MCID: KDS001
MIFTS: 44

Kid Syndrome

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

Aliases & Classifications for Kid Syndrome

MalaCards integrated aliases for Kid Syndrome:

Name: Kid Syndrome 49 55
Senter Syndrome 49 55 69
Keratitis-Ichthyosis-Deafness/hystrix-Like Ichthyosis-Deafness Syndrome 49 55
Kid/hid Syndrome 49 55
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 49
Keratitis, Ichthyosis, and Deafness Syndrome 49
Keratitis-Ichthyosis-Deafness Syndrome 69
Kid Syndrome, Autosomal Dominant 49

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 12/12/2016

MalaCards based summary : Kid Syndrome, also known as senter syndrome, is related to keratitis, hereditary and corneal disease, and has symptoms including cryptorchidism, furrowed tongue and sensorineural hearing impairment. 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 phenotype is no phenotypic analysis.

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 keratitis, hereditary 30.3 GJB2 GJB6
2 corneal disease 29.2 GJB2 GJB6
3 sensorineural hearing loss 28.8 GJB2 GJB3 GJB6
4 keratitis-ichthyosis-deafness syndrome, autosomal dominant 11.7
5 ichthyosiform erythroderma, corneal involvement, and deafness 11.1
6 ichthyosis follicularis atrichia photophobia syndrome 10.9
7 ichthyosis hystrix, curth-macklin type 10.9
8 ichthyosis, hystrix-like, with deafness 10.9
9 branchiootic syndrome 1 10.5
10 ichthyosis 10.5
11 deafness, autosomal recessive 93 10.0 GJB2 GJB3
12 deafness, autosomal recessive 28 10.0 GJB2 GJB3
13 deafness, autosomal recessive 1b 10.0 GJB2 GJB6
14 candidiasis 10.0
15 deafness, autosomal dominant 24 10.0 GJB2 GJB6
16 deafness, x-linked 2 10.0 GJB2 GJB6
17 congenital cytomegalovirus 9.9 GJB2 GJB6
18 dfnb1 9.9 GJB2 GJB6
19 deafness, autosomal recessive 67 9.9 GJB2 GJB3
20 vohwinkel syndrome 9.9 GJB2 GJB6
21 non-syndromic genetic deafness 9.9 GJB2 GJB6
22 deafness, autosomal recessive 16 9.9 GJB2 GJB6
23 palmoplantar keratosis 9.9 GJB2 GJB3
24 deafness, autosomal dominant 2a 9.8 GJB2 GJB6
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
26 cutaneous candidiasis 9.8
27 keratosis 9.8
28 squamous cell carcinoma 9.8
29 oculodentodigital dysplasia 9.7 GJB2 GJB4
30 deafness, autosomal recessive 1a 9.6 GJB2 GJB3 GJB6
31 hodgkin's lymphoma, nodular sclerosis 9.6 GJB2 GJB3 GJB6
32 vestibular disease 9.6 GJB2 GJB3 GJB6
33 ectodermal dysplasia 9.6
34 hepatitis 9.6
35 corneal neovascularization 9.6
36 acroosteolysis 9.6
37 ventricular septal defect 9.6
38 cerebellar hypoplasia 9.6
39 chronic mucocutaneous candidiasis 9.6
40 lactic acidosis 9.6
41 arthropathy 9.6
42 trichilemmal cyst 1 9.6
43 dermatophytosis 9.6
44 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 GJB2 GJB3 GJB6
45 deafness, autosomal recessive 12 9.6 GJB2 GJB3 GJB6
46 inner ear disease 9.6 GJB2 GJB3 GJB6
47 auditory system disease 9.6 GJB2 GJB3 GJB6
48 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 GJB3 GJB6
49 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 GJB3 GJB6
50 deafness, autosomal recessive 9.6 GJB2 GJB3

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:

55 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
2 furrowed tongue 55 31 frequent (33%) Frequent (79-30%) HP:0000221
3 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 keratitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000491
5 abnormality of the eyelashes 55 31 hallmark (90%) Very frequent (99-80%) HP:0000499
6 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
7 progressive visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000529
8 photophobia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000613
9 carious teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000670
10 delayed eruption of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000684
11 hypohidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000966
12 palmoplantar keratoderma 55 31 frequent (33%) Frequent (79-30%) HP:0000982
13 urticaria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001025
14 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
15 reduced tendon reflexes 55 31 occasional (7.5%) Occasional (29-5%) HP:0001315
16 cerebellar hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001321
17 arthritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001369
18 alopecia 55 31 frequent (33%) Frequent (79-30%) HP:0001596
19 hypoplastic toenails 55 31 frequent (33%) Frequent (79-30%) HP:0001800
20 hypoplastic fingernail 55 31 frequent (33%) Frequent (79-30%) HP:0001804
21 dystrophic toenail 55 31 frequent (33%) Frequent (79-30%) HP:0001810
22 fine hair 55 31 frequent (33%) Frequent (79-30%) HP:0002213
23 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
24 oral leukoplakia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002745
25 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
26 osteolysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002797
27 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
28 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
29 recurrent bacterial skin infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0005406
30 generalized hyperkeratosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005595
31 squamous cell carcinoma of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0006739
32 ichthyosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008064
33 sparse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0008070
34 dystrophic fingernails 55 31 frequent (33%) Frequent (79-30%) HP:0008391
35 erythema 55 31 hallmark (90%) Very frequent (99-80%) HP:0010783
36 severe global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0011344
37 corneal neovascularization 55 31 hallmark (90%) Very frequent (99-80%) HP:0011496
38 macule 55 31 hallmark (90%) Very frequent (99-80%) HP:0012733
39 aplasia/hypoplasia of the eyebrow 55 31 hallmark (90%) Very frequent (99-80%) HP:0100840
40 corneal erosion 55 31 occasional (7.5%) Occasional (29-5%) HP:0200020
41 skin ulcer 55 31 hallmark (90%) Very frequent (99-80%) HP:0200042
42 abnormality of the tongue 55 Frequent (79-30%)
43 abnormality of the dentition 55 Occasional (29-5%)
44 hearing impairment 55 Occasional (29-5%)
45 thickened skin 55 Occasional (29-5%)
46 neoplasm 55 Occasional (29-5%)

