosis-Deafness (KID) syndrome associated with follicular occlusion triad. ( 17673397 )
2007
37
KID syndrome. ( 18319008 )
2007
38
Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. ( 17442084 )
2007
39
A case of keratitis-ichthyosis-deafness (KID) syndrome. ( 17442083 )
2007
40
A case of keratitis ichthyosis deafness (KID) syndrome associated with Dandy-Walker. ( 17448003 )
2007
41
Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. ( 16679758 )
2006
42
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. ( 17106596 )
2006
43
What syndrome is this? KID syndrome (keratitis, ichthyosis, deafness). ( 16445421 )
2006
44
Floppy kid syndrome caused by D-lactic acidosis in goat kids. ( 16955830 )
2006
45
KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. ( 15823911 )
2005
46
[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome]. ( 16351012 )
2005
47
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. ( 15691545 )
2005
48
Two patients with severe corneal disease in KID syndrome. ( 14700667 )
2004
49
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. ( 15140211 )
2004
50
Additional aspects of keratitis, ichthyosis, and deafness (KID) syndrome. ( 15283813 )
2004

Variations for Kid Syndrome

Expression for Kid Syndrome

Search GEO for disease gene expression data for Kid Syndrome.

Pathways for Kid Syndrome

GO Terms for Kid Syndrome

Cellular components related to Kid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.46 GJB2 GJB3 GJB4 GJB6
2 gap junction GO:0005921 9.26 GJB2 GJB3 GJB4 GJB6
3 connexin complex GO:0005922 8.92 GJB2 GJB3 GJB4 GJB6

Biological processes related to Kid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.32 GJB2 GJB6
2 response to lipopolysaccharide GO:0032496 9.26 GJB2 GJB6
3 sensory perception of sound GO:0007605 9.16 GJB2 GJB6
4 inner ear development GO:0048839 8.96 GJB2 GJB6
5 cell communication GO:0007154 8.92 GJB2 GJB3 GJB4 GJB6

Molecular functions related to Kid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Kid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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