MCID: KDS001
MIFTS: 43

Kid Syndrome

Categories: Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal 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
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 sensorineural hearing loss, 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 cryptorchidism and furrowed tongue

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 59)
# Related Disease Score Top Affiliating Genes
1 corneal disease 29.0 GJB2 GJB6
2 sensorineural hearing loss 28.5 GJB2 GJB3 GJB6
3 keratitis-ichthyosis-deafness syndrome, autosomal dominant 11.9
4 ichthyosiform erythroderma, corneal involvement, and deafness 11.1
5 ichthyosis hystrix, curth-macklin type 10.9
6 ichthyosis, hystrix-like, with deafness 10.9
7 ichthyosis follicularis atrichia photophobia syndrome 10.9
8 ichthyosis 10.5
9 deafness, autosomal recessive 93 10.1 GJB2 GJB3
10 deafness, autosomal recessive 28 10.1 GJB2 GJB3
11 deafness, autosomal dominant 24 10.0 GJB2 GJB6
12 candidiasis 10.0
13 congenital cytomegalovirus 9.9 GJB2 GJB6
14 deafness, x-linked 2 9.9 GJB2 GJB6
15 dfnb1 9.9 GJB2 GJB6
16 vohwinkel syndrome 9.9 GJB2 GJB6
17 deafness, autosomal recessive 67 9.9 GJB2 GJB3
18 deafness, autosomal recessive 23 9.9 GJB2 GJB6
19 palmoplantar keratosis 9.8 GJB2 GJB3
20 deafness, autosomal dominant 2a 9.8 GJB2 GJB6
21 deafness, autosomal recessive 16 9.8 GJB2 GJB6
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
23 cutaneous candidiasis 9.8
24 keratosis 9.8
25 squamous cell carcinoma 9.8
26 dandy-walker complex 9.8
27 deafness, autosomal dominant 3a 9.7 GJB2 GJB4
28 keratitis, hereditary 9.7 GJB2 GJB6
29 acroosteolysis 9.6
30 cerebellar hypoplasia 9.6
31 dandy-walker syndrome 9.6
32 trichilemmal cyst 1 9.6
33 ectodermal dysplasia 9.6
34 hepatitis 9.6
35 ventricular septal defect 9.6
36 chronic mucocutaneous candidiasis 9.6
37 lactic acidosis 9.6
38 arthropathy 9.6
39 dermatophytosis 9.6
40 oculodentodigital dysplasia 9.6 GJB2 GJB4
41 autosomal dominant nonsyndromic deafness 9.6 GJB2 GJB3
42 hodgkin's lymphoma, nodular sclerosis 9.4 GJB2 GJB3 GJB6
43 vestibular disease 9.4 GJB2 GJB3 GJB6
44 autosomal dominant non-syndromic sensorineural deafness type dfna 9.4 GJB2 GJB3 GJB6
45 inner ear disease 9.4 GJB2 GJB3 GJB6
46 auditory system disease 9.4 GJB2 GJB3 GJB6
47 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 GJB2 GJB3 GJB6
48 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 GJB2 GJB3 GJB6
49 deafness, autosomal recessive 9.3 GJB2 GJB3
50 nonsyndromic deafness 9.3 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 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
2 furrowed tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000221
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 keratitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000491
5 abnormality of the eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000499
6 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
7 progressive visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000529
8 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
9 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
10 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
11 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
12 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
13 urticaria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001025
14 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
15 reduced tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001315
16 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
17 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
18 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
19 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%) HP:0001800
20 hypoplastic fingernail 59 32 frequent (33%) Frequent (79-30%) HP:0001804
21 dystrophic toenail 59 32 frequent (33%) Frequent (79-30%) HP:0001810
22 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
23 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
24 oral leukoplakia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002745
25 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
26 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
27 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
28 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
29 recurrent bacterial skin infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0005406
30 generalized hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005595
31 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
32 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
33 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
34 dystrophic fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0008391
35 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
36 severe global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0011344
37 corneal neovascularization 59 32 hallmark (90%) Very frequent (99-80%) HP:0011496
38 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
39 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
40 corneal erosion 59 32 occasional (7.5%) Occasional (29-5%) HP:0200020
41 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
42 abnormality of the tongue 59 Frequent (79-30%)
43 abnormality of the dentition 59 Occasional (29-5%)
44 hearing impairment 59 Occasional (29-5%)
45 thickened skin 59 Occasional (29-5%)
46 neoplasm 59 Occasional (29-5%)

