MCID: KDS001
MIFTS: 53

Kid Syndrome malady

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

Aliases & Classifications for Kid Syndrome

Aliases & Descriptions for Kid Syndrome:

Name: Kid Syndrome 50 56
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 50 24 29
Senter Syndrome 50 56 69
Keratitis-Ichthyosis-Deafness/hystrix-Like Ichthyosis-Deafness Syndrome 50 56
Kid Syndrome, Autosomal Dominant 50 24
Kid/hid Syndrome 50 56
Keratitis, Ichthyosis, and Deafness Syndrome 50
Keratitis-Ichthyosis-Deafness Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
kid syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: any age;

Classifications:



External Ids:

Orphanet 56 ORPHA477
ICD10 via Orphanet 34 Q80.8

Summaries for Kid Syndrome

NIH Rare Diseases : 50 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 keratitis-ichthyosis-deafness syndrome, autosomal dominant, is related to keratitis-ichthyosis-deafness syndrome and hystrix-like ichthyosis with deafness, and has symptoms including photophobia, macule and intellectual disability. 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 Myometrial Relaxation and Contraction Pathways. The drugs Ethanol and Heparin have been mentioned in the context of this disorder. 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 55)
id Related Disease Score Top Affiliating Genes
1 keratitis-ichthyosis-deafness syndrome 11.6
2 hystrix-like ichthyosis with deafness 10.8
3 ichthyosiform erythroderma, corneal involvement, deafness 10.8
4 keratitis 10.4
5 ichthyosis 10.4
6 dnase1-related susceptibility to systemic lupus erythematosus 10.0 GJB2 GJB6
7 down syndrome-related congenital heart disease 10.0 GJB2 GJB6
8 spastic ataxia, charlevoix-saguenay type 10.0 GJB2 GJB6
9 pik3ca-related segmental overgrowth 10.0 GJB2 GJB6
10 bietti crystalline corneoretinal dystrophy 10.0 GJB2 GJB6
11 ectodermal dysplasia 2, clouston type 10.0 GJB2 GJB6
12 leprosy 4 10.0 GJB2 GJB3
13 congenital herpes simplex 10.0 GJB2 GJB6
14 bartter syndrome, type 1 10.0 GJB2 GJB6
15 carotid artery thrombosis 10.0 GJB2 GJB3
16 mesenchymal chondrosarcoma 10.0 GJB2 GJB3
17 deafness, autosomal dominant 2a 9.9 GJB2 GJB6
18 candidiasis 9.9
19 hypoplastic left heart syndrome 1 9.9 GJB2 GJB4
20 autoimmune gastrointestinal dysmotility 9.9 GJB2 GJB6
21 pink1 type of young-onset parkinson disease 9.9 GJB2 GJB3 GJB6
22 keratoderma, palmoplantar, with deafness 9.9 GJB2 GJB3 GJB6
23 molluscum contagiosum 9.9 GJB2 GJB3 GJB6
24 die smulders droog van dijk syndrome 9.9 GJB2 GJB3 GJB6
25 erythrocytosis due to bisphosphoglycerate mutase deficiency 9.8 GJB2 GJB3 GJB6
26 cockayne syndrome 9.8 GJB2 GJB3 GJB6
27 narcissistic personality disorder 9.8 GJB2 GJB3 GJB6
28 obesity susceptibility, adrb3-related 9.8 GJB2 GJB3 GJB6
29 telangiectasia macularis eruptiva perstans 9.8 GJB2 GJB3 GJB6
30 duodenum cancer 9.8 GJB2 GJB3 GJB6
31 mitochondrial non-syndromic sensorineural deafness 9.8 GJB2 GJB3 GJB6
32 x-linked nonsyndromic deafness 9.8 GJB2 GJB3 GJB6
33 venous insufficiency 9.8 GJB2 GJB6
34 hereditary thrombocytosis with transverse limb defect 9.8 GJB2 GJB3 GJB4
35 ehlers-danlos syndrome, type viib 9.8 GJB2 GJB3 GJB4
36 troyer syndrome 9.7 GJB2 GJB4 GJB6
37 cutaneous candidiasis 9.7
38 corneal disease 9.7
39 keratosis 9.7
40 squamous cell carcinoma 9.7
41 chronic mucocutaneous candidiasis 9.6
42 lactic acidosis 9.6
43 arthropathy 9.6
44 dermatophytosis 9.6
45 cerebellar hypoplasia 9.6
46 ectodermal dysplasia 9.6
47 hepatitis 9.6
48 sensorineural hearing loss 9.6
49 corneal neovascularization 9.6
50 ventricular septal defect 9.6

