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 54 60
Kid/hid Syndrome 54 60 38
Senter Syndrome 54 60 74
Keratitis-Ichthyosis-Deafness/hystrix-Like Ichthyosis-Deafness Syndrome 54 60
Ichthyosis Hystrix Rheydt Type 54 60
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 54
Keratitis, Ichthyosis, and Deafness Syndrome 54
Keratitis-Ichthyosis-Deafness Syndrome 74
Kid Syndrome, Autosomal Dominant 54

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 kid/hid 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 sensorineural hearing impairment and ichthyosis

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 56)
# Related Disease Score Top Affiliating Genes
1 corneal disease 29.5 GJB2 GJB6
2 keratitis, hereditary 29.4 GJB2 GJB6
3 ectodermal dysplasia 29.1 GJB2 GJB6
4 sensorineural hearing loss 29.1 GJB2 GJB3 GJB6
5 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.1
6 ichthyosiform erythroderma, corneal involvement, and deafness 11.3
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 deafness, autosomal dominant 24 10.1 GJB2 GJB6
12 candidiasis 10.1
13 deafness, x-linked 2 10.1 GJB2 GJB6
14 dfnb1 10.1 GJB2 GJB6
15 vohwinkel syndrome 10.0 GJB2 GJB6
16 deafness, autosomal recessive 23 10.0 GJB2 GJB6
17 congenital cytomegalovirus 10.0 GJB2 GJB6
18 deafness, autosomal recessive 93 10.0 GJB2 GJB3
19 deafness, autosomal recessive 28 10.0 GJB2 GJB3
20 deafness, autosomal dominant 2a 10.0 GJB2 GJB6
21 deafness, autosomal recessive 16 10.0 GJB2 GJB6
22 deafness, autosomal recessive 67 9.9 GJB2 GJB3
23 deafness, autosomal dominant 3a 9.9 GJB2 GJB4
24 drug-induced hearing loss 9.9 GJB2 GJB3
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
26 cutaneous candidiasis 9.9
27 keratosis 9.9
28 dandy-walker complex 9.9
29 palmoplantar keratosis 9.9 GJB2 GJB3
30 oculodentodigital dysplasia 9.8 GJB2 GJB4
31 hodgkin's lymphoma, nodular sclerosis 9.7 GJB2 GJB3 GJB6
32 vestibular disease 9.7 GJB2 GJB3 GJB6
33 inner ear disease 9.7 GJB2 GJB3 GJB6
34 auditory system disease 9.7 GJB2 GJB3 GJB6
35 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 GJB2 GJB3 GJB6
36 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GJB2 GJB3 GJB6
37 acroosteolysis 9.7
38 cerebellar hypoplasia 9.7
39 dandy-walker syndrome 9.7
40 hepatitis 9.7
41 ventricular septal defect 9.7
42 squamous cell carcinoma 9.7
43 chronic mucocutaneous candidiasis 9.7
44 lactic acidosis 9.7
45 arthropathy 9.7
46 dermatophytosis 9.7
47 nonsyndromic deafness 9.7 GJB2 GJB3 GJB6
48 knuckle pads, leukonychia, and sensorineural deafness 9.6 GJB2 GJB4 GJB6
49 hypotrichosis-deafness syndrome 9.6 GJB2 GJB3 GJB4
50 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.6 GJB2 GJB3 GJB4

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:

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
3 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
4 generalized hyperkeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005595
5 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
6 keratitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000491
7 corneal neovascularization 60 33 hallmark (90%) Very frequent (99-80%) HP:0011496
8 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
9 macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0012733
10 osteolysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002797
11 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
12 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
13 oral leukoplakia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002745
14 recurrent bacterial skin infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0005406
15 abnormal eyelash morphology 33 hallmark (90%) HP:0000499
16 palmoplantar keratoderma 60 33 frequent (33%) Frequent (79-30%) HP:0000982
17 hypohidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000966
18 hypoplastic toenails 60 33 frequent (33%) Frequent (79-30%) HP:0001800
19 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596
20 fine hair 60 33 frequent (33%) Frequent (79-30%) HP:0002213
21 furrowed tongue 60 33 frequent (33%) Frequent (79-30%) HP:0000221
22 hypoplastic fingernail 60 33 frequent (33%) Frequent (79-30%) HP:0001804
23 dystrophic toenail 60 33 frequent (33%) Frequent (79-30%) HP:0001810
24 dystrophic fingernails 60 33 frequent (33%) Frequent (79-30%) HP:0008391
25 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
26 arthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001369
27 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
28 carious teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000670
29 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
30 hemiplegia/hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004374
31 delayed eruption of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000684
32 severe global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0011344
33 corneal erosion 60 33 occasional (7.5%) Occasional (29-5%) HP:0200020
34 progressive visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000529
35 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
36 reduced tendon reflexes 60 33 occasional (7.5%) Occasional (29-5%) HP:0001315
37 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
38 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
39 urticaria 60 33 occasional (7.5%) Occasional (29-5%) HP:0001025
40 squamous cell carcinoma of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0006739
41 hearing impairment 60 Occasional (29-5%)
42 abnormality of the dentition 60 Occasional (29-5%)
43 visual impairment 60 Very frequent (99-80%)
44 neoplasm 60 Occasional (29-5%)
45 abnormality of the eyelashes 60 Very frequent (99-80%)
46 thickened skin 60 Occasional (29-5%)
47 abnormality of the tongue 60 Frequent (79-30%)

UMLS symptoms related to Kid Syndrome:


photophobia

MGI Mouse Phenotypes related to Kid Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 GJB2 GJB3 GJB6 TTC9

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:

42
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
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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