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 83)
# Title Authors Year
1
Visual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome. ( 29159249 )
2017
2
Infectious keratitis in a patient with kid syndrome. ( 28461083 )
2017
3
Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations. ( 26831144 )
2016
4
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. ( 27141831 )
2016
5
Diminution of Langerhans cells in keratitis, ichthyosis and deafness (KID) syndrome patient with recalcitrant cutaneous candidiasis. ( 26333049 )
2015
6
Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F. ( 26070424 )
2015
7
Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature. ( 25546246 )
2015
8
Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2. ( 25422938 )
2014
9
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. ( 23924173 )
2013
10
Quantitative analysis of fecal flora in goat kids with and without floppy kid syndrome. ( 23952589 )
2013
11
KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions. ( 21848689 )
2012
12
Diffuse hyperkeratosis in a deaf and blind 48-year-old woman--quiz case. Diagnosis: keratitis-ichthyosis-deafness (KID) syndrome with secondary dermatophytosis. ( 23069961 )
2012
13
[Diagnostics of keratitis-ichthyosis-deafness syndrome (KID- syndrome)]. ( 22951689 )
2012
14
Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome. ( 21777204 )
2012
15
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
16
Porokeratotic eccrine duct and hair follicle nevus (PEHFN) associated with keratitis-ichthyosis-deafness (KID) syndrome. ( 21182641 )
2010
17
Severe form of keratitis-ichthyosis-deafness (KID) syndrome associated with septic complications. ( 20629838 )
2010
18
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. ( 20230788 )
2010
19
Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography). ( 22470741 )
2010
20
Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome. ( 19590522 )
2010
21
Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. ( 20307501 )
2010
22
Keratitis, ichthyosis, and deafness (KID) syndrome associated with ventricular septal defect. ( 20465629 )
2010
23
KID syndrome patient with toe walking: a case report. ( 19466627 )
2009
24
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. ( 19793313 )
2009
25
Cochlear implantation in children with keratitis-ichthyosis-deafness (KID) syndrome: outcomes in three cases. ( 19023871 )
2009
26
A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. ( 19785089 )
2009
27
Keratitis-ichthyosis-deafness (KID) syndrome. ( 19891919 )
2009
28
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. ( 18412859 )
2008
29
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? ( 18950394 )
2008
30
Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. ( 18313767 )
2008
31
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. ( 18024254 )
2008
32
Long-term use of fluconazole for verrucous plaques of cutaneous candidiasis in KID syndrome. ( 18573732 )
2008
33
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. ( 17330861 )
2007
34
Surgical therapy in a patient with Keratosis-Ichthyosis-Deafness (KID) syndrome associated with follicular occlusion triad. ( 17673397 )
2007
35
KID syndrome. ( 18319008 )
2007
36
Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. ( 17442084 )
2007
37
A case of keratitis-ichthyosis-deafness (KID) syndrome. ( 17442083 )
2007
38
A case of keratitis ichthyosis deafness (KID) syndrome associated with Dandy-Walker. ( 17448003 )
2007
39
Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. ( 16679758 )
2006
40
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
41
What syndrome is this? KID syndrome (keratitis, ichthyosis, deafness). ( 16445421 )
2006
42
Floppy kid syndrome caused by D-lactic acidosis in goat kids. ( 16955830 )
2006
43
KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. ( 15823911 )
2005
44
[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome]. ( 16351012 )
2005
45
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. ( 15691545 )
2005
46
Two patients with severe corneal disease in KID syndrome. ( 14700667 )
2004
47
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. ( 15140211 )
2004
48
Additional aspects of keratitis, ichthyosis, and deafness (KID) syndrome. ( 15283813 )
2004
49
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. ( 12548749 )
2003
50
HID and KID syndromes are associated with the same connexin 26 mutation. ( 12072059 )
2002

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 response to lipopolysaccharide GO:0032496 9.32 GJB2 GJB6
2 aging GO:0007568 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
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49 NCI
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51 NDF-RT
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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