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:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Very frequent (99-80%) HP:0000613
2 macule 56 32 Very frequent (99-80%) HP:0012733
3 intellectual disability 56 32 Occasional (29-5%) HP:0001249
4 arthritis 56 32 Occasional (29-5%) HP:0001369
5 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
6 carious teeth 56 32 Occasional (29-5%) HP:0000670
7 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
8 visual impairment 56 32 Very frequent (99-80%) HP:0000505
9 short stature 56 32 Occasional (29-5%) HP:0004322
10 ichthyosis 56 32 Very frequent (99-80%) HP:0008064
11 generalized hyperkeratosis 56 32 Very frequent (99-80%) HP:0005595
12 palmoplantar keratoderma 56 32 Frequent (79-30%) HP:0000982
13 hemiplegia/hemiparesis 56 32 Occasional (29-5%) HP:0004374
14 delayed eruption of teeth 56 32 Occasional (29-5%) HP:0000684
15 severe global developmental delay 56 32 Occasional (29-5%) HP:0011344
16 corneal erosion 56 32 Occasional (29-5%) HP:0200020
17 progressive visual loss 56 32 Occasional (29-5%) HP:0000529
18 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
19 hypohidrosis 56 32 Frequent (79-30%) HP:0000966
20 hypoplastic toenails 56 32 Frequent (79-30%) HP:0001800
21 skin ulcer 56 32 Very frequent (99-80%) HP:0200042
22 reduced tendon reflexes 56 32 Occasional (29-5%) HP:0001315
23 abnormality of the eyelashes 56 32 Very frequent (99-80%) HP:0000499
24 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
25 cerebellar hypoplasia 56 32 Occasional (29-5%) HP:0001321
26 keratitis 56 32 Very frequent (99-80%) HP:0000491
27 corneal neovascularization 56 32 Very frequent (99-80%) HP:0011496
28 fine hair 56 32 Frequent (79-30%) HP:0002213
29 erythema 56 32 Very frequent (99-80%) HP:0010783
30 alopecia 56 32 Frequent (79-30%) HP:0001596
31 urticaria 56 32 Occasional (29-5%) HP:0001025
32 osteolysis 56 32 Very frequent (99-80%) HP:0002797
33 aplasia/hypoplasia of the eyebrow 56 32 Very frequent (99-80%) HP:0100840
34 furrowed tongue 56 32 Frequent (79-30%) HP:0000221
35 hypoplastic fingernail 56 32 Frequent (79-30%) HP:0001804
36 sparse hair 56 32 Very frequent (99-80%) HP:0008070
37 dystrophic toenail 56 32 Frequent (79-30%) HP:0001810
38 dystrophic fingernails 56 32 Frequent (79-30%) HP:0008391
39 oral leukoplakia 56 32 Very frequent (99-80%) HP:0002745
40 recurrent bacterial skin infections 56 32 Very frequent (99-80%) HP:0005406
41 squamous cell carcinoma of the skin 56 32 Occasional (29-5%) HP:0006739
42 hearing impairment 56 Occasional (29-5%)
43 abnormality of the teeth 56 Occasional (29-5%)
44 neoplasm 56 Occasional (29-5%)
45 thickened skin 56 Occasional (29-5%)
46 abnormality of the tongue 56 Frequent (79-30%)