UMLS symptoms related to Kid Syndrome:


photophobia

MGI Mouse Phenotypes related to Kid Syndrome:

43
# 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:

38
Skin, Eye, Tongue

Publications for Kid Syndrome

Articles related to Kid Syndrome:

(show top 50) (show all 80)
# Title Authors Year
1
Infectious keratitis in a patient with kid syndrome. ( 28461083 )
2017
2
Visual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome. ( 29159249 )
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
Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F. ( 26070424 )
2015
6
Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature. ( 25546246 )
2015
7
Diminution of Langerhans cells in keratitis, ichthyosis and deafness (KID) syndrome patient with recalcitrant cutaneous candidiasis. ( 26333049 )
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
Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome. ( 21777204 )
2012
13
Diffuse hyperkeratosis in a deaf and blind 48-year-old woman--quiz case. Diagnosis: keratitis-ichthyosis-deafness (KID) syndrome with secondary dermatophytosis. ( 23069961 )
2012
14
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
15
Porokeratotic eccrine duct and hair follicle nevus (PEHFN) associated with keratitis-ichthyosis-deafness (KID) syndrome. ( 21182641 )
2010
16
Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome. ( 19590522 )
2010
17
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. ( 20230788 )
2010
18
Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography). ( 22470741 )
2010
19
Severe form of keratitis-ichthyosis-deafness (KID) syndrome associated with septic complications. ( 20629838 )
2010
20
Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. ( 20307501 )
2010
21
Keratitis, ichthyosis, and deafness (KID) syndrome associated with ventricular septal defect. ( 20465629 )
2010
22
A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. ( 19785089 )
2009
23
Keratitis-ichthyosis-deafness (KID) syndrome. ( 19891919 )
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
KID syndrome patient with toe walking: a case report. ( 19466627 )
2009
26
Cochlear implantation in children with keratitis-ichthyosis-deafness (KID) syndrome: outcomes in three cases. ( 19023871 )
2009
27
Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. ( 18313767 )
2008
28
Long-term use of fluconazole for verrucous plaques of cutaneous candidiasis in KID syndrome. ( 18573732 )
2008
29
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. ( 18024254 )
2008
30
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? ( 18950394 )
2008
31
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. ( 18412859 )
2008
32
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. ( 17330861 )
2007
33
A case of keratitis-ichthyosis-deafness (KID) syndrome. ( 17442083 )
2007
34
KID syndrome. ( 18319008 )
2007
35
Surgical therapy in a patient with Keratosis-Ichthyosis-Deafness (KID) syndrome associated with follicular occlusion triad. ( 17673397 )
2007
36
Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. ( 17442084 )
2007
37
A case of keratitis ichthyosis deafness (KID) syndrome associated with Dandy-Walker. ( 17448003 )
2007
38
Floppy kid syndrome caused by D-lactic acidosis in goat kids. ( 16955830 )
2006
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
KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. ( 15823911 )
2005
43
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. ( 15691545 )
2005
44
Additional aspects of keratitis, ichthyosis, and deafness (KID) syndrome. ( 15283813 )
2004
45
Two patients with severe corneal disease in KID syndrome. ( 14700667 )
2004
46
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. ( 15140211 )
2004
47
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. ( 12548749 )
2003
48
Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. ( 12047643 )
2002
49
Keratitis, ichthyosis, and deafness (KID) syndrome. ( 12437553 )
2002
50
HID and KID syndromes are associated with the same connexin 26 mutation. ( 12072059 )
2002

Variations for Kid Syndrome

ClinVar genetic disease variations for Kid Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
2 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
3 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
4 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
5 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
6 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
7 GJB2 NM_004004.5(GJB2): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs104894408 GRCh37 Chromosome 13, 20763687: 20763687
8 GJB2 NM_004004.5(GJB2): c.50C> T (p.Ser17Phe) single nucleotide variant Pathogenic rs28929485 GRCh37 Chromosome 13, 20763671: 20763671
9 GJB2 NM_004004.5(GJB2): c.148G> T (p.Asp50Tyr) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
10 GJB2 NM_004004.5(GJB2): c.134G> A (p.Gly45Glu) single nucleotide variant Pathogenic/Likely pathogenic rs72561723 GRCh37 Chromosome 13, 20763587: 20763587
11 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
12 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
13 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
14 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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