UMLS symptoms related to Kid Syndrome:


photophobia

MGI Mouse Phenotypes related to Kid Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.8 GJB2 GJB3 GJB6

Drugs & Therapeutics for Kid Syndrome

Drugs for Kid Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1281)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 64-17-5 702
2
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 9005-49-6 772 46507594
3
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-61-6, 62-31-7 681
4
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
5
Nitric Oxide Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 10102-43-9 145068
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
7
Phenytoin Approved, Vet_approved Phase 4,Phase 2,Phase 1 57-41-0 1775
8
Simvastatin Approved Phase 4,Phase 3,Phase 2 79902-63-9 54454
9
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
10
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
11
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
12
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 50-78-2 2244
13
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
14
Ritonavir Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 155213-67-5 392622
15
Idarubicin Approved Phase 4,Phase 3,Phase 2,Phase 1 58957-92-9 42890
16
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253
17
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
18
Lopinavir Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 192725-17-0 92727
19
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 154598-52-4 64139
20
Nevirapine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 129618-40-2 4463
21
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
22
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2 59467-70-8 4192
23
Ursodeoxycholic acid Approved, Investigational Phase 4,Phase 2 128-13-2 31401
24
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
25
Montelukast Approved Phase 4,Phase 3,Phase 2 158966-92-8 5281040
26
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 30516-87-1 35370
27
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
28
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
29
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
30
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 134678-17-4 60825
31
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1 15687-27-1 3672
32
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
33
Fludarabine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 21679-14-1, 75607-67-9 30751
34
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 99-66-1 3121
35
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
36
Ramipril Approved Phase 4,Phase 3 87333-19-5 5362129
37
Spironolactone Approved Phase 4,Phase 2,Phase 1 1952-01-7, 52-01-7 5833
38
Valsartan Approved, Investigational Phase 4,Phase 2,Phase 1 137862-53-4 60846
39
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
40 Moxonidine Approved Phase 4 75438-57-2 4810
41
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
42
Rocuronium Approved Phase 4,Phase 2,Phase 3 119302-91-9, 143558-00-3 441290
43
Azathioprine Approved Phase 4,Phase 2,Phase 3,Phase 1 446-86-6 2265
44
Vidarabine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 24356-66-9 32326 21704
45
Busulfan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 55-98-1 2478
46
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
47
Allopurinol Approved Phase 4,Phase 3,Phase 2,Phase 1 315-30-0 2094
48
Propranolol Approved, Investigational Phase 4,Phase 3,Phase 2 525-66-6 4946
49
rituximab Approved Phase 4,Phase 2,Phase 3,Phase 1 174722-31-7 10201696
50
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-23-7 5754 657311

Interventional clinical trials:

(show top 50) (show all 5000)
id Name Status NCT ID Phase
1 Study of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
2 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4
3 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4
4 Nasal Budesonide in Children With Rhinitis and/or Mild Obstructive Sleep Apnea Syndrome Unknown status NCT00560586 Phase 4
5 Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome Unknown status NCT01895894 Phase 4
6 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4
7 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4
8 Propofol Versus Midazolam as Premedication for Preterm Neonates With Respiratory Distress Syndrome (RDS) Unknown status NCT00797160 Phase 4
9 Efficacy Evaluation of Surfactant Administration Via Laryngeal Mask Airway Unknown status NCT01173237 Phase 4
10 Early CPAP in Respiratory Distress Syndrome Unknown status NCT00368680 Phase 4
11 Event-related Potentials in Management of Children With Attention-deficit/Hyperactivity Disorder Unknown status NCT01130467 Phase 4
12 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4
13 NAS Treatment - Opiate Versus Non-Opiate Unknown status NCT01734551 Phase 4
14 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
15 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4
16 CHUSPAN SCS BP Treatment of Churg–Strauss Syndrome Without Poor-Prognosis Factors Unknown status NCT00399399 Phase 4
17 Efficacy Study of Pentosan Polysulfate Sodium,Hydrodistension and Combination Therapy for Bladder Pain Syndrome Unknown status NCT01895153 Phase 4
18 Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4
19 Rajavithi Health Promotion Project (Population Base Cohort) Unknown status NCT00368095 Phase 4
20 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4
21 Prevention of Chronic Lung Disease (CLD) in Preterm Infants Unknown status NCT00883532 Phase 4
22 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
23 Surfactant Administration During Spontaneous Breathing Unknown status NCT01329432 Phase 4
24 Brain Oxygenation and Function of Preterm Newborns During Administration of Two Different Surfactant Preparations Unknown status NCT01941524 Phase 4
25 Metformin for Weight Control in Adolescents Taking Atypical Antipsychotics Unknown status NCT00845936 Phase 4
26 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4
27 Sublingual Misoprostol for Induction of Labor Unknown status NCT01406392 Phase 4
28 Evaluation of the Effects of Laying Early a Gastric Band on the Prevention of Morbid Obesity Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
29 Renal Effects of Levosimendan in Patients Admitted With Acute Decompensated Heart Failure Unknown status NCT00527059 Phase 4
30 Statin and Angiotensin-converting Enzyme Inhibitor on Symptoms in Patients With SCAD Unknown status NCT02008786 Phase 4
31 Neurally Adjusted Ventilatory Assist (NAVA) vs. Pressure Support in Pediatric Acute Respiratory Failure Unknown status NCT01873521 Phase 4
32 Study of the Effect of Moxonidine and Diet on Sympathetic Functions in Young Adults With Obesity Unknown status NCT01180231 Phase 4
33 An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4
34 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4
35 Self-control Trial to Evaluate the Role of Aprepitant in the Prophylaxis of Post-lumbar-punture-headache (PLPH) Unknown status NCT02347878 Phase 4
36 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
37 Delayed Vasospasm After Aneurysm With the Standardization Treatment of Traditional Chinese Medicine Unknown status NCT01840761 Phase 4
38 Safety and Efficacy of Gardasil in Females With Juvenile Idiopathic Arthritis (JIA)/Seronegative Arthritis Unknown status NCT00573651 Phase 4
39 The Efficacy of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease Unknown status NCT01306955 Phase 4
40 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4
41 Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122 Phase 4
42 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4
43 Efficacy of Oral Leukotriene in Long Term Therapy of Mild and Moderate Obstructive Sleep Apnea Syndrome in Children Completed NCT00912171 Phase 4
44 Levothyroxine for Children With Euthyroid Sick Syndrome Completed NCT01631305 Phase 4
45 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
46 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4
47 Topical Brinzolamide Ophthalmic Suspension Versus Placebo in the Treatment of Infantile Nystagmus Syndrome Completed NCT01312402 Phase 4
48 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
49 Rasburicase for Treatment of Hyperuricemia in Children and Adolescence Patients With Tumor Lysis Syndrome Completed NCT00563771 Phase 4
50 Bifidobacteria In Children With Abdominal Pain-Associated Functional Gastrointestinal Disorders Completed NCT02566876 Phase 4

Search NIH Clinical Center for Kid Syndrome

Genetic Tests for Kid Syndrome

Genetic tests related to Kid Syndrome:

id Genetic test Affiliating Genes
1 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 29 24 GJB2

Anatomical Context for Kid Syndrome

MalaCards organs/tissues related to Kid Syndrome:

39
Skin, Eye, Tongue

Publications for Kid Syndrome

Articles related to Kid Syndrome:

(show top 50) (show all 79)
id Title Authors Year
1
Infectious keratitis in a patient with kid syndrome. ( 28461083 )
2017
2
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. ( 27141831 )
2016
3
Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations. ( 26831144 )
2016
4
Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature. ( 25546246 )
2015
5
Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F. ( 26070424 )
2015
6
Diminution of Langerhans cells in keratitis, ichthyosis and deafness (KID) syndrome patient with recalcitrant cutaneous candidiasis. ( 26333049 )
2015
7
Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2. ( 25422938 )
2014
8
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. ( 23924173 )
2013
9
Quantitative analysis of fecal flora in goat kids with and without floppy kid syndrome. ( 23952589 )
2013
10
Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome. ( 21777204 )
2012
11
Diffuse hyperkeratosis in a deaf and blind 48-year-old woman--quiz case. Diagnosis: keratitis-ichthyosis-deafness (KID) syndrome with secondary dermatophytosis. ( 23069961 )
2012
12
KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions. ( 21848689 )
2012
13
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
14
Keratitis, ichthyosis, and deafness (KID) syndrome associated with ventricular septal defect. ( 20465629 )
2010
15
Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. ( 20307501 )
2010
16
Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography). ( 22470741 )
2010
17
Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome. ( 19590522 )
2010
18
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. ( 20230788 )
2010
19
Porokeratotic eccrine duct and hair follicle nevus (PEHFN) associated with keratitis-ichthyosis-deafness (KID) syndrome. ( 21182641 )
2010
20
Severe form of keratitis-ichthyosis-deafness (KID) syndrome associated with septic complications. ( 20629838 )
2010
21
Keratitis-ichthyosis-deafness (KID) syndrome. ( 19891919 )
2009
22
A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. ( 19785089 )
2009
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
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. ( 18412859 )
2008
27
Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. ( 18313767 )
2008
28
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? ( 18950394 )
2008
29
Long-term use of fluconazole for verrucous plaques of cutaneous candidiasis in KID syndrome. ( 18573732 )
2008
30
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. ( 18024254 )
2008
31
Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. ( 17442084 )
2007
32
KID syndrome. ( 18319008 )
2007
33
A case of keratitis ichthyosis deafness (KID) syndrome associated with Dandy-Walker. ( 17448003 )
2007
34
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. ( 17330861 )
2007
35
Surgical therapy in a patient with Keratosis-Ichthyosis-Deafness (KID) syndrome associated with follicular occlusion triad. ( 17673397 )
2007
36
A case of keratitis-ichthyosis-deafness (KID) syndrome. ( 17442083 )
2007
37
Floppy kid syndrome caused by D-lactic acidosis in goat kids. ( 16955830 )
2006
38
What syndrome is this? KID syndrome (keratitis, ichthyosis, deafness). ( 16445421 )
2006
39
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
40
Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. ( 16679758 )
2006
41
KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. ( 15823911 )
2005
42
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. ( 15691545 )
2005
43
Additional aspects of keratitis, ichthyosis, and deafness (KID) syndrome. ( 15283813 )
2004
44
Two patients with severe corneal disease in KID syndrome. ( 14700667 )
2004
45
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. ( 15140211 )
2004
46
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. ( 12548749 )
2003
47
Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome. ( 11889383 )
2002
48
KID syndrome: response to acitretin. ( 12227483 )
2002
49
Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. ( 12047643 )
2002
50
Keratitis, ichthyosis, and deafness (KID) syndrome. ( 12437553 )
2002

Variations for Kid Syndrome

ClinVar genetic disease variations for Kid 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 Kid Syndrome

Search GEO for disease gene expression data for Kid Syndrome.

Pathways for Kid Syndrome

Pathways related to Kid Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 GJB2 GJB3 GJB4 GJB6
2
Show member pathways
11.95 GJB2 GJB3 GJB4 GJB6
3
Show member pathways
11.65 GJB2 GJB3 GJB4 GJB6
4
Show member pathways
10.92 GJB2 GJB3 GJB4 GJB6

GO Terms for Kid Syndrome

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

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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